UCL logo

UCL Discovery

UCL home » Library Services » Electronic resources » UCL Discovery

Browse by UCL people

Export as [feed] RSS 2.0 [feed] RSS 1.0 [feed] Atom
Group by: Type | Date
Number of items: 930.

Article

Aartsma-Rus, A; (2011) The risks of therapeutic misconception and individual patient (n=1) "trials" in rare diseases such as Duchenne dystrophy. Neuromuscul Disord , 21 (1) 13 - 15. 10.1016/j.nmd.2010.09.012.

Aartsma-Rus, A; Muntoni, F; (2013) 194th ENMC international workshop. 3rd ENMC workshop on exon skipping: Towards clinical application of antisense-mediated exon skipping for Duchenne muscular dystrophy 8-10 December 2012, Naarden, The Netherlands. Neuromuscul Disord 10.1016/j.nmd.2013.06.369.

Abbs, S; Smith, T; MacLeod, M; Bobrow, M; Mathew, C; Muntoni, F; Yau, SC; (2000) Dystrophin duplications: distribution, clinical significance, and somatic mosaicism. AM J HUM GENET , 67 (4) 249 - 249.

Ackroyd, MR; Skordis, L; Kaluarachchi, M; Godwin, J; Prior, S; Fidanboylu, M; ... Brown, SC; + view all (2009) Reduced expression of fukutin related protein in mice results in a model for fukutin related protein associated muscular dystrophies. BRAIN , 132 439 - 451. 10.1093/brain/awn335.

Ackroyd, MR; Whitmore, C; Prior, S; Kaluarachchi, M; Nikolic, M; Mayer, U; ... Brown, SC; + view all (2011) Fukutin-Related Protein Alters the Deposition of Laminin in the Eye and Brain. J NEUROSCI , 31 (36) 12927 - 12935. 10.1523/JNEUROSCI.2301-11.2011.

Adkin, CF; Meloni, PL; Fletcher, S; Adams, AM; Muntoni, F; Wong, B; Wilton, SD; (2012) Multiple exon skipping strategies to by-pass dystrophin mutations. Neuromuscular Disorders , 22 (4) 297 - 305. 10.1016/j.nmd.2011.10.007. Green and gold open access
file

Afifi, A; Olpin, SE; Dalton, A; Leonard, JV; Land, J; Muntoni, F; Lee, PJ; (2001) Mutation and biochemical analysis in carnitine palmitoyl transferase type II (CPTII) deficiency suggests complex genotype/phenotype interactions. J MED GENET , 38 S69 - S69.

Ambegaonkar, G; Manzur, AY; Robb, SA; Kinali, M; Muntoni, F; (2011) The multiple phenotypes of Arthrogryposis multiplex congenita with reference to the neurogenic variant. EUR J PAEDIATR NEURO , 15 (4) 316 - 319. 10.1016/j.ejpn.2011.01.007.

Amthor, H; Macharia, R; Navarrete, R; Schuelke, M; Brown, SC; Otto, A; ... Patel, K; + view all (2007) Lack of myostatin results in excessive muscle growth but impaired force generation (vol 104, pg 1835, 2007). P NATL ACAD SCI USA , 104 (10) 4240 - 4240. 10.1073/pnas.0701154104.

Amthor, H; Macharia, R; Navarrete, R; Schuelke, M; Brown, SC; Otto, A; ... Patel, K; + view all (2007) Lack of myostatin results in excessive muscle growth but impaired force generation. P NATL ACAD SCI USA , 104 (6) 1835 - 1840. 10.1073/pnas.0604893104.

Anthony, K; Arechavala-Gomeza, V; Ricotti, V; Torelli, S; Feng, L; Janghra, N; ... Muntoni, F; + view all (2013) Biochemical Characterization of Patients With In-Frame or Out-of-Frame DMD Deletions Pertinent to Exon 44 or 45 Skipping. JAMA Neurol 10.1001/jamaneurol.2013.4908.

Anthony, K; Arechavala-Gomeza, V; Taylor, LE; Vulin, A; Kaminoh, Y; Torelli, S; ... Muntoni, F; + view all (2014) Dystrophin quantification: Biological and translational research implications. Neurology 10.1212/WNL.0000000000001025.

Anthony, K; Cirak, S; Torelli, S; Tasca, G; Feng, L; Arechavala-Gomeza, V; ... Muntoni, F; + view all (2011) Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trials. Brain , 134 (Pt 12) 3547 - 3559. 10.1093/brain/awr291.

Anthony, K; Feng, L; Arechavala-Gomeza, V; Guglieri, M; Straub, V; Bushby, K; ... Muntoni, F; + view all (2012) Exon skipping quantification by quantitative reverse-transcription polymerase chain reaction in Duchenne muscular dystrophy patients treated with the antisense oligomer eteplirsen. Hum Gene Ther Methods , 23 (5) 336 - 345. 10.1089/hgtb.2012.117.

ANTONIETTA, M; CAU, MM; CONGIU, R; PUDDU, R; MUNTONI, F; CAO, A; (1993) GERMINAL MOSAICISM IN A DUCHENNE MUSCULAR-DYSTROPHY FAMILY - IMPLICATIONS FOR GENETIC-COUNSELING. CLIN GENET , 43 (5) 247 - 249.

Arbogast, S; Beuvin, M; Fraysse, B; Zhou, H; Muntoni, F; Ferreiro, A; (2009) Oxidative Stress in SEPN1-Related Myopathy: From Pathophysiology to Treatment. ANN NEUROL , 65 (6) 677 - 686. 10.1002/ana.21644.

Arechavala-Gomeza, V; Anthony, K; Morgan, J; Muntoni, F; (2012) Antisense Oligonucleotide-Mediated Exon Skipping for Duchenne Muscular Dystrophy: Progress and Challenges. Current Gene Therapy , 12 (3) pp. 152-160. 10.2174/156652312800840621. Green open access
file

Arechavala-Gomeza, V; Cirak, S; Anthony, K; Morgan, J; Muntoni, F; (2012) Exon-skipping therapy for Duchenne muscular dystrophy - Authors' reply. Lancet , 379 (9811) e10 - e11. 10.1016/S0140-6736(12)60064-6.

Arechavala-Gomeza, V; Feng, L; Morgan, JE; Muntoni, F; (2012) Correspondence: Measuring dystrophin-faster is not necessarily better. [Letter]. Nature Reviews Neurology , 8 (8) 469 -470. 10.1038/nrneurol.2012.15-c1. Green open access
file

Arechavala-Gomeza, V; Graham, IR; Popplewell, LJ; Adams, AM; Aartsma-Rus, A; Kinali, M; ... Muntoni, F; + view all (2007) Comparative analysis of antisense oligonucleotide sequences for targeted skipping of Exon 51 during dystrophin Pre-mRNA splicing in human muscle. Human Gene Therapy , 18 (9) 798 - 810. 10.1089/hum.2006.061. Green open access
file

Arechavala-Gomeza, V; Kinali, M; Feng, L; Brown, SC; Sewry, C; Morgan, JE; Muntoni, F; (2010) Immunohistological intensity measurements as a tool to assess sarcolemma-associated protein expression. NEUROPATH APPL NEURO , 36 (4) 265 - 274. 10.1111/j.1365-2990.2009.01056.x. Green open access
file

Arechavala-Gomeza, V; Kinali, M; Feng, L; Guglieri, M; Edge, G; Main, M; ... Muntoni, F; + view all (2010) Revertant fibres and dystrophin traces in Duchenne muscular dystrophy: Implication for clinical trials. Neuromuscular Disorders , 20 (5) 295 - 301. 10.1016/j.nmd.2010.03.007. Green open access
file

Astrea, G; Schessl, J; Clement, E; Tosetti, M; Mercuri, E; Rutherford, M; ... Battini, R; + view all (2009) Muscle MRI in FHL1-linked reducing body myopathy. NEUROMUSCULAR DISORD , 19 (10) 689 - 691. 10.1016/j.nmd.2009.06.372.

Auranen, M; Villanova, M; Muntoni, F; Fardeau, M; Scherer, SW; Kalino, H; Minassian, BA; (2000) X-linked vacuolar myopathies: Two separate loci and refined genetic mapping. ANN NEUROL , 47 (5) 666 - 669.

Ayoglu, B; Chaouch, A; Lochmüller, H; Politano, L; Bertini, E; Spitali, P; ... Al-Khalili Szigyarto, C; + view all (2014) Affinity proteomics within rare diseases: a BIO-NMD study for blood biomarkers of muscular dystrophies. EMBO Mol Med 10.15252/emmm.201303724.

Babcock, MA; Kostova, FV; Moxley, RT; Chamberlain, JS; Maria, BL; Muntoni, F; ... Mendell, JR; + view all (2010) Muscular Dystrophy: New Opportunities for Diagnosis and Treatment. J CHILD NEUROL , 25 (9) 1080 - 1097. 10.1177/0883073810371000.

Banks, LM; Jayawant, S; Manzur, AY; Higgins, R; Dubowitz, V; Muntoni, F; (2000) Effect of low dose steroids on bone mineral density in children with muscular dystrophy. OSTEOPOROSIS INT , 11 S52 - S52.

Banks, LM; Jaywant, S; Higgins, RN; Manzur, AY; Dubowitz, V; Muntoni, F; (2000) Duchenne muscular dystrophy: The effect of low dose intermittent steroids and the disease on bone mineral density levels. OSTEOPOROSIS INT , 11 22 - 22.

Bastianutto, C; Bestard, JA; Broere, D; de Visser, M; Ferlini, A; Muntoni, F; ... Klamut, HJ; + view all (2001) Dystrophin muscle enhancer 1 is implicated in the activation of nonmuscle isoforms in the skeletal muscle of patients with X-linked dilated cardiomyopathy. NEUROMUSCULAR DISORD , 11 (6-7) 640 - 640.

Bastianutto, C; Bestard, JA; Lahnakoski, K; Broere, D; De Visser, M; Zaccolo, M; ... Patarnello, T; + view all (2001) Dystrophin muscle enhancer 1 is implicated in the activation of non-muscle isoforms in the skeletal muscle of patients with X-linked dilated cardiomyopathy. HUM MOL GENET , 10 (23) 2627 - 2635.

Bastianutto, C; De Visser, M; Muntoni, F; Klamut, HJ; Patarnello, T; (2002) A novel muscle-specific enhancer identified within the deletion overlap region of two XLDC patients lacking muscle exon 1 of the human dystrophin gene. GENOMICS , 80 (6) 614 - 620. 10.1006/geno.2002.7015.

Baumann, M; Giunta, C; Krabichler, B; Rüschendorf, F; Zoppi, N; Colombi, M; ... Fauth, C; + view all (2012) Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss. Am J Hum Genet , 90 (2) 201 - 216. 10.1016/j.ajhg.2011.12.004.

Bönnemann, CG; Rutkowski, A; Mercuri, E; Muntoni, F; CMD Outcomes Consortium,; (2011) 173rd ENMC International Workshop: congenital muscular dystrophy outcome measures 5-7 March 2010, Naarden, The Netherlands. Neuromuscul Disord , 21 (7) 513 - 522. 10.1016/j.nmd.2011.04.004.

Bönnemann, CG; Wang, CH; Quijano-Roy, S; Deconinck, N; Bertini, E; Ferreiro, A; ... Members of the International Standard of Care Committee for Congenital Muscular Dystrophies,; + view all (2014) Diagnostic approach to the congenital muscular dystrophies. Neuromuscul Disord 10.1016/j.nmd.2013.12.011.

Beckmann, JS; Brown, RH; Muntoni, F; Urtizberea, A; Bonnemann, C; Bushby, KM; (1999) 66th/67th ENMC sponsored international workshop: The limb-girdle muscular dystrophies, 26-28 March 1999, Naarden, The Netherlands. Neuromuscul Disord , 9 (6-7) 436 - 445.

Bertini, E; Burghes, A; Bushby, K; Estournet-Mathiaud, B; Finkel, RS; Hughes, RA; ... Zerres, K; + view all (2005) 134th ENMC International Workshop: Outcome Measures and Treatment of Spinal Muscular Atrophy, 11-13 February 2005, Naarden, The Netherlands. Neuromuscul Disord , 15 (11) 802 - 816. 10.1016/j.nmd.2005.07.005.

Blake, DJ; Brockington, M; Muntoni, F; Benson, MA; (2001) Golgi-localisation of fukutin and fukutin-related protein: implications for muscular dystrophy. MOL BIOL CELL , 12 85A - 85A.

Bochukova, E; Schoenmakers, N; Agostini, M; Schoenmakers, E; Rajanayagam, O; Keogh, JM; ... Chatterjee, K; + view all (2012) A mutation in the thyroid hormone receptor alpha gene. N Engl J Med , 366 (3) 243 - 249. 10.1056/NEJMoa1110296.

Boldrin, L; Muntoni, F; Morgan, JE; (2010) Are Human and Mouse Satellite Cells Really the Same? J HISTOCHEM CYTOCHEM , 58 (11) 941 - 955. 10.1369/jhc.2010.956201.

Boldrin, L; Muntoni, F; Morgan, JE; (2010) Are Human and Mouse Satellite Cells Really the Same? HEALTH TECHNOL ASSES , 14 (42) 941 - 955. 10.1369/jhc.2010.956201.

Boldrin, L; Muntoni, F; Morgan, JE; Zammit, PS; (2009) Mature adult dystrophic mouse muscle environment does not impede efficient engrafted satellite cell regeneration and self-renewal. Stem Cells , 27 (10) 2478 - 2487. 10.1002/stem.162.

Boldrin, L; Neal, A; Zammit, PS; Muntoni, F; Morgan, JE; (2012) Donor satellite cell engraftment is significantly augmented when the host niche is preserved and endogenous satellite cells are incapacitated. Stem Cells , 30 (9) 1971 - 1984. 10.1002/stem.1158. Gold open access

Boldrin, L; Zammit, PS; Muntoni, F; Morgan, JE; (2009) Mature Adult Dystrophic Mouse Muscle Environment Does Not Impede Efficient Engrafted Satellite Cell Regeneration and Self-Renewal. STEM CELLS , 27 (10) 2478 - 2487. 10.1002/stem.162.

Bolland, E; Manzur, AY; Milward, TM; Muntoni, F; (2000) Velocardiofacial syndrome associated with atrophy of the shoulder girdle muscles and cervicomedullary narrowing. Eur J Paediatr Neurol , 4 (2) 73 - 76. 10.1053/ejpn.2000.0266.

Bonne, G; Capeau, J; De Visser, M; Duboc, D; Merlini, L; Morris, GE; ... Schwartz, K; + view all (2002) 82nd ENMC international workshop, 5th international Emery-Dreifuss muscular dystrophy (EDMD) workshop, 1st Workshop of the MYO-CLUSTER project EUROMEN (European muscle envelope nucleopathies), 15-16 September 2000, Naarden, The Netherlands. Neuromuscul Disord , 12 (2) 187 - 194.

Bonne, G; Di Barletta, MR; Varnous, S; Becane, HM; Hammouda, EH; Merlini, L; ... Schwartz, K; + view all (1999) Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. NAT GENET , 21 (3) 285 - 288.

Bonne, G; Mercuri, E; Muchir, A; Urtizberea, A; Becane, HM; Recan, D; ... Muntoni, F; + view all (2000) Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene. ANN NEUROL , 48 (2) 170 - 180.

Bonne, G; Muchir, A; Recan, D; Becane, HM; Urtizberea, JA; Penisson-Besnier, I; ... Schwartz, K; + view all (1999) Spectrum of mutations in lamin A/C gene implicated in a new form of dilated cardiomyopathy with conduction defects and muscular dystrophy. CIRCULATION , 100 (18) 617 - 617.

Bonne, G; Yaou, RB; Béroud, C; Boriani, G; Brown, S; de Visser, M; ... Wehnert, M; + view all (2003) 108th ENMC International Workshop, 3rd Workshop of the MYO-CLUSTER project: EUROMEN, 7th International Emery-Dreifuss Muscular Dystrophy (EDMD) Workshop, 13-15 September 2002, Naarden, The Netherlands. Neuromuscul Disord , 13 (6) 508 - 515.

Boor, I; Nagtegaal, M; Kamphorst, W; van der Valk, P; Pronk, JC; van Horssen, J; ... van der Knaap, MS; + view all (2007) MLC1 is associated with the Dystrophin-Glycoprotein Complex at astrocytic endfeet. ACTA NEUROPATHOL , 114 (4) 403 - 410. 10.1007/s00401-007-0247-0.

Bovolenta, M; Neri, M; Fini, S; Fabris, M; Trabanelli, C; Venturoli, A; ... Ferlini, A; + view all (2008) A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies. BMC GENOMICS , 9 , Article 572. 10.1186/1471-2164-9-572. Green and gold open access
file

BREWSTER, BS; HARLEY, HG; MUNTONI, F; DUBOWITZ, V; HARPER, PS; STRONG, PN; (1995) CHANGES IN THE LEVEL OF EXPRESSION OF A PROTEIN RELATED TO THE MYOTONIC-DYSTROPHY GENE AND THE CORRELATION OF EXPRESSION WITH THE SIZE OR CTG REPEAT EXPANSION. AM J HUM GENET , 57 (4) 1367 - 1367.

Brockington, M; Blake, DJ; Prandini, P; Brown, SC; Torelli, S; Benson, MA; ... Muntoni, F; + view all (2001) A novel glycosyltransferase is mutated in a form of congenital muscular dystrophy with secondary laminin alpha 2 deficiency and abnormal glycosylation of alpha-dystroglycan. AM J HUM GENET , 69 (4) 229 - 229.

Brockington, M; Blake, DJ; Prandini, P; Brown, SC; Torelli, S; Benson, MA; ... Muntoni, F; + view all (2001) Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha 2 deficiency and abnormal glycosylation of alpha-dystroglycan. AM J HUM GENET , 69 (6) 1198 - 1209.

Brockington, M; Blake, DJ; Torelli, S; Brown, SC; Muntoni, F; (2002) The gene for a novel glycosyltransferase is mutated in congenital muscular dystrophy MDC1C and limb girdle muscular dystrophy 2I. NEUROMUSCULAR DISORD , 12 (3) 233 - 234.

Brockington, M; Brown, SC; Lampe, A; Yuva, Y; Feng, L; Jimenez-Mallebrera, C; ... Muntoni, F; + view all (2004) Prenatal diagnosis of Ullrich congenital muscular dystrophy using haplotype analysis and collagen VI immunocytochemistry. PRENATAL DIAG , 24 (6) 440 - 444. 10.1002/pd.902.

Brockington, M; Muntoni, F; (2005) The modulation of skeletal muscle glycosylation as a potential therapeutic intervention in muscular dystrophies. Acta Myol , 24 (3) 217 - 221.

Brockington, M; Prandini, P; Brown, SC; Sewry, CA; Blake, DJ; Muntoni, F; (2001) A new gene encoding a fukutin-like protein and its analysis in patients with congenital muscular dystrophy. NEUROMUSCULAR DISORD , 11 (6-7) 635 - 635.

Brockington, M; Sewry, C; Philpot, J; Topaloglu, H; Manheim, I; Bushby, K; ... Muntoni, F; + view all (1997) Search for the defective gene(s) responsible for merosin-positive Congenital Muscular Dystrophy. AM J HUM GENET , 61 (4) A269 - A269.

Brockington, M; Sewry, CA; Herrmann, R; Naom, I; Dearlove, A; Rhodes, M; ... Muntoni, F; + view all (2000) Assignment of a form of congenital muscular dystrophy with secondary merosin deficiency to chromosome 1q42. AM J HUM GENET , 66 (2) 428 - 435.

Brockington, M; Torelli, S; Prandini, P; Boito, C; Dolatshad, NF; Longman, C; ... Muntoni, F; + view all (2005) Localization and functional analysis of the LARGE family of glycosyltransferases: significance for muscular dystrophy. HUM MOL GENET , 14 (5) 657 - 665. 10.1093/hmg/ddi062.

Brockington, M; Torelli, S; Sharp, PS; Liu, K; Cirak, S; Brown, SC; ... Muntoni, F; + view all (2010) Transgenic Overexpression of LARGE Induces alpha-Dystroglycan Hyperglycosylation in Skeletal and Cardiac Muscle. PLOS ONE , 5 (12) , Article e14434. 10.1371/journal.pone.0014434. Green and gold open access
file

Brockington, M; Yuva, Y; Prandini, P; Brown, SC; Torelli, S; Benson, MA; ... Muntoni, F; + view all (2001) Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C. HUM MOL GENET , 10 (25) 2851 - 2859.

Brodsky, GL; Mestroni, L; Muntoni, F; Sewry, C; Miocic, S; Sinagra, G; (2001) Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement - Response. CIRCULATION , 103 (4) E20 - E20.

Brodsky, GL; Muntoni, F; Di Barletta, MR; Miocic, S; Sinagra, G; Sewry, C; ... Mestroni, L; + view all (2000) A lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement. J AM COLL CARDIOL , 35 (2) 202A - 202A.

Brodsky, GL; Muntoni, F; Miocic, S; Sinagra, G; Sewry, C; Mestroni, L; (2000) Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement. CIRCULATION , 101 (5) 473 - 476.

Brown, SC; Muntoni, F; Sewry, CA; (2001) Non-sarcolemmal muscular dystrophies. BRAIN PATHOL , 11 (2) 193 - 205.

Brown, SC; Piercy, RJ; Muntoni, F; Sewry, CA; (2008) Investigating the pathology of Emery-Dreifuss muscular dystrophy. BIOCHEM SOC T , 36 1335 - 1338. 10.1042/BST0361335.

Brown, SC; Sewry, CA; Brockington, M; Muntoni, F; (2001) alpha-dystroglycan expression and secondary merosin deficiency. NEUROMUSCULAR DISORD , 11 (6-7) 636 - 636.

Brown, SC; Torelli, S; Brockington, M; Yuva, Y; Jimenez, C; Feng, L; ... Muntoni, F; + view all (2004) Abnormalities in alpha-dystroglycan expression in MDC1C and LGMD21 muscular dystrophies. AM J PATHOL , 164 (2) 727 - 737.

Brown, SC; Torelli, S; Jimenez, C; Muntoni, F; Sewry, CA; (2004) Immunopathology and molecular genetics of dystrophinopathies. Suppl Clin Neurophysiol , 57 313 - 321.

Brown, SC; Torelli, S; Ugo, I; De Biasia, F; Howman, EV; Poon, E; ... Muntoni, F; + view all (2005) Syncoilin upregulation in muscle of patients with neuromuscular disease. MUSCLE NERVE , 32 (6) 715 - 725. 10.1002/mus.20431.

Budde, BS; Namavar, Y; Barth, PG; Poll-The, BT; Nurnberg, G; Becker, C; ... Baas, F; + view all (2008) tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. NAT GENET , 40 (9) 1113 - 1118. 10.1038/ng.204.

Burke, G; Hiscock, A; Klein, A; Niks, EH; Main, M; Manzur, AY; ... Robb, S; + view all (2013) Salbutamol benefits children with congenital myasthenic syndrome due to DOK7 mutations. Neuromuscular Disorders , 23 (2) 170 - 175. 10.1016/j.nmd.2012.11.004. Green and gold open access
file

Burns, J; Menezes, M; Finkel, RS; Estilow, T; Moroni, I; Pagliano, E; ... Shy, ME; + view all (2013) Transitioning outcome measures: relationship between the CMTPedS and CMTNSv2 in children, adolescents, and young adults with Charcot-Marie-Tooth disease. J Peripher Nerv Syst , 18 (2) 177 - 180. 10.1111/jns5.12024.

Burns, J; Ouvrier, R; Estilow, T; Shy, R; Laurá, M; Eichinger, K; ... Finkel, RS; + view all (2012) Symmetry of foot alignment and ankle flexibility in paediatric Charcot-Marie-Tooth disease. Clin Biomech (Bristol, Avon) , 27 (7) 744 - 747. 10.1016/j.clinbiomech.2012.02.006.

Burns, J; Ouvrier, R; Estilow, T; Shy, R; Laurá, M; Pallant, JF; ... Finkel, RS; + view all (2012) Validation of the Charcot-Marie-Tooth disease pediatric scale as an outcome measure of disability. Ann Neurol , 71 (5) 642 - 652. 10.1002/ana.23572.

Bushby, K; Anderson, LVB; Pollitt, C; Naom, I; Muntoni, F; Bindoff, L; (1998) Abnormal merosin in adults - A new form of late onset muscular dystrophy not linked to chromosome 6q2. BRAIN , 121 581 - 588.

Bushby, K; Anderson, LVB; Sewry, C; Pogue, R; Taylor, J; Pollitt, C; Muntoni, F; (1997) Dystrophinopathy or sarcoglycanopathy - the importance of a full diagnostic assessment in suspected manifesting carriers of Duchenne and Becker muscular dystrophy. J MED GENET , 34 522 - 522.

Bushby, K; Muntoni, F; Bourke, JP; (2003) 107th ENMC international workshop: the management of cardiac involvement in muscular dystrophy and myotonic dystrophy. 7th-9th June 2002, Naarden, the Netherlands. Neuromuscul Disord , 13 (2) 166 - 172.

Bushby, K; Muntoni, F; Urtizberea, A; Hughes, R; Griggs, R; (2004) Report on the 124th ENMC International Workshop. Treatment of Duchenne muscular dystrophy; defining the gold standards of management in the use of corticosteroids. 2-4 April 2004, Naarden, The Netherlands. Neuromuscul Disord , 14 (8-9) 526 - 534. 10.1016/j.nmd.2004.05.006.

Campbell, L; Potter, A; Ignatius, J; Muntoni, F; Dubowitz, V; Davies, KE; (1997) Genotype/phenotype correlation in childhood autosomal recessive spinal muscular atrophy (SMA) by pulsed field gel analysis. AM J HUM GENET , 61 (4) A330 - A330.

Carss, KJ; Stevens, E; Foley, AR; Cirak, S; Riemersma, M; Torelli, S; ... Muntoni, F; + view all (2013) Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan. Am J Hum Genet 10.1016/j.ajhg.2013.05.009.

Cau, M; Cao, A; Loi, D; Puddu, A; Muntoni, F; Mateddu, A; Melis, MA; (1998) Two novel mutations (10410 T-->G; 10296 del C) at carboxy-terminus of the dystrophin gene associated with mental retardation. Mutations in brief no. 149. Online. Hum Mutat , 12 (1) 70 - ?. 10.1002/(SICI)1098-1004(1998)12:1<70::AID-HUMU13>3.0.CO;2-G.

Cazzella, V; Martone, J; Pinnarò, C; Santini, T; Twayana, SS; Sthandier, O; ... Bozzoni, I; + view all (2012) Exon 45 skipping through U1-snRNA antisense molecules recovers the Dys-nNOS pathway and muscle differentiation in human DMD myoblasts. Mol Ther , 20 (11) 2134 - 2142. 10.1038/mt.2012.178.

Chan, SH; Reghan Foley, A; Phadke, R; Mathew, AA; Pitt, M; Sewry, C; Muntoni, F; (2014) Limb girdle muscular dystrophy due to LAMA2 mutations: Diagnostic difficulties due to associated peripheral neuropathy. Neuromuscul Disord 10.1016/j.nmd.2014.05.008.

CIANCHETTI, C; FRATTA, AL; MUNTONI, F; MARROSU, G; MARROSU, MG; (1994) TOXIC EFFECT OF INTRAVENTRICULAR INTERFERON-ALPHA IN SUBACUTE SCLEROSING PANENCEPHALITIS. ITAL J NEUROL SCI , 15 (3) 153 - 155.

Cianchetti, C; Marrosu, MG; Muntoni, F; Fratta, AL; Zuddas, A; (1998) Intraventricular alpha-interferon in subacute sclerosing panencephalitis. NEUROLOGY , 50 (1) 315 - 315.

CIANCHETTI, C; MUNTONI, F; FALCHI, AM; NUCARO, A; SANNIOFANCELLO, G; CAO, A; MARROSU, MG; (1992) X-LINKED MENTAL-RETARDATION AND CHARACTERISTIC PHYSICAL FEATURES IN 2 BROTHERS WITH DUPLICATION XP22-XPTER. AM J MED GENET , 43 (1-2) 475 - 478.

Cirak, S; Arechavala-Gomeza, V; Guglieri, M; Feng, L; Torelli, S; Anthony, K; ... Muntoni, F; + view all (2011) Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study. LANCET , 378 (9791) 595 - 605. 10.1016/S0140-6736(11)60756-3. Gold open access

Cirak, S; Feng, L; Anthony, K; Arechavala-Gomeza, V; Torelli, S; Sewry, C; ... Muntoni, F; + view all (2012) Restoration of the dystrophin-associated glycoprotein complex after exon skipping therapy in Duchenne muscular dystrophy. Mol Ther , 20 (2) 462 - 467. 10.1038/mt.2011.248.

Cirak, S; Foley, AR; Herrmann, R; Willer, T; Yau, S; Stevens, E; ... Muntoni, F; + view all (2013) ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies. Brain , 136 (1) 269 -281. 10.1093/brain/aws312. Green and gold open access
file

Clarke, NF; Waddell, LB; Cooper, ST; Perry, M; Smith, RLL; Kornberg, AJ; ... North, KN; + view all (2010) Recessive Mutations in RYR1 Are a Common Cause of Congenital Fiber Type Disproportion. HUM MUTAT , 31 (7) E1544 - E1550. 10.1002/humu.21278.

Clement, E; Mercuri, E; Godfrey, C; Smith, J; Robb, S; Kinali, M; ... Muntoni, F; + view all (2008) Brain Involvement in Muscular Dystrophies with Defective Dystroglycan Glycosylation. ANN NEUROL , 64 (5) 573 - 582. 10.1002/ana.21482.

Clement, EM; Feng, L; Mein, R; Sewry, CA; Robb, SA; Manzur, AY; ... Muntoni, F; + view all (2012) Relative frequency of congenital muscular dystrophy subtypes: analysis of the UK diagnostic service 2001-2008. Neuromuscul Disord , 22 (6) 522 - 527. 10.1016/j.nmd.2012.01.010.

Clement, EM; Godfrey, C; Tan, J; Brockington, M; Torelli, S; Feng, L; ... Muntoni, F; + view all (2008) Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant. ARCH NEUROL-CHICAGO , 65 (1) 137 - 141.

CLERK, A; MUNTONI, F; STRONG, P; (1990) DYSTROPHIN AND DYSTROPHIN-LIKE PROTEINS IN MUSCLE AND BRAIN OF NORMAL AND MDX MICE. BIOCHEMICAL SOCIETY TRANSACTIONS , 18 (3) 388 - 389.

CLERK, A; MUNTONI, F; STRONG, PN; (1993) A DYSTROPHIN-IMMUNOREACTIVE PROTEIN IN MAMMALIAN BRAIN. J NEUROCHEM , 60 (2) 435 - 441.

Cohen, N; Dunckley, MG; Rimessi, P; Gualandi, F; Ferlini, A; Muntoni, F; (2001) An intronic mutation in the dystrophin gene causing X-linked dilated cardiomyopathy may indicate the presence of splicing regulatory motifs. NEUROMUSCULAR DISORD , 11 (6-7) 639 - 640.

Cohen, N; Muntoni, F; (2004) Multiple pathogenetic mechanisms in X linked dilated cardiomyopathy. HEART , 90 (8) 835 - 841. 10.1136/hrt.2003.023390.

Cohen, N; Rimessi, P; Gualandi, F; Ferlini, A; Muntoni, F; (2004) In vivo study of an aberrant dystrophin exon inclusion in X-linked dilated cardiomyopathy. BIOCHEM BIOPH RES CO , 317 (4) 1215 - 1220. 10.1016/j.bbrc.2004.03.175.

Colombo, I; Scoto, M; Manzur, AY; Robb, SA; Maggi, L; Gowda, V; ... Muntoni, F; + view all (2014) Congenital myopathies: Natural history of a large pediatric cohort. Neurology 10.1212/WNL.0000000000001110.

CONGIA, M; CUCCA, F; FRAU, F; LAMPIS, R; CLEMENTE, MG; MUNTONI, F; ... CAO, A; + view all (1993) GENE-FREQUENCY AND MECHANISM OF GENERATION OF A NOVEL HLA-DQB1 ALLELE. AM J HUM GENET , 53 (3) 1611 - 1611.

CONGIA, M; FRAU, F; LAMPIS, R; FRAU, R; MELE, R; CUCCA, F; ... DEVIRGILLIS, S; + view all (1992) A HIGH-FREQUENCY OF THE A30, B18, DR3, DRW52, DQW2 EXTENDED HAPLOTYPE IN SARDINIAN CELIAC-DISEASE PATIENTS - FURTHER EVIDENCE THAT DISEASE SUSCEPTIBILITY IS CONFERRED BY DQ A1-STAR-0501, B1-STAR-0201. TISSUE ANTIGENS , 39 (2) 78 - 83.

Counsell, SJ; Devile, C; Mercuri, E; Allsop, JM; Birch, R; Muntoni, F; (2002) Magnetic resonance imaging assessment of infantile myofibromatosis. CLIN RADIOL , 57 (1) 67 - 70. 10.1053/crad.2001.0723.

Crabtree, NJ; Kibirige, MS; Fordham, JN; Banks, LM; Muntoni, F; Chinn, D; ... Shaw, NJ; + view all (2004) The relationship between lean body mass and bone mineral content in paediatric health and disease. BONE , 35 (4) 965 - 972. 10.1016/j.bone.2004.06.009.

Crilley, JG; Boehm, EA; Rajagopalan, B; Blamire, AM; Styles, P; Muntoni, F; ... Clarke, K; + view all (2000) Magnetic resonance spectroscopy evidence of abnormal cardiac energetics in Xp21 muscular dystrophy. J AM COLL CARDIOL , 36 (6) 1953 - 1958.

CUCCA, F; CONGIA, M; MUNTONI, F; FRAU, F; LAMPIS, R; CLEMENTE, MG; ... CAO, A; + view all (1993) HLA CLASS-II GENES AND INSULIN-DEPENDENT DIABETES-MELLITUS (IDDM) IN SARDINIA. AM J HUM GENET , 53 (3) 789 - 789.

CUCCA, F; MUNTONI, F; LAMPIS, R; FRAU, F; ARGIOLAS, L; SILVETTI, M; ... CONGIA, M; + view all (1993) COMBINATIONS OF SPECIFIC DRB1, DQA1, DQB1 HAPLOTYPES ARE ASSOCIATED WITH INSULIN-DEPENDENT DIABETES-MELLITUS IN SARDINIA. HUM IMMUNOL , 37 (2) 85 - 94.

CUCCA, F; MUNTONI, F; LAMPIS, R; FRAU, F; CAO, A; DEVIRGILIIS, S; CONGIA, M; (1993) A NOVEL HLA-DQB1 ALLELE - EVIDENCE FOR GENE CONVERSION EVENT PROMOTED BY CHI-LIKE SEQUENCE AT DQB1 LOCUS. TISSUE ANTIGENS , 41 (5) 263 - 266.

Cullup, T; Lamont, PJ; Cirak, S; Damian, MS; Wallefeld, W; Gooding, R; ... Jungbluth, H; + view all (2012) Mutations in MYH7 cause Multi-minicore Disease (MmD) with variable cardiac involvement. Neuromuscul Disord , 22 (12) 1096 - 1104. 10.1016/j.nmd.2012.06.007.

D'Alessandro, M; Naom, I; Ferlini, A; Sewry, C; Dubowitz, V; Muntoni, F; (1999) Is there selection in favour of heterozygotes in families with merosin-deficient congenital muscular dystrophy? HUM GENET , 105 (4) 308 - 313.

Davidson, G; Murphy, S; Polke, J; Laura, M; Salih, M; Muntoni, F; ... Reilly, M; + view all (2012) Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort. J Neurol , 259 (8) 1673 - 1685. 10.1007/s00415-011-6397-y.

Davis, MR; Haan, E; Jungbluth, H; Sewry, C; North, K; Muntoni, F; ... Laing, NG; + view all (2003) Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene. NEUROMUSCULAR DISORD , 13 (2) 151 - 157. 10.1016/S0960-8966(02)00218-3.

de Bernabe, DBV; Voit, T; Longman, C; Steinbrecher, A; Straub, V; Yuva, Y; ... Muntoni, F; + view all (2004) Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome. J MED GENET , 41 (5) , Article e61. 10.1136/jmg.2003.013870.

De Palma, S; Capitanio, D; Vasso, M; Braghetta, P; Scotton, C; Bonaldo, P; ... Gelfi, C; + view all (2014) Muscle proteomics reveals novel insights into the pathophysiological mechanisms of collagen VI myopathies. J Proteome Res 10.1021/pr500675e.

De Sanctis, R; Pane, M; Sivo, S; Ricotti, V; Baranello, G; Frosini, S; ... Mercuri, E; + view all (2014) Suitability of North Star Ambulatory Assessment in young boys with Duchenne muscular dystrophy. Neuromuscul Disord 10.1016/j.nmd.2014.09.015.

Deodato, F; Sabatelli, M; Ricci, E; Mercuri, E; Muntoni, F; Sewry, C; ... Guzzetta, F; + view all (2002) Hypermyelinating neuropathy, mental retardation and epilepsy in a case of merosin deficiency. NEUROMUSCULAR DISORD , 12 (4) 392 - 398.

Di Foggia, V; Zhang, X; Licastro, D; Gerli, MF; Phadke, R; Muntoni, F; ... Marino, S; + view all (2014) Bmi1 enhances skeletal muscle regeneration through MT1-mediated oxidative stress protection in a mouse model of dystrophinopathy. J Exp Med 10.1084/jem.20140317.

Dincer, P; Balci, B; Yuva, Y; Talim, B; Brockington, M; Dincel, D; ... Topaloglu, H; + view all (2003) A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of alpha-dystroglycan. NEUROMUSCULAR DISORD , 13 (10) 771 - 778. 10.1016/S0960-8966(03)00161-5.

Dlamini, N; Voermans, NC; Lillis, S; Stewart, K; Kamsteeg, EJ; Drost, G; ... Jungbluth, H; + view all (2013) Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis. Neuromuscul Disord , 23 (7) 540 - 548. 10.1016/j.nmd.2013.03.008.

Dodds, E; Dunckley, MG; Roberts, RG; Muntoni, F; Shaw, CE; (2001) Overexpressed human survival motor neurone isoforms, SMN+exon7 and SMN+exon7, both form intranuclear gems but differ in cytoplasmic distribution. FEBS LETT , 495 (1-2) 31 - 38.

Dolatshad, NF; Brockington, M; Torelli, S; Skordis, L; Wever, U; Wells, DJ; ... Brown, SC; + view all (2005) Mutated fukutin-related protein (FKRP) localises as wild type in differentiated muscle cells. EXP CELL RES , 309 (2) 370 - 378. 10.1016/j.yexcr.2005.06.017.

Donkervoort, S; Hu, Y; Stojkovic, T; Voermans, N; Foley, AR; Leach, ME; ... Bönnemann, CG; + view all (2014) Mosaicism for Dominant Collagen VI Mutations as a Cause for Intra-Familial Phenotypic Variability. Hum Mutat 10.1002/humu.22691.

Dowling, JJ; Lillis, S; Amburgey, K; Zhou, HY; Al-Sarraj, S; Buk, SJA; ... Jungbluth, H; + view all (2011) King-Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) gene. NEUROMUSCULAR DISORD , 21 (6) 420 - 427. 10.1016/j.nmd.2011.03.006.

Dubowitz, V; Kinali, M; Main, M; Mercuri, E; Muntoni, F; (2002) Remission of clinical signs in early duchenne muscular dystrophy on intermittent low-dosage prednisolone therapy. Eur J Paediatr Neurol , 6 (3) 153 - 159.

DUBOWITZ, V; MERCURI, E; MUNTONI, F; PHILPOT, J; SEWRY, CA; SHORER, Z; (1995) PERIPHERAL AND CENTRAL-NERVOUS-SYSTEM INVOLVEMENT IN MEROSIN-DEFICIENT CONGENITAL MUSCULAR-DYSTROPHY. NEUROLOGY , 45 (4) A407 - A407.

Ducreux, S; Zorzato, F; Ferreiro, A; Jungbluth, H; Muntoni, F; Monnier, N; ... Treves, S; + view all (2006) Functional properties of ryanodine receptors carrying three amino acid substitutions identified in patients affected by multi-minicore disease and central core disease, expressed in immortalized lymphocytes. BIOCHEM J , 395 259 - 266. 10.1042/BJ20051282.

Ducreux, S; Zorzato, F; Muller, C; Sewry, C; Muntoni, F; Quinlivan, R; ... Treves, S; + view all (2004) Effect of ryanodine receptor mutations on interleukin-6 release and intracellular calcium homeostasis in human myotubes from malignant hyperthermia-susceptible individuals and patients affected by central core disease. J BIOL CHEM , 279 (42) 43838 - 43846. 10.1074/jbc.M403612200. Gold open access

Ealing, J; Webster, R; Brownlow, S; Abdelgany, A; Oosterhuis, H; Muntoni, F; ... Beeson, D; + view all (2002) Mutations in congenital myasthenic syndromes reveal an epsilon subunit C-terminal cysteine, C470, crucial for maturation and surface expression of adult AChR. HUM MOL GENET , 11 (24) 3087 - 3096.

Ellis, JA; Vroom, E; Muntoni, F; (2013) 195th ENMC International Workshop: Newborn screening for Duchenne muscular dystrophy 14-16th December, 2012, Naarden, The Netherlands. Neuromuscul Disord 10.1016/j.nmd.2013.05.008.

Eperon, IC; Muntoni, F; (2003) Response to Buratti et al.: Can a 'patch' in a skipped exon make the pre-mRNA splicing machine run better? TRENDS MOL MED , 9 (6) 233 - 234. 10.1016/S1471-4914(03)00068-6.

Esapa, CT; Benson, MA; Schroder, JE; Martin-Rendon, E; Brockington, M; Brown, SC; ... Blake, DJ; + view all (2002) Functional requirements for fukutin-related protein in the Golgi apparatus. HUM MOL GENET , 11 (26) 3319 - 3331.

Fatkin, D; MacRae, C; Sasaki, T; Wolff, MR; Porcu, M; Frenneaux, M; ... McDonough, B; + view all (1999) Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease. NEW ENGL J MED , 341 (23) 1715 - 1724.

Feng, LH; Bhardwaj, N; Muntoni, F; Sewry, CA; (2009) The value of immunolabelling of myosin heavy chains in the assessment of muscle biopsies. NEUROMUSCULAR DISORDERS , 19 (8-9) 604 - 604. 10.1016/j.nmd.2009.06.191.

Ferlini, A; Galie, N; Merlini, L; Sewry, C; Branzi, A; Muntoni, F; (1998) A novel Alu-like element rearranged in the dystrophin gene causes a splicing mutation in a family with X-linked dilated cardiomyopathy. AM J HUM GENET , 63 (2) 436 - 446.

Ferlini, A; Muntoni, F; (1998) The 5 ' region of intron 11 of the dystrophin gene contains target sequences for mobile elements and three overlapping ORFs. BIOCHEM BIOPH RES CO , 242 (2) 401 - 406.

Ferlini, A; Muntoni, F; (1997) The dystrophin gene intron 11 has target sequences for mobile elements and one ORF transcribed in skeletal and heart muscle. AM J HUM GENET , 61 (4) A170 - A170.

Ferlini, A; Patarnello, T; Dunckley, M; Muntoni, F; (1999) LINE1 element tails: a possible role in alternative splicing relevant for primates genome evolution? AM J HUM GENET , 65 (4) A186 - A186.

Ferlini, A; Sewry, C; Melis, MA; Mateddu, A; Muntoni, F; (1999) X-linked dilated cardiomyopathy and the dystrophin gene. NEUROMUSCULAR DISORD , 9 (5) 339 - 346.

Fernandez-Fuente, M; Ames, EG; Wagner, ML; Zhou, H; Strom, M; Zammit, PS; ... Piercy, RJ; + view all (2008) Assessment of the transformation of equine skin-derived fibroblasts to multinucleated skeletal myotubes following lentiviral-induced expression of equine myogenic differentiation 1. AM J VET RES , 69 (12) 1637 - 1645.

Fernandez-Fuente, M; Martin-Duque, P; Vassaux, G; Brown, SC; Muntoni, F; Terracciano, CM; Piercy, RJ; (2013) Adenovirus-mediated expression of myogenic differentiation factor 1 (MyoD) in equine and human dermal fibroblasts enables their conversion to caffeine-sensitive myotubes. Neuromuscul Disord 10.1016/j.nmd.2013.11.009.

Ferreiro, A; Estournet, B; Laroche, C; Cabello, A; Gutierrez, E; Straub, V; ... Guicheney, P; + view all (2001) Genetic characterisation of multi-minicore disease: identification of a first locus and evidence for genetic heterogeneity. NEUROMUSCULAR DISORD , 11 (6-7) 622 - 622.

Ferreiro, A; Quijano-Roy, S; Pichereau, C; Moghadaszadeh, B; Goemans, N; Bonnemann, C; ... Guicheney, P; + view all (2002) Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: Reassessing the nosology of early-onset myopathies. AM J HUM GENET , 71 (4) 739 - 749.

Fisher, I; Abraham, D; Bouri, K; Hoffman, EP; Muntoni, F; Morgan, J; (2005) Prednisolone-induced changes in dystrophic skeletal muscle. FASEB J , 19 (2) 834 - +. 10.1096/fj.04-2511fje.

Fisher, I; Morgan, J; Abraham, D; Brittan, H; Dunn, M; Muntoni, F; (2001) Glucocorticoid-induced changes in the gene expression of dystrophic mouse muscle. NEUROMUSCULAR DISORD , 11 (6-7) 663 - 663.

Fletcher, S; Adkin, CF; Meloni, P; Wong, B; Muntoni, F; Kole, R; ... Wilton, SD; + view all (2012) Targeted exon skipping to address "leaky" mutations in the dystrophin gene. Mol Ther Nucleic Acids , 1 e48 - ?. 10.1038/mtna.2012.40.

Fletcher, S; Meloni, PL; Johnsen, RD; Wong, BL; Muntoni, F; Wilton, SD; (2013) Antisense suppression of donor splice site mutations in the dystrophin gene transcript. Mol Genet Genomic Med , 1 (3) 162 - 173. 10.1002/mgg3.19.

Foley, AR; Menezes, MP; Pandraud, A; Gonzalez, MA; Al-Odaib, A; Abrams, AJ; ... Houlden, H; + view all (2013) Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. Brain , 137 (1) , Article awt315. 10.1093/brain/awt315. Green and gold open access
filefile

Foley, AR; Pitceathly, RD; He, J; Kim, J; Pearson, NM; Muntoni, F; Hanna, MG; (2014) Whole-genome sequencing and the clinician: a tale of two cities. J Neurol Neurosurg Psychiatry 10.1136/jnnp-2013-306264. Green and gold open access
file

Foley, AR; Quijano-Roy, S; Collins, J; Straub, V; McCallum, M; Deconinck, N; ... Bönnemann, CG; + view all (2013) Natural history of pulmonary function in collagen VI-related myopathies. Brain 10.1093/brain/awt284.

Forrest, S; Meloni, PL; Muntoni, F; Kim, J; Fletcher, S; Wilton, SD; (2010) Personalized exon skipping strategies to address clustered non-deletion dystrophin mutations. NEUROMUSCULAR DISORD , 20 (12) 810 - 816.

FRATTA, W; COLLU, M; MARTELLOTTA, MC; PICHIRI, M; MUNTONI, F; GESSA, GL; (1987) STRESS-INDUCED INSOMNIA - OPIOID-DOPAMINE INTERACTIONS. EUR J PHARMACOL , 142 (3) 437 - 440.

Fridman, V; Bundy, B; Reilly, MM; Pareyson, D; Bacon, C; Burns, J; ... on behalf of the Inherited Neuropathies Consortium,; + view all (2014) CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis. J Neurol Neurosurg Psychiatry 10.1136/jnnp-2014-308826.

Garralda, ME; Kinali, M; Cirak, S; Bushby, K; Guglieri, M; Straub, V; Muntoni, F; (2011) Emotional impact of a paediatric exon-skipping therapy trial. Dev Med Child Neurol , 53 (12) 1157 - 1159. 10.1111/j.1469-8749.2011.04128.x.

Garralda, ME; McConachie, H; Le Couteur, A; Sriranjan, S; Chakrabarti, I; Cirak, S; ... Muntoni, F; + view all (2013) Emotional impact of genetic trials in progressive paediatric disorders: a dose-ranging exon-skipping trial in Duchenne muscular dystrophy. Child Care Health Dev , 39 (3) 449 - 455. 10.1111/j.1365-2214.2012.01387.x. Green and gold open access
file

Garralda, ME; Muntoni, F; Cunniff, A; Caneja, AD; (2006) Knee-ankle-foot orthosis in children with duchenne muscular dystrophy: User views and adjustment. EUR J PAEDIATR NEURO , 10 (4) 186 - 191. 10.1016/j.ejpn.2006.07.002.

Geranmayeh, F; Clement, E; Feng, LH; Sewry, C; Pagan, J; Mein, R; ... Muntoni, F; + view all (2010) Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations. NEUROMUSCULAR DISORD , 20 (4) 241 - 250. 10.1016/j.nmd.2010.02.001.

GESSA, GL; MUNTONI, F; COLLU, M; VARGIU, L; MEREU, G; (1985) LOW-DOSES OF ETHANOL ACTIVATE DOPAMINERGIC-NEURONS IN THE VENTRAL TEGMENTAL AREA. BRAIN RES , 348 (1) 201 - 203.

Ghassemi, F; Vukcevic, M; Xu, L; Zhou, HY; Meissner, G; Muntoni, F; ... Treves, S; + view all (2009) A recessive ryanodine receptor 1 mutation in a CCD patient increases channel activity. CELL CALCIUM , 45 (2) 192 - 197. 10.1016/j.ceca.2008.10.001.

Giatrakos, N; Kinali, M; Stephens, D; Dawson, D; Muntoni, F; Nihoyannopoulos, P; (2006) Cardiac tissue velocities and strain rate in the early detection of myocardial dysfunction of asymptomatic boys with Duchenne's muscular dystrophy: relationship to clinical outcome. HEART , 92 (6) 840 - 842. 10.1136/hrt.2005.067710.

Gnecchi-Ruscone, T; Taylor, J; Mercuri, E; Paternostro, G; Pogue, R; Bushby, K; ... Camici, PG; + view all (1999) Cardiomyopathy in duchenne, becker, and sarcoglycanopathies: A role for coronary dysfunction? MUSCLE NERVE , 22 (11) 1549 - 1556.

GnecchiRuscone, T; Paternostro, G; Taylor, J; Muntoni, F; Camici, PG; (1997) Coronary flow reserve in muscle dystrophies. CIRCULATION , 96 (8) 540 - 540.

Godfrey, C; Clement, E; Abbs, S; Muntoni, F; (2011) EXCLUSION OF WWP1 MUTATIONS IN A COHORT OF DYSTROGLYCANOPATHY PATIENTS. MUSCLE NERVE , 44 (3) 388 - 392. 10.1002/mus.22068.

Godfrey, C; Clement, E; Mein, R; Brockington, M; Smith, J; Talim, B; ... Muntoni, F; + view all (2007) Refining genotype - phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. BRAIN , 130 2725 - 2735. 10.1093/brain/awm212.

Godfrey, C; Escolar, D; Brockington, M; Clement, EM; Mein, R; Jimenez-Mallebrera, C; ... Muntoni, F; + view all (2006) Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy. ANN NEUROL , 60 (5) 603 - 610. 10.1002/ana.21006.

Godfrey, C; Foley, AR; Clement, E; Muntoni, F; (2011) Dystroglycanopathies: coming into focus. CURR OPIN GENET DEV , 21 (3) 278 - 285. 10.1016/j.gde.2011.02.001.

Goodwin, F; Muntoni, F; Dubowitz, V; (1997) Epilepsy in Duchenne and Becker muscular dystrophies. Eur J Paediatr Neurol , 1 (4) 115 - 119.

Goodwin, FC; Muntoni, F; (2005) Cardiac involvement in muscular dystrophies: Molecular mechanisms. MUSCLE NERVE , 32 (5) 577 - 588. 10.1002/mus.20352.

Greener, MJ; Sewry, CA; Muntoni, F; Roberts, RG; (2002) The 3 '-untranslated region of the dystrophin gene - conservation and consequences of loss. EUR J HUM GENET , 10 (7) 413 - 420. 10.1038/sj.ejhg.5200822.

Grohmann, K; Schuelke, M; Diers, A; Hoffmann, K; Lucke, B; Adams, C; ... Hubner, C; + view all (2001) Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1. NAT GENET , 29 (1) 75 - 77.

Grohmann, K; Varon, R; Stolz, P; Schuelke, M; Janetzki, C; Bertini, E; ... Hubner, C; + view all (2003) Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1). ANN NEUROL , 54 (6) 719 - 724. 10.1002/ana.10755.

Gualandi, F; Rimessi, P; Cardazzo, B; Toffolatti, L; Dunckley, MG; Calzolari, E; ... Ferlini, A; + view all (2003) Genomic definition of a pure intronic dystrophin deletion responsible for an XLDC splicing mutation: in vitro mimicking and antisense modulation of the splicing abnormality. GENE , 311 25 - 33. 10.1016/0378-1119(03)00527-4.

Gualandi, F; Rimessi, P; Trabanelli, C; Spitali, P; Neri, M; Patarnello, T; ... Ferlini, A; + view all (2006) Intronic breakpoint definition and transcription analysis in DMD/BMD patients with deletion/duplication at the 5 ' mutation hot spot of the dystrophin gene. GENE , 370 26 - 33. 10.1016/j.gene.2005.11.002.

Gualandi, F; Trabanelli, C; Rimessi, P; Calzolari, E; Toffolatti, L; Patarnello, T; ... Ferlini, A; + view all (2003) Multiple exon skipping and RNA circularisation contribute to the severe phenotypic expression of exon 5 dystrophin deletion. J MED GENET , 40 (8) , Article e100.

Guergueltcheva, V; Müller, JS; Dusl, M; Senderek, J; Oldfors, A; Lindbergh, C; ... Lochmüller, H; + view all (2011) Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations. J Neurol 10.1007/s00415-011-6262-z.

Gupta, VA; Ravenscroft, G; Shaheen, R; Todd, EJ; Swanson, LC; Shiina, M; ... Beggs, AH; + view all (2013) Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy. Am J Hum Genet 10.1016/j.ajhg.2013.10.020.

Haddad, F; Noordeen, MHH; Muntoni, F; (1999) Blood Loss in Duchenne Muscular Dystrophy: A Vascular Smooth Muscle Phenomenon. Journal of Pediatric Orthopaedics , 9 58 - 61.

HAEGERT, DG; MUNTONI, F; MURRU, MR; COSTA, G; FRANCIS, GS; MARROSU, MG; (1993) HLA-DQA1 AND HLA-DQB1 ASSOCIATIONS WITH MULTIPLE-SCLEROSIS IN SARDINIA AND FRENCH-CANADA - EVIDENCE FOR IMMUNOGENETICALLY DISTINCT PATIENT GROUPS. NEUROLOGY , 43 (3) 548 - 552.

HAEGERT, DG; MUNTONI, F; MURRU, MR; COSTA, G; MARROSU, MG; FRANCIS, GS; (1993) HLA AND MS - REPLY. NEUROLOGY , 43 (11) 2427 - 2427.

Haliloglu, G; Chattopadhyay, A; Skorodis, L; Manzur, A; Mercuri, E; Talim, B; ... Topaloglu, H; + view all (2002) Spinal muscular atrophy with progressive myoclonic epilepsy: Report of new cases and review of the literature. NEUROPEDIATRICS , 33 (6) 314 - 319.

Hanks, S; Adams, S; Douglas, J; Arbour, L; Atherton, DJ; Balci, S; ... Rahman, N; + view all (2003) Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis. AM J HUM GENET , 73 (4) 791 - 800.

Hara, Y; Balci-Hayta, B; Yoshida-Moriguchi, T; Kanagawa, M; Beltrán-Valero de Bernabé, D; Gündeşli, H; ... Campbell, KP; + view all (2011) A dystroglycan mutation associated with limb-girdle muscular dystrophy. N Engl J Med , 364 (10) 939 - 946. 10.1056/NEJMoa1006939.

Hara, Y; Balci-Hayta, B; Yoshida-Moriguchi, T; Kanagawa, M; de Bernabe, DBV; Gundesli, H; ... Campbell, KP; + view all (2011) BRIEF REPORT A Dystroglycan Mutation Associated with Limb-Girdle Muscular Dystrophy. NEW ENGL J MED , 364 (10) 939 - 946.

Harms, MB; Ori-McKenney, KM; Scoto, M; Tuck, EP; Bell, S; Ma, D; ... Baloh, RH; + view all (2012) Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy. Neurology , 78 (22) 1714 - 1720. 10.1212/WNL.0b013e3182556c05.

Hartley, L; Kinali, M; Knight, R; Mercuri, E; Hubner, C; Bertini, E; ... Muntoni, F; + view all (2007) A congenital myopathy with diaphragmatic weakness not linked to the SMARD1 locus. NEUROMUSCULAR DISORD , 17 (2) 174 - 179. 10.1016/j.nmd.2006.11.002.

Heemskerk, H; Meng, J; Chun, S; Asfahani, R; Muntoni, F; Morgan, J; (2011) Assessment of the variability between human AC133+stem cells of different donors in delivery to skeletal muscle and subsequent contribution to muscle regeneration. HUM GENE THER , 22 (10) A62 - A62.

HelblingLeclerc, A; Topaloglu, H; Tome, FMS; Sewry, C; Gyapay, G; Noam, I; ... Guicheney, P; + view all (1995) Readjusting the localization of merosin (laminin alpha 2-chain) deficient congenital muscular dystrophy locus on chromosome 6q2. CR ACAD SCI III-VIE , 318 (12) 1245 - 1252.

Heywood, W; Mills, KA; Carreno, G; Mills, PB; Worthington, V; Clayton, PT; ... Grunewald, S; + view all (2011) IDENTIFICATION OF C1INHIBITOR AS A POTENTIAL BIOMARKER FOR N- AND O-LINKED CONGENITAL DISORDERS OF GLYCOSYLATION (CDG). JOURNAL OF INHERITED METABOLIC DISEASE , 34 S182 - S182.

Hicks, D; Lampe, AK; Laval, SH; Allamand, V; Jimenez-Mallebrera, C; Walter, MC; ... Bushby, KMD; + view all (2009) Cyclosporine A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescue. BRAIN , 132 147 - 155. 10.1093/brain/awn289.

Howman, EV; Poon, E; Newey, SE; Torelli, S; Brown, S; Hilton-Jones, D; ... Davies, KE; + view all (2001) Syncoilin expression in neuromuscular disorders. AM J HUM GENET , 69 (4) 638 - 638.

Hu, TM; Gabriel, CM; Manzur, AY; King, RH; Muntoni, F; (2004) "A faint in the emergency department (due to primary systemic amyloidosis neuropathy).". Practical Neurology , 4 104 - 109.

Illingworth, MA; Main, M; Pitt, M; Feng, L; Sewry, CA; Gunny, R; ... Robb, SA; + view all (2014) RYR1-related congenital myopathy with fatigable weakness, responding to pyridostigimine. Neuromuscul Disord 10.1016/j.nmd.2014.05.003.

Ip, P; Knight, R; Dokal, I; Manzur, AY; Muntoni, F; (2005) Peripheral neuropathy - a novel finding in dyskeratosis congenita. EUR J PAEDIATR NEURO , 9 (2) 85 - 89. 10.1016/j.ejpn.2005.01.007.

Jaffer, F; Murphy, SM; Scoto, M; Healy, E; Rossor, AM; Brandner, S; ... Reilly, MM; + view all (2012) BAG3 mutations: another cause of giant axonal neuropathy. J Peripher Nerv Syst , 17 (2) 210 - 216. 10.1111/j.1529-8027.2012.00409.x.

Jaffer, F; Reilly, MM; Quinlivan, R; Muntoni, F; Turner, C; Parton, M; ... Hanna, MG; + view all (2013) Emergency neuromuscular admissions are avoidable: a regional audit of unplanned hospital admissions of neuromuscular patients 2009-2011: final results and recommendations. J Neurol Neurosurg Psychiatry , 84 (11) e2 - ?. 10.1136/jnnp-2013-306573.7.

Jain, RK; Jayawant, S; Squier, W; Muntoni, F; Sewry, CA; Manzur, A; ... Laing, NG; + view all (2012) Nemaline myopathy with stiffness and hypertonia associated with an ACTA1 mutation. Neurology , 78 (14) 1100 - 1103. 10.1212/WNL.0b013e31824e8ebe.

James, PA; Cader, MZ; Muntoni, F; Childs, AM; Crow, YJ; Talbot, K; (2006) Severe childhood SMA and axonal CMT due to anticodon binding domain mutations in the GARS gene. NEUROLOGY , 67 (9) 1710 - 1712.

Jephson, CG; Mills, NA; Pitt, MC; Beeson, D; Aloysius, A; Muntoni, F; ... Bailey, CM; + view all (2010) Congenital stridor with feeding difficulty as a presenting symptom of Dok7 congenital myasthenic syndrome. INT J PEDIATR OTORHI , 74 (9) 991 - 994. 10.1016/j.ijporl.2010.05.022.

Jimenez-Mallebrera, C; Brown, SC; Sewry, CA; Muntoni, F; (2005) Congenital muscular dystrophy: molecular and cellular aspects. CELL MOL LIFE SCI , 62 (7-8) 809 - 823. 10.1007/s00018-004-4510-4.

Jimenez-Mallebrera, C; Maioli, MA; Kim, J; Brown, SC; Feng, L; Lampe, AK; ... Muntoni, F; + view all (2006) A comparative analysis of collagen VI production in muscle, skin and fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL6A mutations. NEUROMUSCULAR DISORD , 16 (9-10) 571 - 582. 10.1016/j.nmd.2006.07.015.

Jimenez-Mallebrera, C; Torelli, S; Brown, SC; Feng, L; Brockington, M; Sewry, CA; ... Muntoni, F; + view all (2003) Profound skeletal muscle depletion of alpha-dystroglycan in Walker-Warburg syndrome. EUR J PAEDIATR NEURO , 7 (3) 129 - 137. 10.1016/S1090-3798(03)00042-4.

Jimenez-Mallebrera, C; Torelli, S; Feng, L; Kim, J; Godfrey, C; Clement, E; ... Muntoni, F; + view all (2009) A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severity. Brain Pathol , 19 (4) 596 - 611. 10.1111/j.1750-3639.2008.00198.x. Gold open access

Jimenez-Mallebrera, C; Torelli, S; Feng, L; Kim, J; Godfrey, C; Clement, E; ... Muntoni, F; + view all (2009) A comparative study of alpha-dystroglycan glycosylation in. Brain Pathol , 19 (4) 596 - 611.

Jimenez-Mallebrera, C; Torelli, S; Feng, L; Kim, J; Godfrey, C; Clement, E; ... Muntoni, F; + view all (2009) A Comparative Study of alpha-Dystroglycan Glycosylation in Dystroglycanopathies Suggests that the Hypoglycosylation of alpha-Dystroglycan Does Not Consistently Correlate with Clinical Severity. BRAIN PATHOL , 19 (4) 596 - 611. 10.1111/j.1750-3639.2008.00198.x.

Jin, H; Gardner, RJ; Viswesvaraiah, R; Muntoni, F; Roberts, RG; (2000) Two novel members of the interleukin-1 receptor gene family, one deleted in Xp22.1-Xp21.3 mental retardation. EUR J HUM GENET , 8 (2) 87 - 94.

Johnson, JO; Gibbs, JR; Megarbane, A; Urtizberea, JA; Hernandez, DG; Foley, AR; ... Singleton, AB; + view all (2012) Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease. Brain , 135 (Pt 9) 2875 - 2882. 10.1093/brain/aws161.

Jonuschies, J; Antoniou, M; Waddington, S; Boldrin, L; Muntoni, F; Thrasher, A; Morgan, J; (2014) The Human Desmin Promoter Drives Robust Gene Expression for Skeletal Muscle Stem Cell-Mediated Gene Therapy. Curr Gene Ther

Jonuschies, J; Boldrin, L; Thrasher, A; Morgan, JE; Muntoni, F; (2011) Assessment of potential promoters for lentiviral gene therapy in DMD. HUM GENE THER , 22 (10) A5 - A5.

Jonuschies, J; Boldrin, L; Thrasher, A; Morgan, JE; Muntoni, F; (2011) Assessment of potential promoters for lentiviral gene therapy in DMD. HUM GENE THER , 22 (10) A62 - A63.

Jungbluth, H; Beggs, A; Bönnemann, C; Bushby, K; Ceuterick-de Groote, C; Estournet-Mathiaud, B; ... Ferreiro, A; + view all (2004) 111th ENMC International Workshop on Multi-minicore Disease. 2nd International MmD Workshop, 9-11 November 2002, Naarden, The Netherlands. Neuromuscul Disord , 14 (11) 754 - 766. 10.1016/j.nmd.2004.07.007.

Jungbluth, H; Cullup, T; Lillis, S; Zhou, HY; Abbs, S; Sewry, C; Muntoni, F; (2010) Centronuclear myopathy with cataracts due to a novel dynamin 2 (DNM2) mutation. NEUROMUSCULAR DISORD , 20 (1) 49 - 52. 10.1016/j.nmd.2009.10.005.

Jungbluth, H; Davis, MR; Muller, C; Counsell, S; Allsop, J; Chattopadhyay, A; ... Muntoni, F; + view all (2004) Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations. NEUROMUSCULAR DISORD , 14 (12) 785 - 790. 10.1016/j.nmd.2004.08.006.

Jungbluth, H; Dowling, JJ; Ferreiro, A; Muntoni, F; (2012) 182nd ENMC International Workshop: RYR1-related myopathies, 15-17th April 2011, Naarden, The Netherlands. Neuromuscul Disord , 22 (5) 453 - 462. 10.1016/j.nmd.2011.12.003.

Jungbluth, H; Lillis, S; Zhou, H; Abbs, S; Sewry, C; Swash, M; Muntoni, F; (2009) Late-onset axial myopathy with cores due to a novel heterozygous dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene. NEUROMUSCULAR DISORD , 19 (5) 344 - 347. 10.1016/j.nmd.2009.02.005.

Jungbluth, H; Manzur, AY; Bydder, G; Muntoni, F; (2000) Generalized calcification in a case of dermatomyositis. NEUROMUSCULAR DISORD , 10 (2) 150 - 150.

Jungbluth, H; Muller, CR; Halliger-Keller, B; Brockington, M; Brown, SC; Feng, L; ... Muntoni, F; + view all (2002) Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores. NEUROLOGY , 59 (2) 284 - 287.

Jungbluth, H; Muntoni, F; Ferreiro, A; Core Myopathy Consortium,; (2008) 150th ENMC International Workshop: Core Myopathies, 9-11th March 2007, Naarden, The Netherlands. Neuromuscul Disord , 18 (12) 989 - 996. 10.1016/j.nmd.2008.08.001.

Jungbluth, H; Rees, MI; Manzur, AY; Mercuri, E; Sewry, CA; Gobbi, P; Muntoni, F; (2000) An unusual case of hyperekplexia. Eur J Paediatr Neurol , 4 (2) 77 - 80. 10.1053/ejpn.1999.0267.

Jungbluth, H; Sewry, C; Brown, SC; Manzur, AY; Mercuri, E; Bushby, K; ... Muntoni, F; + view all (2000) Minicore myopathy in children: a clinical and histopathological study of 19 cases. NEUROMUSCULAR DISORD , 10 (4-5) 264 - 273.

Jungbluth, H; Sewry, CA; Brown, SC; Nowak, KJ; Laing, NG; Wallgren-Pettersson, C; ... Muntoni, F; + view all (2001) Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1) gene. NEUROMUSCULAR DISORD , 11 (1) 35 - 40.

Jungbluth, H; Sewry, CA; Buj-Bello, A; Kristiansen, M; Orstavik, KH; Kelsey, A; ... Muntoni, F; + view all (2003) Early and severe presentation of X-linked myotubular myopathy in a girl with skewed X-inactivation. NEUROMUSCULAR DISORD , 13 (1) 55 - 59.

Jungbluth, H; Sewry, CA; Counsell, S; Allsop, J; Chattopadhyay, A; Mercuri, E; ... Muntoni, F; + view all (2004) Magnetic resonance imaging of muscle in nemaline myopathy. NEUROMUSCULAR DISORD , 14 (12) 779 - 784. 10.1016/j.nmd.2004.08.005.

Jungbluth, H; Sewry, CA; Muntoni, F; (2011) Core myopathies. Semin Pediatr Neurol , 18 (4) 239 - 249. 10.1016/j.spen.2011.10.005.

Jungbluth, H; Sewry, CA; Muntoni, F; (2003) What's new in neuromuscular disorders? The congenital myopathies. EUR J PAEDIATR NEURO , 7 (1) 23 - 30. 10.1016/S1090-3798(02)00136-8.

Jungbluth, H; Sewry, CA; Squier, W; Newsom-Davies, J; Buj-Bello, A; Mercuri, E; ... Muntoni, F; + view all (2001) Abnormal neuromuscular transmission in a case of myotubular (centronuclear) myopathy. NEUROMUSCULAR DISORD , 11 (6-7) 625 - 625.

Jungbluth, H; Zhou, H; Bertini, E; Straub, V; Bushby, K; Robb, S; ... Muntoni, F; + view all (2006) Autosomal centronuclear myopathy due to mutations in the skeletal muscle ryanodine receptor gene. DEV MED CHILD NEUROL , 48 30 - 31.

Jungbluth, H; Zhou, H; Hartley, L; Halliger-Keller, B; Messina, S; Longman, C; ... Muntoni, F; + view all (2005) Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene. NEUROLOGY , 65 (12) 1930 - 1935.

Jungbluth, H; Zhou, H; Sewry, CA; Robb, S; Treves, S; Bitoun, M; ... Muntoni, F; + view all (2007) Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene. NEUROMUSCULAR DISORD , 17 (4) 338 - 345. 10.1016/j.nmd.2007.01.016.

Jungbluth, H; Zhou, H; Treves, S; Sewry, C; Muntoni, F; (2006) Expanding range of phenotypes associated with mutations in the skeletal muscle ryanodine receptor gene. DEV MED CHILD NEUROL , 48 7 - 8.

Kaufmann, P; Muntoni, F; International Coordinating Committee for SMA Subcommittee on SMA Clinical Trial Design,; (2007) Issues in SMA clinical trial design. The International Coordinating Committee (ICC) for SMA Subcommittee on SMA Clinical Trial Design. Neuromuscul Disord , 17 (6) 499 - 505. 10.1016/j.nmd.2006.12.001.

Kaye, J; Hurles, M; Griffin, H; Grewal, J; Bobrow, M; Timpson, N; ... Spector, T; + view all (2014) Managing clinically significant findings in research: the UK10K example. Eur J Hum Genet 10.1038/ejhg.2013.290.

Kim, J; Jimenez-Mallebrera, C; Foley, AR; Fernandez-Fuente, M; Brown, SC; Torelli, S; ... Muntoni, F; + view all (2012) Flow cytometry analysis: a quantitative method for collagen VI deficiency screening. Neuromuscular Disorders , 22 (2) 139 - 148. 10.1016/j.nmd.2011.08.006. Green and gold open access
file

Kinali, M; Arechavala-Gomeza, V; Cirak, S; Glover, A; Guglieri, M; Feng, L; ... Muntoni, F; + view all (2011) Muscle histology vs MRI in Duchenne muscular dystrophy. NEUROLOGY , 76 (4) 346 - 353.

Kinali, M; Arechavala-Gomeza, V; Feng, L; Cirak, S; Hunt, D; Adkin, C; ... Muntoni, F; + view all (2009) Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study. LANCET NEUROL , 8 (10) 918 - 928. 10.1016/S1474-4422(09)70211-X. Gold open access

Kinali, M; Banks, LM; Mercuri, E; Manzur, AY; Muntoni, F; (2004) Bone mineral density in a paediatric spinal muscular atrophy population. NEUROPEDIATRICS , 35 (6) 325 - 328. 10.1055/s-2004-830366.

Kinali, M; Beeson, D; Pitt, MC; Jungbluth, H; Simonds, AK; Aloysius, A; ... Robb, SA; + view all (2008) Congenital Myasthenic Syndromes in childhood: Diagnostic and management challenges. J NEUROIMMUNOL , 201 6 - 12. 10.1016/j.jneuroim.2008.06.026.

Kinali, M; Jungbluth, H; Eunson, LH; Sewry, CA; Manzur, AY; Mercuri, E; ... Muntoni, F; + view all (2004) Expanding the phenotype of potassium channelopathy: severe neuromyotonia and skeletal deformities without prominent Episodic Ataxia. NEUROMUSCULAR DISORD , 14 (10) 689 - 693. 10.1016/j.nmd.2004.06.007.

Kinali, M; Knight, RK; Main, M; Mercuri, E; Messina, S; Manzur, AY; Muntoni, F; (2006) Predictive factors for the development of scoliosis in Duchenne Muscular Dystrophy. DEV MED CHILD NEUROL , 48 4 - 5.

Kinali, M; Koutroulis, G; Dawson, D; Nihoyannopoulos, P; Muntoni, F; (2001) Detection of early cardiac involvement in Duchenne muscular dystrophy using Tissue Doppler Imaging. NEUROMUSCULAR DISORD , 11 (6-7) 639 - 639.

Kinali, M; Main, M; Eliahoo, J; Messina, S; Knight, RK; Lehousky, J; ... Muntoni, F; + view all (2007) Predictive factors for the development of scoliosis in Duchenne muscular dystrophy. EUR J PAEDIATR NEURO , 11 (3) 160 - 166. 10.1016/j.ejpn.2006.12.002.

Kinali, M; Manzur, AY; Mercuri, E; Gibson, BE; Hartley, L; Simonds, AK; Muntoni, F; (2006) UK physicians' attitudes and practices in long-term non-invasive ventilation of Duchenne Muscular Dystrophy. Pediatr Rehabil , 9 (4) 351 - 364.

Kinali, M; Mercuri, E; Main, M; Banks, L; Higgins, R; Manzur, A; Muntoni, F; (2001) Pilot trial of salbutamol in spinal muscular atrophy. NEUROMUSCULAR DISORD , 11 (6-7) 645 - 646.

Kinali, M; Mercuri, E; Main, M; De Biasia, F; Karatza, A; Higgins, R; ... Muntoni, F; + view all (2002) Pilot trial of albuterol in spinal muscular atrophy. NEUROLOGY , 59 (4) 609 - 610.

Kinali, M; Mercuri, E; Main, M; Muntoni, F; Dubowitz, V; (2002) An effective, low-dosage, intermittent schedule of prednisolone in the long-term treatment of early cases of Duchenne dystrophy. NEUROMUSCULAR DISORDERS , 12 S169 - S174.

Kinali, M; Messina, S; Mercuri, E; Lehovsky, J; Edge, G; Manzur, AY; Muntoni, F; (2006) Management of scoliosis in Duchenne muscular dystrophy. a large 10-year retrospective study. DEV MED CHILD NEUROL , 48 (6) 513 - 518. 10.1017/S0012162206001083.

Kinali, M; Olpin, SE; Clayton, PT; Daubeney, PEF; Mercuri, E; Manzur, AY; ... Muntoni, F; + view all (2004) Diagnostic difficulties in a case of primary systemic carnitine deficiency with idiopathic dilated cardiomyopathy. EUR J PAEDIATR NEURO , 8 (4) 217 - 219. 10.1016/j.ejpn.2004.03.007.

Kirschner, J; Hausser, I; Zou, YQ; Schreiber, G; Christen, HJ; Brown, SC; ... Bonnemann, CG; + view all (2005) Ullrich congenital muscular dystrophy: Connective tissue abnormalities in the skin support overlap with Ehlers-Danlos syndromes. AMERICAN JOURNAL OF MEDICAL GENETICS PART A , 132A (3) 296 - 301. 10.1002/ajmg.a.30443.

Klein, A; Clement, E; Mercuri, E; Muntoni, F; (2008) Differential diagnosis of congenital muscular dystrophies. EUR J PAEDIATR NEURO , 12 (5) 371 - 377. 10.1016/j.ejpn.2007.10.002.

Klein, A; Jungbluth, H; Clement, E; Lillis, S; Abbs, S; Munot, P; ... Muntoni, F; + view all (2011) Muscle Magnetic Resonance Imaging in Congenital Myopathies Due to Ryanodine Receptor Type 1 Gene Mutations. ARCH NEUROL-CHICAGO , 68 (9) 1171 - 1179.

Klein, A; Lillis, S; Munteanu, I; Scoto, M; Zhou, H; Quinlivan, R; ... Muntoni, F; + view all (2012) Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene associated myopathies (vol 33, pg 981, 2012). HUMAN MUTATION , 33 (8) 1310 - 1310. 10.1002/humu.22136.

Klein, A; Lillis, S; Munteanu, I; Scoto, M; Zhou, H; Quinlivan, R; ... Muntoni, F; + view all (2012) Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies. Hum Mutat , 33 (6) 981 - 988. 10.1002/humu.22056.

Klein, A; Pitt, MC; McHugh, JC; Niks, EH; Sewry, CA; Phadke, R; ... Robb, SA; + view all (2013) DOK7 congenital myasthenic syndrome in childhood: Early diagnostic clues in 23 children. Neuromuscul Disord 10.1016/j.nmd.2013.06.002.

Knight, R; Wilson, B; Davis, T; Muntoni, F; (2006) Ulna length in children with neuromuscular disorders: correlation with height and forced vital capacity. DEV MED CHILD NEUROL , 48 28 - 29.

Koutroulis, G; Kinali, M; Dawson, D; Giatrakos, N; Muntoni, F; Nihoyannapoulos, P; (2002) Evaluation of myocardial involvement in Duchenne dystrophy detected with tissue Doppler derived myocardial velocity gradients. J AM COLL CARDIOL , 39 (5) 182A - 182A.

Koutroulis, G; Kinali, M; Dawson, D; Muntoni, F; Nihoyannopoulos, P; (2001) Detection of early myocardial involvement in Duchenne muscular Dystrophy using tissue Doppler derived myocardial velocity gradients. EUR HEART J , 22 594 - 594.

Koutroulis, G; Kinali, M; Dawson, D; Muntoni, F; Nihoyannopoulos, P; (2001) Evaluation of left ventricular relaxation in patients affected with Duchenne muscular dystrophy using tissue Doppler imaging. EUR HEART J , 22 412 - 412.

Kristiansen, M; Knudsen, GP; Tanner, SM; McEntagart, M; Jungbluth, H; Muntoni, F; ... Wallgren-Pettersson, C; + view all (2003) X-inactivation patterns in carriers of X-linked myotubular myopathy. NEUROMUSCULAR DISORD , 13 (6) 468 - 471. 10.1016/S0960-8966(03)00067-1.

Kroos, M; Manta, P; Mavridou, I; Muntoni, F; Halley, D; Van Der Helm, R; ... Michelakakis, H; + view all (2006) Seven cases of Pompe disease from Greece. J INHERIT METAB DIS , 29 (4) 556 - 563. 10.1007/s10545-006-0280-5.

Kurian, MA; Hartley, L; Zolkipli, Z; Little, MA; Costigan, D; Naughten, ER; ... King, MD; + view all (2004) Short-chain acyl-CoA dehydrogenase deficiency associated with early onset severe axonal neuropathy. NEUROPEDIATRICS , 35 (5) 312 - 316. 10.1055/s-2004-830371.

Lagae, L; Muntoni, F; (1998) The Second Congress of the European Paediatric Neurology Society: Maastricht 8-11 October 1997. Eur J Paediatr Neurol , 2 (1) 61 - 64.

Laing, N; Knowak, K; Durling, H; North, K; Nonaka, I; Hutchinson, D; ... Wallgren-Pettersson, C; + view all (2000) Actin and nemaline-related myopathy. BRAIN PATHOL , 10 (4) 595 - 595.

Lamhonwah, AM; Onizuka, R; Olpin, SE; Muntoni, F; Tein, I; (2004) OCTN2 mutation (R254X) found in Saudi Arabian kindred: Recurrent mutation or ancient founder mutation? J INHERIT METAB DIS , 27 (4) 473 - 476.

Lampe, AK; Dunn, DM; von Niederhausern, AC; Hamil, C; Aoyagi, A; Laval, SH; ... Weiss, RB; + view all (2005) Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy. J MED GENET , 42 (2) 108 - 120. 10.1136/jmg.2004.023754.

Lampe, AK; Zou, Y; Sudano, D; O'Brien, KK; Hicks, D; Laval, SH; ... Bonnemann, CG; + view all (2008) Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance. HUM MUTAT , 29 (6) 809 - 822. 10.1002/humu.20704.

Lattanzi, G; Muntoni, F; Sabatelli, P; Squarzoni, S; Maraldi, NM; Cenni, V; ... Marmiroli, S; + view all (2000) Unusual laminin alpha 2 processing in myoblasts from a patient with a novel variant of congenital muscular dystrophy. BIOCHEM BIOPH RES CO , 277 (3) 639 - 642.

Løseth, S; Voermans, NC; Torbergsen, T; Lillis, S; Jonsrud, C; Lindal, S; ... Jungbluth, H; + view all (2013) A novel late-onset axial myopathy associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene. J Neurol , 260 (6) 1504 - 1510. 10.1007/s00415-012-6817-7.

Lehtokari, VL; Pelin, K; Sandbacka, M; Ranta, S; Donner, K; Muntoni, F; ... Wallgren-Pettersson, C; + view all (2006) Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive Nemaline myopathy. HUM MUTAT , 27 (9) 946 - 956. 10.1002/humu.20370.

Lillis, S; Abbs, S; Ferreiro, A; Muntoni, F; Jungbluth, H; (2012) Clinical utility gene card for: Multi-minicore disease. Eur J Hum Genet , 20 (2) 10.1038/ejhg.2011.180.

Lillis, S; Abbs, S; Mueller, CR; Muntoni, F; Jungbluth, H; (2012) Clinical utility gene card for: Central core disease. Eur J Hum Genet , 20 (2) 10.1038/ejhg.2011.179.

Lin, YY; White, RJ; Torelli, S; Cirak, S; Muntoni, F; Stemple, DL; (2011) Zebrafish Fukutin family proteins link the unfolded protein response with dystroglycanopathies. HUM MOL GENET , 20 (9) 1763 - 1775. 10.1093/hmg/ddr059.

Lodi, R; Kemp, GJ; Muntoni, F; Thompson, CH; Rae, C; Taylor, J; ... Taylor, DJ; + view all (1999) Reduced cytosolic acidification during exercise suggests defective glycolytic activity in skeletal muscle of patients with Becker muscular dystrophy - An in vivo P-31 magnetic resonance spectroscopy study. BRAIN , 122 121 - 130.

Lodi, R; Muntoni, F; Taylor, J; Kumar, S; Sewry, CA; Blamire, A; ... Taylor, DJ; + view all (1997) Correlative MR imaging and P-31-MR spectroscopy study in sarcoglycan deficient limb girdle muscular dystrophy. NEUROMUSCULAR DISORD , 7 (8) 505 - 511.

Logan, CV; Lucke, B; Pottinger, C; Abdelhamed, ZA; Parry, DA; Szymanska, K; ... Johnson, CA; + view all (2011) Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD). Nat Genet , 43 (12) 1189 - 1192. 10.1038/ng.995.

Logan, CV; Sharpe, JA; De Stefani, D; Raffaello, A; Rizzuto, R; Duchen, MR; ... Szabadkai, G; + view all (2014) Genetic defects in mitochondrial calcium handling cause neuromuscular disease. EUROPEAN JOURNAL OF CLINICAL INVESTIGATION , 44 47 - 47.

Logan, CV; Szabadkai, G; Sharpe, JA; Parry, DA; Torelli, S; Childs, AM; ... Sheridan, E; + view all (2013) Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling. Nat Genet 10.1038/ng.2851.

Longman, C; Brockington, M; Torelli, S; Jimenez-Mallebrera, C; Kennedy, C; Khalil, N; ... Muntoni, F; + view all (2003) Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan. HUM MOL GENET , 12 (21) 2853 - 2861. 10.1093/hmg/ddg307.

Longman, C; Mercuri, E; Cowan, F; Allsop, J; Brockington, M; Jimenez-Mallebrera, C; ... Muntoni, F; + view all (2004) Antenatal and postnatal brain magnetic resonance imaging in muscle-eye-brain disease. ARCH NEUROL-CHICAGO , 61 (8) 1301 - 1306.

Longman, C; Sewry, CA; Muntoni, F; (2004) Muscle involvement in the cerebro-oculo-facio-skeletal syndrome. PEDIATR NEUROL , 30 (2) 125 - 128. 10.1016/S0887-8994(03)00415-6.

Lu, QL; Yokota, T; Takeda, S; Garcia, L; Muntoni, F; Partridge, T; (2011) The Status of Exon Skipping as a Therapeutic Approach to Duchenne Muscular Dystrophy. MOL THER , 19 (1) 9 - 15. 10.1038/mt.2010.219.

Lucarini, L; Giusti, B; Zhang, RZ; Pan, TC; Jimenez-Mallebrera, C; Mercuri, E; ... Chu, ML; + view all (2005) A homozygous COL6A2 intron mutation causes in-frame triple-helical deletion and nonsense-mediated mRNA decay in a patient with Ullrich congenital muscular dystrophy. HUM GENET , 117 (5) 460 - 466. 10.1007/s00439-005-1318-8.

Lucioli, S; Giusti, B; Mercuri, E; Vanegas, OC; Lucarini, L; Pietroni, V; ... Pepe, G; + view all (2005) Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy. NEUROLOGY , 64 (11) 1931 - 1937.

Lynn, S; Aartsma-Rus, A; Bushby, K; Furlong, P; Goemans, N; De Luca, A; ... Straub, V; + view all (2014) Measuring clinical effectiveness of medicinal products for the treatment of Duchenne muscular dystrophy. Neuromuscul Disord 10.1016/j.nmd.2014.09.003.

Maggi, L; Scoto, M; Cirak, S; Robb, SA; Klein, A; Lillis, S; ... Muntoni, F; + view all (2013) Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom. Neuromuscul Disord , 23 (3) 195 - 205. 10.1016/j.nmd.2013.01.004.

Mahjneh, I; Bushby, K; Anderson, L; Muntoni, F; Tolvanen-Mahjneh, H; Bashir, R; ... Marconi, G; + view all (1999) Merosin-positive congenital muscular dystrophy: A large inbred family. NEUROPEDIATRICS , 30 (1) 22 - 28.

Mahjneh, I; Lochmüller, H; Muntoni, F; Abicht, A; (2013) DOK7 limb-girdle myasthenic syndrome mimicking congenital muscular dystrophy. Neuromuscul Disord , 23 (1) 36 - 42. 10.1016/j.nmd.2012.06.355.

Main, M; Kairon, H; Mercuri, E; Muntoni, F; (2003) The Hammersmith functional motor scale for children with spinal muscular atrophy: a scale to test ability and monitor progress in children with limited ambulation. EUR J PAEDIATR NEURO , 7 (4) 155 - 159. 10.1016/S1090-3798(03)00060-6.

Main, M; Kairon, H; Mercuri, E; Muntoni, F; (2001) The Hammersmith functional motor scale for children with spinal muscular atrophy. NEUROMUSCULAR DISORD , 11 (6-7) 646 - 646.

Main, M; Kinali, M; Haliloglu, G; Mercuri, E; Baker, R; Muntoni, F; (2006) Serial casting of the ankles in Duchenne muscular dystrophy: an alternative to surgery? DEV MED CHILD NEUROL , 48 5 - 5.

Main, M; Mercuri, E; Haliloglu, G; Baker, R; Kinali, M; Muntoni, F; (2007) Serial casting of the ankles in Duchenne muscular dystrophy: can it be an alternative to surgery? NEUROMUSCULAR DISORD , 17 (3) 227 - 230. 10.1016/j.nmd.2006.12.002.

Majumdar, A; Hartley, L; Manzur, AY; King, RHM; Orrell, RW; Muntoni, F; (2004) A case of severe congenital chronic inflammatory demyelinating polyneuropathy with complete spontaneous remission. NEUROMUSCULAR DISORD , 14 (12) 818 - 821. 10.1016/j.nmd.2004.09.003.

Malerba, A; Sharp, PS; Graham, IR; Arechavala-Gomeza, V; Foster, K; Muntoni, F; ... Dickson, G; + view all (2011) Chronic Systemic Therapy With Low-dose Morpholino Oligomers Ameliorates the Pathology and Normalizes Locomotor Behavior in mdx Mice. MOL THER , 19 (2) 345 - 354. 10.1038/mt.2010.261.

Mamchaoui, K; Trollet, C; Bigot, A; Negroni, E; Chaouch, S; Wolff, A; ... Mouly, V; + view all (2011) Immortalized pathological human myoblasts: towards a universal tool for the study of neuromuscular disorders. Skelet Muscle , 1 34 - ?. 10.1186/2044-5040-1-34. Gold open access

Manilal, S; Recan, D; Sewry, CA; Hoeltzenbein, M; Llense, S; Leturcq, F; ... Morris, GE; + view all (1998) Mutations in Emery-Dreifuss muscular dystrophy and their effects on emerin protein expression. HUM MOL GENET , 7 (5) 855 - 864.

Manilal, S; Sewry, CA; Man, NT; Muntoni, F; Morris, GE; (1997) Diagnosis of X-linked Emery-Dreifuss muscular dystrophy by protein analysis of leucocytes and skin with monoclonal antibodies. NEUROMUSCULAR DISORD , 7 (1) 63 - 66.

Manzati, E; Bigoni, S; Gualandi, F; Scapoli, C; Guarna, M; Pini, G; ... Ferlini, A; + view all (1999) Genetic and transcription analysis in Rett syndrome. AM J HUM GENET , 65 (4) A478 - A478.

Manzur, AY; Kinali, M; Muntoni, F; (2008) Update on the management of Duchenne muscular dystrophy. ARCH DIS CHILD , 93 (11) 986 - 990. 10.1136/adc.2007.118141.

Manzur, AY; Muntoni, F; (2009) Diagnosis and new treatments in muscular dystrophies. POSTGRAD MED J , 85 (1009) 622 - 630. 10.1136/jnnp.2008.158329.

Manzur, AY; Muntoni, F; (2009) Diagnosis and new treatments in muscular dystrophies. J NEUROL NEUROSUR PS , 80 (7) 706 - 714. 10.1136/jnnp.2008.158329.

Manzur, AY; Muntoni, F; Simonds, A; (2003) Muscular dystrophy campaign sponsored workshop: recommendation for respiratory care of children with spinal muscular atrophy type II and III. 13th February 2002, London, UK. Neuromuscul Disord , 13 (2) 184 - 189.

Manzur, AY; Sewry, CA; Ziprin, J; Dubowitz, V; Muntoni, F; (1998) A severe clinical and pathological variant of central core disease with possible autosomal recessive inheritance. NEUROMUSCULAR DISORD , 8 (7) 467 - 473.

MARROSU, MG; MAZZOLENI, AP; GALANTUOMO, S; MELIS, A; MUNTONI, F; LAI, E; (1992) POLYMERASE CHAIN-REACTION ANALYSIS FOR SPECIFIC HTLV-1 SEQUENCES FROM CEREBROSPINAL-FLUID AND PERIPHERAL-BLOOD CELLS IN SARDINIAN MULTIPLE-SCLEROSIS PATIENTS. EUR NEUROL , 32 (4) 195 - 198.

MARROSU, MG; MUNTONI, F; MURRU, MR; COSTA, G; CONGIA, M; MARROSU, G; ... CIANCHETTI, C; + view all (1993) ROLE OF PREDISPOSING AND PROTECTIVE HLA-DQA AND HLA-DQB ALLELES IN SARDINIAN MULTIPLE-SCLEROSIS. ARCH NEUROL-CHICAGO , 50 (3) 256 - 260.

Marrosu, MG; Muntoni, F; Murru, MR; Costa, G; Pischedda, MP; Pirastu, M; ... Cianchetti, C; + view all (1992) HLA-DQB1 genotype in Sardinian multiple sclerosis: evidence for a key role of DQB1 *0201 and *0302 alleles. Neurology , 42 (4) 883 - 886.

MARROSU, MG; MUNTONI, F; MURRU, MR; COSTA, G; PISCHEDDA, MP; PIRASTU, M; ... CIANCHETTI, C; + view all (1992) HLA-DQB1 GENOTYPE IN SARDINIAN MULTIPLE-SCLEROSIS - EVIDENCE FOR A KEY ROLE OF DQB1 ASTERISK-0201 AND ASTERISK-0302 ALLELES. NEUROLOGY , 42 (4) 883 - 886.

MARROSU, MG; MUNTONI, F; MURRU, MR; SPINICCI, G; PISCHEDDA, MP; GODDI, F; ... PIRASTU, M; + view all (1988) SARDINIAN MULTIPLE-SCLEROSIS IS ASSOCIATED WITH HLA-DR4 - A SEROLOGIC AND MOLECULAR ANALYSIS. NEUROLOGY , 38 (11) 1749 - 1753.

Marrosu, MG; Murru, MR; Costa, G; Cucca, F; Sotgiu, S; Rosati, G; Muntoni, F; (1997) Multiple Sclerosis in sardinia is associated and in linkage disequilibrium with HLA-DR3 and -DR4 alleles. AM J HUM GENET , 61 (2) 454 - 457.

Marrosu, MG; Murru, MR; Costa, G; Murru, R; Muntoni, F; Cucca, F; (1998) DRB1-DQA1-DQB1 loci and multiple sclerosis predisposition in the Sardinian population. HUM MOL GENET , 7 (8) 1235 - 1237.

Marrosu, MG; Vaccargiu, S; Marrosu, G; Vannelli, A; Cianchetti, C; Muntoni, F; (1999) Charcot-Marie-Tooth disease type 2 and P0 gene mutations - Reply. NEUROLOGY , 52 (5) 1111 - 1111.

Marrosu, MG; Vaccargiu, S; Marrosu, G; Vannelli, A; Cianchetti, C; Muntoni, F; (1998) Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene. NEUROLOGY , 50 (5) 1397 - 1401.

Marrosu, MG; Vaccargiu, S; Marrosu, G; Vannelli, A; Cianchetti, C; Muntoni, F; (1997) A novel point mutation in the peripheral myelin protein 22 (PMP22) gene associated with Charcot-Marie-Tooth disease type 1A. NEUROLOGY , 48 (2) 489 - 493.

Matthews, E; Manzur, AY; Sud, R; Muntoni, F; Hanna, MG; (2011) Stridor as a Neonatal Presentation of Skeletal Muscle Sodium Channelopathy. ARCH NEUROL-CHICAGO , 68 (1) 127 - 129.

Mayhew, A; Cano, S; Scott, E; Eagle, M; Bushby, K; Muntoni, F; N Star Clinical Network Paediat Ne,; (2011) Moving towards meaningful measurement: Rasch analysis of the North Star Ambulatory Assessment in Duchenne muscular dystrophy. DEV MED CHILD NEUROL , 53 (6) 535 - 542. 10.1111/j.1469-8749.2011.03939.x.

Mayhew, AG; Cano, SJ; Scott, E; Eagle, M; Bushby, K; Manzur, A; Muntoni, F; (2013) Detecting meaningful change using the North Star Ambulatory Assessment in Duchenne muscular dystrophy. Dev Med Child Neurol 10.1111/dmcn.12220.

Mazzone, E; Bianco, F; Main, M; van den Hauwe, M; Ash, M; de Vries, R; ... Mercuri, E; + view all (2013) Six minute walk test in type III spinal muscular atrophy: A 12month longitudinal study. Neuromuscul Disord 10.1016/j.nmd.2013.06.001.

Mazzone, E; Bianco, F; Martinelli, D; Glanzman, AM; Messina, S; De Sanctis, R; ... Mercuri, E; + view all (2011) Assessing upper limb function in nonambulant SMA patients: Development of a new module. NEUROMUSCULAR DISORD , 21 (6) 406 - 412. 10.1016/j.nmd.2011.02.014.

Mazzone, E; De Sanctis, R; Fanelli, L; Bianco, F; Main, M; van den Hauwe, M; ... Mercuri, E; + view all (2014) Hammersmith Functional Motor Scale and Motor Function Measure-20 in non ambulant SMA patients. Neuromuscul Disord 10.1016/j.nmd.2014.01.003.

McCormack, P; Woods, S; Aartsma-Rus, A; Hagger, L; Herczegfalvi, A; Heslop, E; ... Ferlini, A; + view all (2013) Guidance in social and ethical issues related to clinical, diagnostic care and novel therapies for hereditary neuromuscular rare diseases: "translating" the translational. PLoS Curr , 5 10.1371/currents.md.f90b49429fa814bd26c5b22b13d773ec. Green and gold open access
file

McDonald, DGM; Kinali, M; Gallagher, AC; Mercuri, E; Muntoni, F; Roper, H; ... Pike, MG; + view all (2002) Fracture prevalence in Duchenne muscular dystrophy. DEV MED CHILD NEUROL , 44 (10) 695 - 698.

McSweeney, N; Cowan, F; Manzur, A; Robb, S; Muntoni, F; (2009) Perinatal dyskinesia as a presenting feature in Prader Willi Syndrome. EUR J PAEDIATR NEURO , 13 (4) 350 - 355. 10.1016/j.ejpn.2008.07.001.

Meilleur, KG; Jain, MS; Hynan, LS; Shieh, CY; Kim, E; Waite, M; ... Bönnemann, CG; + view all (2014) Results of a two-year pilot study of clinical outcome measures in collagen VI-related myopathy and LAMA2-related muscular dystrophy. Neuromuscul Disord 10.1016/j.nmd.2014.09.010.

Melis, MA; Cau, M; Muntoni, F; Mateddu, A; Galanello, R; Boccone, L; ... Cao, A; + view all (1998) Elevation of serum creatine kinase as the only manifestation of an intragenic deletion of the dystrophin gene in three unrelated families. Eur J Paediatr Neurol , 2 (5) 255 - 261.

Melis, MA; Muntoni, F; Cau, M; Loi, D; Puddu, A; Boccone, L; ... Cao, A; + view all (1998) Novel nonsense mutation (C -> A nt 10512) in exon 72 of dystrophin gene leading to exon skipping in a patient with a mild dystrophinopathy. HUM MUTAT S137 - S138.

Meng, J; Adkin, CF; rechavala-Gomeza, V; Boldrin, L; Muntoni, F; Morgan, JE; (2009) The contribution of human synovial stem cells to skeletal. Neuromuscul Disord

Meng, J; Chun, S; Asfahani, R; Lochmueller, H; Muntoni, F; Morgan, J; (2014) Human Skeletal Muscle-derived CD133(+) Cells Form Functional Satellite Cells After Intramuscular Transplantation in Immunodeficient Host Mice. MOLECULAR THERAPY , 22 (5) 1008 - 1017. 10.1038/mt.2014.26.

Meng, JH; Adkin, CF; Arechavala-Gomeza, V; Boldrin, L; Muntoni, F; Morgan, JE; (2010) The contribution of human synovial stem cells to skeletal muscle regeneration. NEUROMUSCULAR DISORD , 20 (1) 6 - 15. 10.1016/j.nmd.2009.11.007.

Meng, JH; Adkin, CF; Xu, SW; Muntoni, F; Morgan, JE; (2011) Contribution of Human Muscle-Derived Cells to Skeletal Muscle Regeneration in Dystrophic Host Mice. PLOS ONE , 6 (3) , Article e17454. 10.1371/journal.pone.0017454. Green and gold open access
file

Meng, JH; Muntoni, F; Morgan, JE; (2011) Stem cells to treat muscular dystrophies - Where are we? NEUROMUSCULAR DISORD , 21 (1) 4 - 12. 10.1016/j.nmd.2010.10.004.

Mercuri, E; Anker, S; Philpot, J; Sewry, C; Dubowitz, V; Muntoni, F; (1998) Visual function in children with merosin-deficient and merosin-positive congenital muscular dystrophy. PEDIATR NEUROL , 18 (5) 399 - 401.

Mercuri, E; Brockington, M; Straub, V; Quijano-Roy, S; Yuva, Y; Herrmann, R; ... Muntoni, F; + view all (2003) Phenotypic spectrum associated with mutations in the fukutin-related protein gene. ANN NEUROL , 53 (4) 537 - 542. 10.1002/ana.10559.

Mercuri, E; Brown, SC; Nihoyannopoulos, P; Poulton, J; Kinali, M; Richard, P; ... Muntoni, F; + view all (2005) Extreme variability of skeletal and cardiac muscle involvement in patients with mutations in exon 11 of the lamin A/C gene. Muscle Nerve , 31 (5) 602 - 609.

Mercuri, E; Brown, SC; Nihoyannopoulos, P; Poulton, J; Kinali, M; Richard, P; ... Muntoni, F; + view all (2005) Extreme variability of skeletal and cardiac muscle involvement in patients with mutations in exon 11 of the lamin A/C gene. MUSCLE NERVE , 31 (5) 602 - 609. 10.1002/mus.20293.

Mercuri, E; Bushby, K; Ricci, E; Birchall, D; Pane, M; Kinali, M; ... Muntoni, F; + view all (2005) Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures. Neuromuscul Disord , 15 (2) 164 - 171. 10.1016/j.nmd.2004.10.008.

Mercuri, E; Cini, C; Counsell, S; Allsop, J; Zolkipli, Z; Jungbluth, H; ... Muntoni, F; + view all (2002) Muscle MRI findings in a three-generation family affected by Bethlem myopathy. Eur J Paediatr Neurol , 6 (6) 309 - 314.

Mercuri, E; Cini, C; Pichiecchio, A; Allsop, J; Counsell, S; Zolkipli, Z; ... Muntoni, F; + view all (2003) Muscle magnetic resonance imaging in patients with congenital muscular dystrophy and Ullrich phenotype. NEUROMUSCULAR DISORD , 13 (7-8) 554 - 558. 10.1016/S0960-8966(03)00091-9.

Mercuri, E; Clement, E; Offiah, A; Pichiecchio, A; Alsopp, J; Vasco, G; ... Muntoni, F; + view all (2009) Specificity and sensitivity of patterns of muscle MRI involvement in muscular dystrophies with rigidity of the spine. NEUROMUSCULAR DISORDERS , 19 (8-9) 627 - 628. 10.1016/j.nmd.2009.06.261.

Mercuri, E; Clements, E; Offiah, A; Pichiecchio, A; Vasco, G; Bianco, F; ... Muntoni, F; + view all (2010) Muscle Magnetic Resonance Imaging Involvement in Muscular Dystrophies with Rigidity of the Spine. ANN NEUROL , 67 (2) 201 - 208. 10.1002/ana.21846.

Mercuri, E; Counsell, S; Allsop, J; Jungbluth, H; Kinali, M; Bonne, G; ... Muntoni, F; + view all (2002) Selective muscle involvement on magnetic resonance imaging in autosomal dominant Emery-Dreifuss muscular dystrophy. NEUROPEDIATRICS , 33 (1) 10 - 14.

Mercuri, E; D'Amico, A; Tessa, A; Berardinelli, A; Pane, M; Messina, S; ... Santorelli, FM; + view all (2006) POMT2 mutation in a patient with 'MEB-like' phenotype. NEUROMUSCULAR DISORD , 16 (7) 446 - 448. 10.1016/j.nmd.2006.03.016.

MERCURI, E; DUBOWITZ, L; BERARDINELLI, A; PENNOCK, J; JONGMANS, M; HENDERSON, S; ... DUBOWITZ, V; + view all (1995) MINOR NEUROLOGICAL AND PERCEPTUOMOTOR DEFICITS IN CHILDREN WITH CONGENITAL MUSCULAR-DYSTROPHY - CORRELATION WITH BRAIN MRI CHANGES. NEUROPEDIATRICS , 26 (3) 156 - 162.

Mercuri, E; Goodwin, F; Sewry, C; Dubowitz, V; Muntoni, F; (2000) Diaphragmatic spinal muscular atrophy with bulbar weakness. Eur J Paediatr Neurol , 4 (2) 69 - 72. 10.1053/ejpn.1999.0265.

Mercuri, E; Gruter-Andrew, J; Philpot, J; Sewry, C; Counsell, S; Henderson, S; ... Muntoni, F; + view all (1999) Cognitive abilities in children with congenital muscular dystrophy: correlation with brain MRI and merosin status. NEUROMUSCULAR DISORD , 9 (6-7) 383 - 387.

Mercuri, E; Jungbluth, H; Muntoni, F; (2005) Muscle imaging in clinical practice: diagnostic value of muscle magnetic resonance imaging in inherited neuromuscular disorders. CURR OPIN NEUROL , 18 (5) 526 - 537.

Mercuri, E; Kinali, M; van der Poel, LA; Jungbluth, H; Brockington, M; Sewry, C; ... Muntoni, F; + view all (2001) Clinical and muscle MRI findings in congenital muscular dystrophy with distal laxity. NEUROMUSCULAR DISORD , 11 (6-7) 638 - 638.

Mercuri, E; Lampe, A; Allsop, J; Knight, R; Pane, M; Kinali, M; ... Muntoni, F; + view all (2005) Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy. NEUROMUSCULAR DISORD , 15 (4) 303 - 310. 10.1016/j.nmd.2005.01.004.

Mercuri, E; Lampe, A; Straub, V; Yuva, Y; Longman, C; Wright, M; ... Muntoni, F; + view all (2004) Congenital muscular dystrophy with short stature, proximal contractures and distal laxity. NEUROPEDIATRICS , 35 (4) 224 - 229. 10.1055/s-2004-821084.

Mercuri, E; Manzur, A; Main, M; Alsopp, J; Muntoni, F; (2009) Is there post-natal muscle growth in amyoplasia? A sequential MRI study. NEUROMUSCULAR DISORD , 19 (6) 444 - 445. 10.1016/j.nmd.2009.03.006.

Mercuri, E; Manzur, AY; Jungbluth, H; Bonne, G; Muchir, A; Sewry, C; ... Muntoni, F; + view all (2000) Early and severe presentation of autosomal dominant Emery-Dreifuss muscular dystrophy (EMD2). NEUROLOGY , 54 (8) 1704 - 1705.

Mercuri, E; Mayhew, A; Muntoni, F; Messina, S; Straub, V; Van Ommen, GJ; ... TREAT-NMD Neuromuscular Network,; + view all (2008) Towards harmonisation of outcome measures for DMD and SMA within TREAT-NMD; report of three expert workshops: TREAT-NMD/ENMC workshop on outcome measures, 12th--13th May 2007, Naarden, The Netherlands; TREAT-NMD workshop on outcome measures in experimental trials for DMD, 30th June--1st July 2007, Naarden, The Netherlands; conjoint Institute of Myology TREAT-NMD meeting on physical activity monitoring in neuromuscular disorders, 11th July 2007, Paris, France. Neuromuscul Disord , 18 (11) 894 - 903. 10.1016/j.nmd.2008.07.003.

Mercuri, E; Messina, S; Battini, R; Berardinelli, A; Boffi, P; Bono, R; ... Bertini, E; + view all (2006) Reliability of the Hammersmith functional motor scale for spinal muscular atrophy in a multicentric study. NEUROMUSCULAR DISORD , 16 (2) 93 - 98. 10.1016/j.nmd.2005.11.010.

Mercuri, E; Messina, S; Kinali, M; Cini, C; Longman, C; Battini, R; ... Muntoni, F; + view all (2004) Congenital form of spinal muscular atrophy predominantly affecting the lower limbs: a clinical and muscle MRI study. NEUROMUSCULAR DISORD , 14 (2) 125 - 129. 10.1016/j.nmd.2003.09.005.

Mercuri, E; Muntoni, F; (2013) Muscular dystrophy: new challenges and review of the current clinical trials. Curr Opin Pediatr , 25 (6) 701 - 707. 10.1097/MOP.0b013e328365ace5.

Mercuri, E; Muntoni, F; (2013) Muscular dystrophies. Lancet , 381 (9869) 845 - 860. 10.1016/S0140-6736(12)61897-2.

Mercuri, E; Muntoni, F; (2012) The ever-expanding spectrum of congenital muscular dystrophies. Ann Neurol , 72 (1) 9 - 17. 10.1002/ana.23548.

Mercuri, E; Muntoni, F; (2001) What's new in neuromuscular disorders? Nuclear envelope and Emery-Dreifuss muscular dystrophy. Eur J Paediatr Neurol , 5 (1) 3 - 5. 10.1053/ejpn.2001.0397.

MERCURI, E; MUNTONI, F; BERARDINELLI, A; PENNOCK, J; SEWRY, C; PHILPOT, J; DUBOWITZ, V; (1995) SOMATOSENSORY AND VISUAL-EVOKED POTENTIALS IN CONGENITAL MUSCULAR-DYSTROPHY - CORRELATION WITH MRI CHANGES AND MUSCLE MEROSIN STATUS. NEUROPEDIATRICS , 26 (1) 3 - 7.

Mercuri, E; Pennock, J; Goodwin, F; Sewry, C; Cowan, F; Dubowitz, L; ... Muntoni, F; + view all (1996) Sequential study of central and peripheral nervous system involvement in an infant with merosin-deficient congenital muscular dystrophy. NEUROMUSCULAR DISORD , 6 (6) 425 - 429.

Mercuri, E; Pichiecchio, A; Allsop, J; Messina, S; Pane, M; Muntoni, F; (2007) Muscle MRI in inherited neuromuscular disorders: Past, present, and future. J MAGN RESON IMAGING , 25 (2) 433 - 440. 10.1002/jmri.20804.

Mercuri, E; Poppe, M; Quinlivan, R; Messina, S; Kinali, M; Demay, L; ... Bushby, K; + view all (2004) Extreme variability of phenotype in patients with an identical missense mutation in the lamin A/C gene - From congenital onset with severe phenotype to milder classic Emery-Dreifuss variant. ARCH NEUROL-CHICAGO , 61 (5) 690 - 694.

Mercuri, E; Poulton, J; Buck, J; Broadbent, V; Bamford, M; Jungbluth, H; ... Muntoni, F; + view all (1999) Vincristine treatment revealing asymptomatic hereditary motor sensory neuropathy type 1A. ARCH DIS CHILD , 81 (5) 442 - 443.

Mercuri, E; Rutherford, M; De Vile, C; Counsell, S; Sewry, C; Brown, S; ... Muntoni, F; + view all (2001) Early white matter changes on brain magnetic resonance imaging in a newborn affected by merosin-deficient congenital muscular dystrophy. NEUROMUSCULAR DISORD , 11 (3) 297 - 299.

Mercuri, E; Sewry, C; Brown, SC; Muntoni, F; (2002) Congenital muscular dystrophies. Semin Pediatr Neurol , 9 (2) 120 - 131.

Mercuri, E; Sewry, CA; Brown, SC; Brockington, M; Jungbluth, H; DeVile, C; ... Muntoni, F; + view all (2000) Congenital muscular dystrophy with secondary merosin deficiency and normal brain MRI: A novel entity? NEUROPEDIATRICS , 31 (4) 186 - 189.

Mercuri, E; Talim, B; Moghadaszadeh, B; Petit, N; Brockington, M; Counsell, S; ... Merlini, L; + view all (2002) Clinical and imaging findings in six cases of congenital muscular dystrophy with rigid spine syndrome linked to chromosome 1p (RSMD1). NEUROMUSCULAR DISORD , 12 (7-8) 631 - 638.

Mercuri, E; Topaloglu, H; Brockington, M; Berardinelli, A; Pichiecchio, A; Santorelli, F; ... Muntoni, F; + view all (2006) Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations. ARCH NEUROL-CHICAGO , 63 (2) 251 - 257.

Mercuri, E; Topaloglu, H; Brockington, M; Berardinelli, A; Santorelli, F; Rutherford, M; ... Muntoni, F; + view all (2006) The spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations. DEV MED CHILD NEUROL , 48 6 - 6.

Mercuri, E; Yuva, Y; Brown, SC; Brockington, M; Kinali, M; Jungbluth, H; ... Muntoni, F; + view all (2002) Collagen VI involvement in Ullrich syndrome - A clinical, genetic, and immunohistochemical study. NEUROLOGY , 58 (9) 1354 - 1359.

MEREU, G; MUNTONI, F; CALABRESI, P; ROMANI, F; BOI, V; GESSA, GL; (1986) RESPONSIVENESS TO AUTORECEPTOR DOSES OF APOMORPHINE IS INVERSELY CORRELATED WITH THE FIRING RATE OF DOPAMINERGIC-A9 NEURONS - ACTION OF BACLOFEN. NEUROSCI LETT , 65 (2) 161 - 166.

Merlini, L; Estournet-Mathiaud, B; Iannaccone, S; Melki, J; Muntoni, F; Rudnik-Schöneborn, S; ... Voit, T; + view all (2002) 90th ENMC international workshop: European Spinal Muscular Atrophy Randomised Trial (EuroSMART) 9-10 February 2001, Naarden, The Netherlands. Neuromuscul Disord , 12 (2) 201 - 210.

Messina, S; Hartley, L; Main, M; Kinali, M; Jungbluth, H; Muntoni, F; Mercuri, E; (2004) Pilot trial of salbutamol in central core and multi-minicore diseases. NEUROPEDIATRICS , 35 (5) 262 - 266. 10.1055/s-2004-821173.

Mestroni, L; Miocic, S; Sinagra, G; Brodsky, GL; Di Barletta, MR; Mateddu, A; ... Muntoni, F; + view all (1999) Autosomal dominant dilated cardiomyopathy with subclinical skeletal muscle involvement. AM J HUM GENET , 65 (4) A335 - A335.

Mestroni, L; Muntoni, F; Milasin, J; DiLenarda, A; Sinagra, G; Rocco, C; ... Giacca, M; + view all (1996) Familial dilated cardiomyopathy with subclinical skeletal muscle involvement. CIRCULATION , 94 (8) 1582 - 1582.

Mestroni, L; Rocco, C; Gregori, D; Sinagra, G; Di Lenarda, A; Miocic, S; ... Camerini,; + view all (1999) Familial dilated cardiomyopathy: evidence for genetic and phenotypic heterogeneity. Heart Muscle Disease Study Group. J Am Coll Cardiol , 34 (1) 181 - 190.

Mestroni, L; Rocco, C; Gregori, D; Sinagra, G; Di Lenarda, A; Miocic, S; ... Heart Muscle Disease Study Grp,; + view all (1999) Familial dilated cardiomyopathy: Evidence for genetic and phenotypic heterogeneity. J AM COLL CARDIOL , 34 (1) 181 - 190.

Milasin, J; Muntoni, F; Severini, GM; Bartoloni, L; Vatta, M; Krajinovic, M; ... Davanzo, M; + view all (1996) A point mutation in the 5' splice site of the dystrophin gene first intron responsible for X-linked dilated cardiomyopathy. HUM MOL GENET , 5 (1) 73 - 79.

Minassian, BA; Auranen, MP; Scherer, SW; Villanova, M; Muntoni, F; Fardeau, M; Kalimo, H; (1999) The gene for X-linked Vacuolated Myopathy (XVM), is located in a 14 cM span of Xq28. AM J HUM GENET , 65 (4) A436 - A436.

Mitrpant, C; Adams, AM; Meloni, PL; Muntoni, F; Fletcher, S; Wilton, SD; (2009) Rational Design of Antisense Oligomers to Induce Dystrophin Exon Skipping. MOL THER , 17 (8) 1418 - 1426. 10.1038/mt.2009.49.

Mitrpant, C; Porensky, P; Zhou, H; Price, L; Muntoni, F; Fletcher, S; ... Burghes, AH; + view all (2013) Improved Antisense Oligonucleotide Design to Suppress Aberrant SMN2 Gene Transcript Processing: Towards a Treatment for Spinal Muscular Atrophy. PLoS One , 8 (4) , Article e62114 . 10.1371/journal.pone.0062114. Green and gold open access
file

Moghadaszadeh, B; Desguerre, I; Topaloglu, H; Muntoni, F; Pavek, S; Mayer, M; ... Guicheney, P; + view all (1998) Identification of a new locus for congenital muscular dystrophy with rigid spine syndrome to chromosome 1p35-36. EUR J HUM GENET , 6 39 - 39.

Moghadaszadeh, B; Desguerre, I; Topaloglu, H; Muntoni, F; Pavek, S; Sewry, C; ... Guicheney, P; + view all (1998) Identification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine, on chromosome 1p35-36. Am J Hum Genet , 62 (6) 1439 - 1445. 10.1086/301882.

Moghadaszadeh, B; Petit, N; Jaillard, C; Brockington, M; Roy, SQ; Merlini, L; ... Guicheney, P; + view all (2001) Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome. NAT GENET , 29 (1) 17 - 18.

Moghadaszadeh, B; Petit, P; Jaillard, C; Brockington, M; Roy, SQ; Merlini, L; ... Guicheney, P; + view all (2001) Identification of the gene causing congenital muscular dystrophy with early rigidity of the spine and restrictive respiratory syndrome (RSMD1). NEUROMUSCULAR DISORD , 11 (6-7) 670 - 670.

Moghadaszadeh, B; Topaloglu, H; Merlini, L; Muntoni, F; Estournet, B; Sewry, C; ... Guicheney, P; + view all (1999) Genetic heterogeneity of congenital muscular dystrophy with rigid spine syndrome. NEUROMUSCULAR DISORD , 9 (6-7) 376 - 382.

Mohan, U; Misra, VP; Britto, J; Muntoni, F; King, RHM; Thomas, PK; (2001) Inherited early onset severe axonal polyneuropathy with respiratory failure and autonomic involvement. NEUROMUSCULAR DISORD , 11 (4) 395 - 399.

Morgan, J; Muntoni, F; (2007) Mural cells paint a new picture of muscle stem cells. NAT CELL BIOL , 9 (3) 249 - 251. 10.1038/ncb0307-249.

Munot, P; Lashley, D; Jungbluth, H; Feng, L; Pitt, M; Robb, SA; ... Muntoni, F; + view all (2010) Congenital fibre type disproportion associated with mutations in the tropomyosin 3 (TPM3) gene mimicking congenital myasthenia. NEUROMUSCULAR DISORD , 20 (12) 796 - 800.

Muntoni, F; (2005) Walker-Warburg syndrome and limb girdle muscular dystrophy; two sides of the same coin. NEUROMUSCULAR DISORD , 15 (4) 269 - 270. 10.1016/j.nmd.2005.02.003.

Muntoni, F; (2004) Journey into muscular dystrophies caused by abnormal glycosylation. Acta Myol , 23 (2) 79 - 84.

Muntoni, F; (2003) Cardiomyopathy in muscular dystrophies. CURR OPIN NEUROL , 16 (5) 577 - 583. 10.1097/01.wco.0000093100.34793.81.

Muntoni, F; (2003) Cardiac complications of childhood myopathies. J CHILD NEUROL , 18 (3) 191 - 202.

Muntoni, F; (2003) Congenital muscular dystrophies (CMD). Eur J Paediatr Neurol , 7 (5) 229 - ?.

Muntoni, F; (2002) Gene table: congenital muscular dystrophies. Eur J Paediatr Neurol , 6 (1) 79 - ?. 10.1053/ejpn.2001.0545.

Muntoni, F; (2001) Is a muscle biopsy in Duchenne dystrophy really necessary? NEUROLOGY , 57 (4) 574 - 575.

MUNTONI, F; (1994) X-LINKED DILATED CARDIOMYOPATHY (VOL 329, PG 921, 1993). NEW ENGL J MED , 330 (5) 370 - 370.

MUNTONI, F; (1993) THE USE OF MULTIPLE ANTI-DYSTROPHIN ANTIBODIES IN DUCHENNE AND BECKER MUSCULAR-DYSTROPHY - REPLY. J NEUROL NEUROSUR PS , 56 (10) 1137 - 1138.

Muntoni, F; Bertini, E; Bönnemann, C; Brockington, M; Brown, S; Bushby, K; ... Guicheney, P; + view all (2002) 98th ENMC International Workshop on Congenital Muscular Dystrophy (CMD), 7th Workshop of the International Consortium on CMD, 2nd Workshop of the MYO CLUSTER project GENRE. 26-28th October, 2001, Naarden, The Netherlands. Neuromuscul Disord , 12 (9) 889 - 896.

Muntoni, F; Blake, D; Brockington, M; Brown, S; Hayashi, YK; Merlini, L; ... Guicheney, P; + view all (2002) 85th ENMC International Workshop on Congenital Muscular Dystrophy - 6th International CMD Workshop - 1st Workshop of the Myo-Cluster Project 'GENRE' - 27-28th October 2000, Naarden, The Netherlands (vol 12, pg 69, 2002). NEUROMUSCULAR DISORD , 12 (4) COVER4 - COVER4.

Muntoni, F; Bonne, G; Goldfarb, LG; Mercuri, E; Piercy, RJ; Burke, M; ... Brown, SC; + view all (2006) Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins. BRAIN , 129 1260 - 1268. 10.1093/brain/awl062.

Muntoni, F; Brockington, M; Blake, DJ; Torelli, S; Brown, SC; (2002) Defective glycosylation in muscular dystrophy. LANCET , 360 (9343) 1419 - 1421.

Muntoni, F; Brockington, M; Brown, SC; (2004) Glycosylation eases muscular dystrophy. NAT MED , 10 (7) 676 - 677. 10.1038/nm0704-676.

Muntoni, F; Brockington, M; Godfrey, C; Ackroyd, M; Robb, S; Manzur, A; ... Brown, SC; + view all (2007) Muscular dystrophies due to defective glycosylation of dystroglycan. Acta Myol , 26 (3) 129 - 135.

Muntoni, F; Brockington, M; Torelli, S; Brown, SC; (2004) Defective glycosylation in congenital muscular dystrophies. CURR OPIN NEUROL , 17 (2) 205 - 209. 10.1097/01.wco.0000124713.26506.f8.

Muntoni, F; Brown, S; Sewry, C; Patel, K; (2002) Muscle development genes: their relevance in neuromuscular disorders. NEUROMUSCULAR DISORDERS , 12 (5) 438 - 446.

Muntoni, F; Bushby, K; Manzur, AY; (2006) Muscular Dystrophy Campaign Funded Workshop on Management of Scoliosis in Duchenne Muscular Dystrophy 24 January 2005, London, UK. Neuromuscul Disord , 16 (3) 210 - 219. 10.1016/j.nmd.2006.01.004.

Muntoni, F; Bushby, K; van Ommen, G; (2005) 128th ENMC International Workshop on 'Preclinical optimization and Phase I/II Clinical Trials Using Antisense Oligonucleotides in Duchenne Muscular Dystrophy' 22-24 October 2004, Naarden, The Netherlands. Neuromuscul Disord , 15 (6) 450 - 457. 10.1016/j.nmd.2005.02.007.

Muntoni, F; Bushby, KD; van Ommen, G; (2008) 149th ENMC International Workshop and 1st TREAT-NMD Workshop on: "planning phase i/ii clinical trials using systemically delivered antisense oligonucleotides in duchenne muscular dystrophy". Neuromuscul Disord , 18 (3) 268 - 275. 10.1016/j.nmd.2007.11.010.

MUNTONI, F; CATANI, G; MATEDDU, A; RIMOLDI, M; CONGIU, T; FAA, G; ... PORCU, M; + view all (1994) FAMILIAL CARDIOMYOPATHY, MENTAL-RETARDATION AND MYOPATHY ASSOCIATED WITH DESMIN-TYPE INTERMEDIATE FILAMENTS. NEUROMUSCULAR DISORD , 4 (3) 233 - 241.

MUNTONI, F; CAU, M; CONGIU, R; CONGIA, M; CAO, A; MELIS, MA; (1993) IDENTIFICATION OF A NOVEL T-INSERTION POLYMORPHISM AT THE DMD LOCUS. HUM GENET , 92 (1) 103 - 103.

MUNTONI, F; CAU, M; GANAU, A; CONGIU, R; ARVEDI, G; MATEDDU, A; ... MELIS, MA; + view all (1993) BRIEF REPORT - DELETION OF THE DYSTROPHIN MUSCLE-PROMOTER REGION ASSOCIATED WITH X-LINKED DILATED CARDIOMYOPATHY. NEW ENGL J MED , 329 (13) 921 - 925.

MUNTONI, F; CONGIA, M; CUCCA, F; COSSU, P; PORCU, S; FRAU, F; ... PIRASTU, M; + view all (1992) THE HLA DQB1-ASTERISK-0502 ALLELE IS NEUTRALLY ASSOCIATED WITH INSULIN-DEPENDENT DIABETES-MELLITUS IN THE SARDINIAN POPULATION. TISSUE ANTIGENS , 39 (5) 262 - 265.

Muntoni, F; Di Lenarda, A; Porcu, M; Sinagra, G; Mateddu, A; Marrosu, G; ... Mestroni, L; + view all (1997) Dystrophin gene abnormalities in two patients with idiopathic dilated cardiomyopathy. HEART , 78 (6) 608 - 612.

Muntoni, F; Ferlini, A; (1999) Paola Gobbi - 9 November 1966 23 February 1999 - Obituary. NEUROMUSCULAR DISORD , 9 (6-7) 455 - 455.

Muntoni, F; Ferlini, A; Sewry, C; Mateddu, A; Marrosu, G; Porcu, M; ... Mestroni, L; + view all (1999) Dilated cardiomyopathy and muscular dystrophies: which lesson can be learned? Cardiologia , 44 Suppl 1 (Pt 1) 209 - 211.

MUNTONI, F; FERLINI, A; TORELLI, S; SEWRY, C; (1995) DP71 CARDIAC EXPRESSION IN 2 FAMILIES WITH X-LINKED DILATED CARDIOMYOPATHY AND A DYSTROPHIN GENE MUTATION. AM J HUM GENET , 57 (4) 1429 - 1429.

Muntoni, F; Fisher, I; Morgan, JE; Abraham, D; (2002) Steroids in Duchenne muscular dystrophy: from clinical trials to genomic research. NEUROMUSCULAR DISORDERS , 12 S162 - S165.

MUNTONI, F; GOBBI, P; SEWRY, C; SHERRATT, T; TAYLOR, J; SANDHU, SK; ... DUBOWITZ, V; + view all (1994) DELETIONS IN THE 5' REGION OF DYSTROPHIN AND RESULTING PHENOTYPES. J MED GENET , 31 (11) 843 - 847.

Muntoni, F; Goodwin, F; Sewry, C; Cox, P; Cowan, F; Airaksinen, E; ... Dubowitz, V; + view all (1999) Clinical spectrum and diagnostic difficulties of infantile ponto-cerebellar hypoplasia type 1. NEUROPEDIATRICS , 30 (5) 243 - 248.

Muntoni, F; Guicheney, P; (2002) 85th ENMC International Workshop on Congenital Muscular Dystrophy. 6th International CMD Workshop. 1st Workshop of the Myo-Cluster Project 'GENRE'. 27-28th October 2000, Naarden, The Netherlands. Neuromuscul Disord , 12 (1) 69 - 78.

Muntoni, F; Guicheney, P; Voit, T; (2009) 158th ENMC international workshop on congenital muscular dystrophy (Xth international CMD workshop) 8th-10th February 2008 Naarden, The Netherlands. Neuromuscul Disord , 19 (3) 229 - 234. 10.1016/j.nmd.2008.11.008.

MUNTONI, F; HIRD, M; SIMONDS, AK; (1994) PREVENTIVE NASAL VENTILATION IN DUCHENNE MUSCULAR-DYSTROPHY. LANCET , 344 (8918) 340 - 340.

MUNTONI, F; LAMPIS, R; FRAU, F; ARGIOLAS, L; MURRU, MR; COSTA, G; CONGIA, M; (1991) A PVUII RFLP AT D6S114E LOCUS IN THE HLA REGION (RING4 LOCUS). NUCLEIC ACIDS RES , 19 (24) 6974 - 6974. Gold open access

Muntoni, F; Lichtarowicz-Krynska, EJ; Sewry, CA; Manilal, S; Recan, D; Llense, S; ... Dubowitz, V; + view all (1998) Early presentation of X-linked Emery-Dreifuss muscular dystrophy resembling limb-girdle muscular dystrophy. NEUROMUSCULAR DISORD , 8 (2) 72 - 76.

MUNTONI, F; MATEDDU, A; CAU, M; CONGIU, R; PUDDU, R; COSSU, P; ... MELIS, MA; + view all (1993) DIAGNOSIS OF DMD CARRIER STATUS IN A FAMILY WITH NO KNOWN AFFECTED MALES. DEV MED CHILD NEUROL , 35 (1) 70 - 73.

MUNTONI, F; MATEDDU, A; CIANCHETTI, C; MARROSU, MG; CLERK, A; CAU, M; ... MELIS, MA; + view all (1993) DYSTROPHIN ANALYSIS USING A PANEL OF ANTI-DYSTROPHIN ANTIBODIES IN DUCHENNE AND BECKER MUSCULAR-DYSTROPHY. J NEUROL NEUROSUR PS , 56 (1) 26 - 31.

MUNTONI, F; MATEDDU, A; MARCHEI, F; CLERK, A; SERRA, G; (1993) MUSCULAR WEAKNESS IN THE MDX MOUSE. J NEUROL SCI , 120 (1) 71 - 77.

MUNTONI, F; MATEDDU, A; MARROSU, MG; CAU, M; CONGIU, R; MELIS, MA; ... CIANCHETTI, C; + view all (1992) VARIABLE DYSTROPHIN EXPRESSION IN DIFFERENT MUSCLES OF A DUCHENNE MUSCULAR-DYSTROPHY CARRIER. CLIN GENET , 42 (1) 35 - 38.

Muntoni, F; Mateddu, A; Serra, G; (1991) Passive avoidance behaviour deficit in the mdx mouse. Neuromuscul Disord , 1 (2) 121 - 123.

Muntoni, F; Meeting Steering Committee and TREAT-NMD Network,; (2010) The development of antisense oligonucleotide therapies for Duchenne muscular dystrophy: report on a TREAT-NMD workshop hosted by the European Medicines Agency (EMA), on September 25th 2009. Neuromuscul Disord , 20 (5) 355 - 362. 10.1016/j.nmd.2010.03.005.

MUNTONI, F; MELIS, MA; GANAU, A; DUBOWITZ, V; (1995) TRANSCRIPTION OF THE DYSTROPHIN GENE IN NORMAL-TISSUES AND IN SKELETAL-MUSCLE OF A FAMILY WITH X-LINKED DILATED CARDIOMYOPATHY. AM J HUM GENET , 56 (1) 151 - 157.

Muntoni, F; Mestroni, L; (2002) [Dilated cardiomyopathy: role of clinical and instrumental evaluation of the neuromuscular system]. Ital Heart J Suppl , 3 (4) 399 - 404.

MUNTONI, F; MURRU, MR; COSTA, G; CONGIA, M; CUCCA, F; COSSU, P; ... MARROSU, MG; + view all (1991) DIFFERENT HLA DR2-DQWL HAPLOTYPES IN SARDINIAN AND NORTHERN ITALIAN POPULATIONS - IMPLICATIONS FOR MULTIPLE-SCLEROSIS SUSCEPTIBILITY. TISSUE ANTIGENS , 38 (1) 34 - 36.

MUNTONI, F; SEWRY, C; WILSON, L; ANGELINI, C; TREVISAN, CP; BRAMBATI, B; DUBOWITZ, V; (1995) PRENATAL-DIAGNOSIS IN CONGENITAL MUSCULAR-DYSTROPHY. LANCET , 345 (8949) 591 - 591.

Muntoni, F; Sewry, CA; (2003) Central core disease: new findings in an old disease. BRAIN , 126 2339 - 2340. 10.1093/brain/awg288.

Muntoni, F; Sewry, CA; (1998) Congenital muscular dystrophy - From rags to riches. NEUROLOGY , 51 (1) 14 - 16.

MUNTONI, F; STRONG, PN; (1989) TRANSCRIPTION OF THE DYSTROPHIN GENE IN DUCHENNE MUSCULAR-DYSTROPHY MUSCLE. FEBS LETT , 252 (1-2) 95 - 98.

Muntoni, F; Taylor, J; Sewry, CA; Naom, I; Dubowitz, V; (1998) An early onset muscular dystrophy with diaphragmatic involvement, early respiratory failure and secondary alpha2 laminin deficiency unlinked to the LAMA2 locus on 6q22. Eur J Paediatr Neurol , 2 (1) 19 - 26.

Muntoni, F; Torelli, S; Brockington, M; (2008) Muscular dystrophies due to glycosylation defects. NEUROTHERAPEUTICS , 5 (4) 627 - 632.

Muntoni, F; Torelli, S; Ferlini, A; (2003) Dystrophin and mutations: one gene, several proteins, multiple phenotypes. LANCET NEUROL , 2 (12) 731 - 740.

Muntoni, F; Torelli, S; Wells, DJ; Brown, SC; (2011) Muscular dystrophies due to glycosylation defects: diagnosis and therapeutic strategies. CURR OPIN NEUROL , 24 (5) 437 - 442. 10.1097/WCO.0b013e32834a95e3.

Muntoni, F; Valero de Bernabe, B; Bittner, R; Blake, D; van Bokhoven, H; Brockington, M; ... Guicheney, P; + view all (2003) 114th ENMC International Workshop on Congenital Muscular Dystrophy (CMD) 17-19 January 2003, Naarden, The Netherlands: (8th Workshop of the International Consortium on CMD; 3rd Workshop of the MYO-CLUSTER project GENRE). Neuromuscul Disord , 13 (7-8) 579 - 588.

Muntoni, F; Voit, T; (2005) 133rd ENMC International Workshop on Congenital Muscular Dystrophy (IXth International CMD Workshop) 21-23 January 2005, Naarden, The Netherlands. Neuromuscul Disord , 15 (11) 794 - 801. 10.1016/j.nmd.2005.07.004.

Muntoni, F; Voit, T; (2004) The congenital muscular dystrophies in 2004: a century of exciting progress. NEUROMUSCULAR DISORD , 14 (10) 635 - 649. 10.1016/j.nmd.2004.06.009.

Muntoni, F; Wells, D; (2007) Genetic treatments in muscular dystrophies. CURR OPIN NEUROL , 20 (5) 590 - 594.

MUNTONI, F; WILSON, L; MARROSU, G; MARROSU, MG; CIANCHETTI, C; MESTRONI, L; ... SEWRY, C; + view all (1995) A MUTATION IN THE DYSTROPHIN GENE SELECTIVELY AFFECTING DYSTROPHIN EXPRESSION IN THE HEART. J CLIN INVEST , 96 (2) 693 - 699.

Muntoni, F; Wood, MJA; (2011) Targeting RNA to treat neuromuscular disease. NAT REV DRUG DISCOV , 10 (8) 621 - 637. 10.1038/nrd3459.

Muntoni, F; Zafeiriou, DI; Jimenez, C; Reuser, A; Sewry, C; (2005) A case presenting with delayed motor milestones. NEUROMUSCULAR DISORD , 15 (11) 817 - 818. 10.1016/j.nmd.2005.07.007.

Murru, MR; Costa, G; Murru, R; Muntoni, F; Marrosu, MG; (1996) A new allelic variant of HLA-DRB1*1101 (DRB1*11013) segregating in a Sardinian family. TISSUE ANTIGENS , 48 (5) 604 - 606.

Nadeau, A; Kinali, M; Main, M; Jimenez-Mallebrera, C; Aloysius, A; Clement, E; ... Muntoni, F; + view all (2009) Natural history of Ullrich congenital muscular dystrophy. NEUROLOGY , 73 (1) 25 - 31. 10.1212/WNL.0b013e3181aae851.

Nadeau, A; Muntoni, F; (2008) Skin changes in Ullrich congenital muscular dystrophy. NEUROMUSCULAR DISORD , 18 (12) 982 - 982. 10.1016/j.nmd.2008.07.011.

Naom, I; D'Alessandro, M; Sewry, CA; Jardine, P; Ferlini, A; Moss, T; ... Muntoni, F; + view all (2000) Mutations in the laminin alpha 2-chain gene in two children with early-onset muscular dystrophy. BRAIN , 123 31 - 41.

Naom, I; D'Alessandro, M; Sewry, CA; Philpot, J; Manzur, AY; Dubowitz, V; Muntoni, F; (1998) Laminin alpha 2-chain gene mutations in two siblings presenting with limb-girdle muscular dystrophy. NEUROMUSCULAR DISORD , 8 (7) 495 - 501.

Naom, I; DAlessandro, M; Sewry, C; Ferlini, A; Topaloglu, H; HelblingLeclerc, A; ... Muntoni, F; + view all (1997) The role of immunocytochemistry and linkage analysis in the prenatal diagnosis of merosin-deficient congenital muscular dystrophy. HUM GENET , 99 (4) 535 - 540.

Naom, I; Sewry, C; DAlessandro, M; Topaloglu, H; Ferlini, A; Wilson, L; ... Muntoni, F; + view all (1997) Prenatal diagnosis in merosin-deficient congenital muscular dystrophy. NEUROMUSCULAR DISORDERS , 7 (3) 176 - 179.

Naom, IS; DAlessandro, M; Topaloglu, H; Sewry, C; Ferlini, A; HelblingLeclerc, A; ... Muntoni, F; + view all (1997) Refinement of the laminin alpha 2 chain locus to human chromosome 6q2 in severe and mild merosin deficient congenital muscular dystrophy. J MED GENET , 34 (2) 99 - 104.

Neri, M; Torelli, S; Brown, S; Ugo, I; Sabatelli, P; Merlini, L; ... Muntoni, F; + view all (2007) Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human. NEUROMUSCULAR DISORD , 17 (11-12) 913 - 918. 10.1016/j.nmd.2007.07.005.

Neri, M; Valli, E; Alfano, G; Bovolenta, M; Spitali, P; Rapezzi, C; ... Ferlini, A; + view all (2012) The absence of dystrophin brain isoform expression in healthy human heart ventricles explains the pathogenesis of 5' X-linked dilated cardiomyopathy. BMC Med Genet , 13 20 - ?. 10.1186/1471-2350-13-20.

Nevo, Y; Muntoni, F; Sewry, C; Legum, C; Kutai, M; Harel, S; Dubowitz, V; (2003) Large in-frame deletions of the rod-shaped domain of the dystrophin gene resulting in severe phenotype. ISRAEL MED ASSOC J , 5 (2) 94 - 97.

Nigro, G; Muntoni, F; (1997) 42nd ENMC Sponsored International Workshop: X-Linked Cardiomyopathies - 21-23 June 1996, Naarden, The Netherlands. NEUROMUSCULAR DISORD , 7 (6-7) 397 - 403.

Noordeen, MHH; Haddad, FS; Muntoni, F; Gobbi, P; Hollyer, JS; Bentley, G; (1999) Blood loss in Duchenne muscular dystrophy: Vascular smooth muscle dysfunction? J PEDIATR ORTHOP B , 8 (3) 212 - 215.

Nowak, KJ; Sewry, CA; Navarro, C; Squier, W; Reina, C; Ricoy, JR; ... Laing, NG; + view all (2007) Nemaline myopathy caused by absence of alpha-skeletal muscle actin. ANN NEUROL , 61 (2) 175 - 184. 10.1002/ana.21035.

Nowak, KJ; Wattanasirichaigoon, D; Goebel, HH; Wilce, M; Pelin, K; Donner, K; ... Laing, NG; + view all (1999) Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy. NAT GENET , 23 (2) 208 - 212.

Oates, EC; Rossor, AM; Hafezparast, M; Gonzalez, M; Speziani, F; MacArthur, DG; ... Reilly, MM; + view all (2013) Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia. Am J Hum Genet , 92 (6) 965 - 973. 10.1016/j.ajhg.2013.04.018.

Olpin, SE; Afifi, A; Clark, S; Manning, NJ; Bonham, JR; Dalton, A; ... Pollitt, RJ; + view all (2003) Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency. J INHERIT METAB DIS , 26 (6) 543 - 557.

Olpin, SE; Clark, S; Andresen, B; Bischoff, C; Olsen, RKJ; Gregersen, N; ... Pourfarzam, M; + view all (2005) Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency. J INHERIT METAB DIS , 28 (4) 533 - 544. 10.1007/s10545-005-0533-8.

Otto, A; Schmidt, C; Luke, G; Allen, S; Valasek, P; Muntoni, F; ... Patel, K; + view all (2008) Canonical Wnt signalling induces satellite-cell proliferation during adult skeletal muscle regeneration. J CELL SCI , 121 (17) 2939 - 2950. 10.1242/jcs.026534.

Owen, N; Zhou, HY; Malygin, AA; Sangha, J; Smith, LD; Muntoni, F; Eperon, IC; (2011) Design principles for bifunctional targeted oligonucleotide enhancers of splicing. Nucleic Acids Research , 39 (16) 7194- 7208. 10.1093/nar/gkr152. Green and gold open access
file

Paco, S; Kalko, SG; Jou, C; Rodríguez, MA; Corbera, J; Muntoni, F; ... Jimenez-Mallebrera, C; + view all (2013) Gene Expression Profiling Identifies Molecular Pathways Associated with Collagen VI Deficiency and Provides Novel Therapeutic Targets. PLoS One , 8 (10) e77430 - ?. 10.1371/journal.pone.0077430.

Pandraud, A; Clayton, P; Foley, AR; Muntoni, F; Johnson, JO; Singleton, AB; ... Houlden, H; + view all (2012) INVESTIGATION OF RIBOFLAVIN TRANSPORTER MUTATIONS IN BROWN-VIALETTO-VAN LAERE SYNDROME, A POTENTIALLY TREATABLE METABOLIC DISEASE. JOURNAL OF INHERITED METABOLIC DISEASE , 35 S18 - S18.

Pane, M; Messina, S; Vasco, G; Foley, AR; Morandi, L; Pegoraro, E; ... Mercuri, E; + view all (2012) Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency. Neuromuscul Disord , 22 (8) 685 - 689. 10.1016/j.nmd.2012.05.006.

Pane, M; Scalise, R; Berardinelli, A; D'Angelo, G; Ricotti, V; Alfieri, P; ... Mercuri, E; + view all (2013) Early neurodevelopmental assessment in Duchenne muscular dystrophy. Neuromuscul Disord , 23 (6) 451 - 455. 10.1016/j.nmd.2013.02.012.

Pane, M; Staccioll, S; Messina, S; D'Arnico, A; Pelliccioni, M; Mazzone, ES; ... Mercuri, E; + view all (2008) Daily salbutamol in young patients with SMA type II. NEUROMUSCULAR DISORD , 18 (7) 536 - 540. 10.1016/j.nmd.2008.05.004.

Patel, K; Muntoni, F; (2004) Inducing muscle hypertrophy as a therapeutic strategy for muscular dystrophies. 122nd ENMC International Workshop, Naarden, The Netherlands, 28-30 November 2003. Neuromuscul Disord , 14 (8-9) 519 - 525. 10.1016/j.nmd.2004.03.001.

Paternostro, G; Pagano, D; Bonser, RS; Muntoni, F; Camici, PG; (1997) The GLUT-4 glucose transporter protein is reduced in the failing human heart. CIRCULATION , 96 (8) 3510 - 3510.

Pelin, K; Donner, K; Holmberg, M; Jungbluth, H; Muntoni, F; Wallgren-Pettersson, C; (2002) Nebulin mutations in autosomal recessive nemaline myopathy: an update. NEUROMUSCULAR DISORD , 12 (7-8) 680 - 686.

Pelin, K; Hilpela, P; Donner, K; Sewry, C; Akkari, PA; Wilton, SD; ... Wallgren-Pettersson, C; + view all (1999) Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. P NATL ACAD SCI USA , 96 (5) 2305 - 2310.

Pepe, G; Bertini, E; Bonaldo, P; Bushby, K; Giusti, B; de Visser, M; ... van der Kooi, A; + view all (2002) Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC international workshop, 23-24 November 2001, Naarden, The Netherlands. Neuromuscul Disord , 12 (10) 984 - 993.

Pepe, G; de Visser, M; Bertini, E; Bushby, K; Vanegas, OC; Chu, ML; ... Urtizberea, A; + view all (2002) Bethlem myopathy (BETHLEM) 86th ENMC international workshop, 10-11 November 2000, Naarden, The Netherlands. Neuromuscul Disord , 12 (3) 296 - 305.

Philpot, J; Bagnall, A; King, C; Dubowitz, V; Muntoni, F; (1999) Feeding problems in merosin deficient congenital muscular dystrophy. ARCH DIS CHILD , 80 (6) 542 - 547.

Philpot, J; Counsell, S; Bydder, G; Sewry, CA; Dubowitz, V; Muntoni, F; (2001) Neonatal arthrogryposis and absent limb muscles: a muscle developmental gene defect? NEUROMUSCULAR DISORD , 11 (5) 489 - 493.

Philpot, J; Cowan, F; Pennock, J; Sewry, C; Dubowitz, V; Bydder, G; Muntoni, F; (1999) Merosin-deficient congenital muscular dystrophy: the spectrum of brain involvement on magnetic resonance imaging. NEUROMUSCULAR DISORD , 9 (2) 81 - 85.

Philpot, J; Muntoni, F; (1999) Limitation of eye movement in merosin-deficient congenital muscular dystrophy. LANCET , 353 (9149) 297 - 298.

PHILPOT, J; MUNTONI, F; SKELLETT, S; DUBOWITZ, V; (1995) CONGENITAL SYMMETRICAL WEAKNESS OF THE UPPER LIMBS RESEMBLING BRACHIAL-PLEXUS PALSY - A POSSIBLE SEQUEL OF DRUG TOXICITY IN FIRST TRIMESTER OF PREGNANCY. NEUROMUSCULAR DISORD , 5 (1) 67 - 69.

Philpot, J; Pennock, J; Cowan, F; Sewry, CA; Dubowitz, V; Bydder, G; Muntoni, F; (2000) Brain magnetic resonance imaging abnormalities in merosin-positive congenital muscular dystrophy. Eur J Paediatr Neurol , 4 (3) 109 - 114. 10.1053/ejpn.2000.0277.

Piercy, RJ; Zhou, HY; Feng, L; Pombo, A; Muntoni, F; Brown, SC; (2007) Desmin immunolocalisation in autosomal dominant Emery-Dreifuss muscular dystrophy. NEUROMUSCULAR DISORD , 17 (4) 297 - 305. 10.1016/j.nmd.2007.01.003.

Pitceathly, RD; Rahman, S; Wedatilake, Y; Polke, JM; Cirak, S; Foley, AR; ... Hanna, MG; + view all (2013) NDUFA4 Mutations Underlie Dysfunction of a Cytochrome c Oxidase Subunit Linked to Human Neurological Disease. Cell Rep 10.1016/j.celrep.2013.05.005.

Pitceathly, RD; Taanman, JW; Rahman, S; Meunier, B; Sadowski, M; Cirak, S; ... for the UK10K Consortium,; + view all (2013) COX10 Mutations Resulting in Complex Multisystem Mitochondrial Disease That Remains Stable Into Adulthood. JAMA Neurol 10.1001/jamaneurol.2013.3242.

Pitceathly, RDS; Rahman, S; Wedatilake, Y; Polke, JM; Cirak, S; Foley, AR; ... Consortium, U; + view all (2013) NDUFA4 Mutations Underlie Dysfunction of a Cytochrome c Oxidase Subunit Linked to Human Neurological Disease (vol 3, pg 1795, 2013). CELL REPORTS , 4 (2) 402 - 402. 10.1016/j.celrep.2013.06.032. Gold open access

Pogue, R; Anderson, LVB; Pyle, A; Sewry, C; Pollitt, C; Johnson, MA; ... Bushby, KMD; + view all (2001) Strategy for mutation analysis in the autosomal recessive limb-girdle muscular dystrophies. NEUROMUSCULAR DISORD , 11 (1) 80 - 87.

Poppe, M; Bourke, J; Eagle, M; Frosk, P; Wrogemann, K; Greenberg, C; ... Bushby, K; + view all (2004) Cardiac and respiratory failure in limb-girdle muscular dystrophy 21. ANN NEUROL , 56 (5) 738 - 741. 10.1002/ana.20283.

Poppe, M; Cree, L; Bourke, J; Eagle, M; Anderson, LVB; Birchall, D; ... Bushby, K; + view all (2003) The phenotype of limb-girdle muscular dystrophy type 2I. NEUROLOGY , 60 (8) 1246 - 1251.

Popplewell, LJ; Adkin, C; Arechavala-Gomeza, V; Aartsma-Rus, A; de Winter, CL; Wilton, SD; ... Dickson, G; + view all (2010) Comparative analysis of antisense oligonucleotide sequences targeting exon 53 of the human DMD gene: Implications for future clinical trials. NEUROMUSCULAR DISORD , 20 (2) 102 - 110. 10.1016/j.nmd.2009.10.013.

PORCU, M; MUNTONI, F; CATANI, G; MEREU, D; (1994) FAMILIAL CARDIAC AND SKELETAL MYOPATHY ASSOCIATED WITH DESMIN ACCUMULATION. CLIN CARDIOL , 17 (5) 277 - 279.

Quijano-Roy, S; Mbieleu, B; Bonnemann, CG; Jeannet, PY; Colomer, J; Clarke, NF; ... Estournet, B; + view all (2008) De novo LMNA mutations cause a new form of congenital muscular dystrophy. ANN NEUROL , 64 (2) 177 - 186. 10.1002/ana.21417.

Quinlivan, R; Mitsuahashi, S; Sewry, C; Cirak, S; Aoyama, C; Mooore, D; ... Straub, V; + view all (2013) Muscular dystrophy with large mitochondria associated with mutations in the CHKB gene in three British patients: Extending the clinical and pathological phenotype. Neuromuscul Disord 10.1016/j.nmd.2013.04.002.

Ramelli, GP; Aloysius, A; King, C; Davis, T; Muntoni, F; (2007) Gastrostomy placement in paediatric patients with neuromuscular disorders: indications and outcome. DEV MED CHILD NEUROL , 49 (5) 367 - 371.

Ramelli, GP; Bagnall, A; King, C; Davies, T; Muntoni, F; (2006) Gastrostomy placement in paediatric neuromuscular patients: indications and outcome. DEV MED CHILD NEUROL , 48 27 - 28.

RAPISARDA, R; MUNTONI, F; GOBBI, P; DUBOWITZ, V; (1995) DUCHENNE MUSCULAR-DYSTROPHY PRESENTING WITH FAILURE-TO-THRIVE. ARCH DIS CHILD , 72 (5) 437 - 438.

Ravenscroft, G; Miyatake, S; Lehtokari, V-L; Todd, EJ; Vomauen, P; Yau, KS; ... laing, NG; + view all (2013) Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy. AMERICAN JOURNAL OF HUMAN GENETICS , 93 (1) 6 - 18. 10.1016/j.ajhg.2013.05.004.

Read, J; Kinali, M; Muntoni, F; Garralda, ME; (2010) Psychosocial adjustment in siblings of young people with Duchenne muscular dystrophy. EUR J PAEDIATR NEURO , 14 (4) 340 - 348. 10.1016/j.ejpn.2009.09.011.

Read, J; Kinali, M; Muntoni, F; Weaver, T; Garralda, ME; (2011) Siblings of young people with Duchenne muscular dystrophy - A qualitative study of impact and coping. EUR J PAEDIATR NEURO , 15 (1) 21 - 28. 10.1016/j.ejpn.2010.07.006.

Read, J; Simonds, A; Kinali, M; Muntoni, F; Garralda, ME; (2010) Sleep and well-being in young men with neuromuscular disorders receiving non-invasive ventilation and their carers. NEUROMUSCULAR DISORD , 20 (7) 458 - 463. 10.1016/j.nmd.2010.05.011.

rechavala-Gomeza, V; Kinali, M; Feng, L; Brown, SC; Sewry, C; Morgan, JE; Muntoni, F; (2009) Immunohistological intensity measurements as a tool to assess. Neuropathol Appl Neurobiol

Rees, MI; Lewis, TM; Vafa, B; Ferrie, C; Corry, P; Muntoni, F; ... Owen, MJ; + view all (2001) Compound heterozygosity and nonsense mutations in the alpha(1)-subunit of the inhibitory glycine receptor in hyperekplexia. HUM GENET , 109 (3) 267 - 270.

Reilly, MM; Shy, ME; Muntoni, F; Pareyson, D; (2010) 168th ENMC International Workshop: outcome measures and clinical trials in Charcot-Marie-Tooth disease (CMT). Neuromuscul Disord , 20 (12) 839 - 846. 10.1016/j.nmd.2010.08.001.

Ricotti, V; Ridout, DA; Muntoni, F; on behalf of the NorthStar Clinical Network,; (2013) Steroids in Duchenne muscular dystrophy. Neuromuscul Disord 10.1016/j.nmd.2013.06.373.

Ricotti, V; Ridout, DA; Scott, E; Quinlivan, R; Robb, SA; Manzur, AY; ... NorthStar Clinical Network,; + view all