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Article

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.

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) pp. 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 , 23 (11) pp. 934-944. 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; Piercy, RJ; (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; Muntoni, F; (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 open access
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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.

Alshaikh, N; Brunklaus, A; Davis, T; Robb, SA; Quinlivan, R; Munot, P; Sarkozy, A; (2016) Vitamin D in corticosteroid-naïve and corticosteroid-treated Duchenne muscular dystrophy: what dose achieves optimal 25(OH) vitamin D levels? Arch Dis Child 10.1136/archdischild-2015-308825.

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; Voit, T; (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; Voit, T; (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; Tasca, G; (2014) Biochemical characterization of patients with in-frame or out-of-frame DMD deletions pertinent to exon 44 or 45 skipping. JAMA Neurology , 71 (1) 32 - 40. 10.1001/jamaneurol.2013.4908. Green open access
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Anthony, K; Arechavala-Gomeza, V; Taylor, LE; Vulin, A; Kaminoh, Y; Torelli, S; Feng, L; (2014) Dystrophin quantification: Biological and translational research implications. Neurology , 83 (22) 2062 - 2069. 10.1212/WNL.0000000000001025. Green open access
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Anthony, K; Cirak, S; Torelli, S; Tasca, G; Feng, L; Arechavala-Gomeza, V; Armaroli, A; (2011) Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trials. Brain , 134 (Pt 12) pp. 3547-3559. 10.1093/brain/awr291.

Anthony, K; Feng, L; Arechavala-Gomeza, V; Guglieri, M; Straub, V; Bushby, K; Cirak, S; (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) pp. 336-345. 10.1089/hgtb.2012.117.

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
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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
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Arechavala-Gomeza, V; Graham, IR; Popplewell, LJ; Adams, AM; Aartsma-Rus, A; Kinali, M; Morgan, JE; (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
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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
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Arechavala-Gomeza, V; Kinali, M; Feng, L; Guglieri, M; Edge, G; Main, M; Hunt, D; (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
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Astrea, G; Munteanu, I; Cassandrini, D; Lillis, S; Trovato, R; Pegoraro, E; Cioni, G; (2015) A diagnostic dilemma in a family with cystinuria type B resolved by muscle magnetic resonance. Pediatr Neurol , 52 (5) pp. 548-551. 10.1016/j.pediatrneurol.2015.01.018.

Astrea, G; Schessl, J; Clement, E; Tosetti, M; Mercuri, E; Rutherford, M; Cioni, G; (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; Hiller, M; (2014) Affinity proteomics within rare diseases: a BIO-NMD study for blood biomarkers of muscular dystrophies. EMBO Mol Med , 6 (7) pp. 918-936. 10.15252/emmm.201303724.

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.

Babcock, MA; Kostova, FV; Moxley, RT; Chamberlain, JS; Maria, BL; Muntoni, F; Wagner, K; (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; Patarnello, T; (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; Pozzan, T; (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; Bittner, RE; (2012) Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss. Am J Hum Genet , 90 (2) pp. 201-216. 10.1016/j.ajhg.2011.12.004.

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) pp. 436-445.

Belaya, K; Rodríguez Cruz, PM; Liu, WW; Maxwell, S; McGowan, S; Farrugia, ME; Petty, R; (2015) Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies. Brain , 138 (Pt 9) pp. 2493-2504. 10.1093/brain/awv185.

Bertini, E; Burghes, A; Bushby, K; Estournet-Mathiaud, B; Finkel, RS; Hughes, RA; Iannaccone, ST; (2005) 134th ENMC International Workshop: Outcome Measures and Treatment of Spinal Muscular Atrophy, 11-13 February 2005, Naarden, The Netherlands. Neuromuscul Disord , 15 (11) pp. 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; Henning, E; (2012) A mutation in the thyroid hormone receptor alpha gene. N Engl J Med , 366 (3) pp. 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; 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) pp. 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) pp. 2478-2487. 10.1002/stem.162.

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) pp. 73-76. 10.1053/ejpn.2000.0266.

Bonne, G; Capeau, J; De Visser, M; Duboc, D; Merlini, L; Morris, GE; Muntoni, F; (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) pp. 187-194.

Bonne, G; Di Barletta, MR; Varnous, S; Becane, HM; Hammouda, EH; Merlini, L; Muntoni, F; (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; Merlini, L; (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; Muntoni, F; (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; Duboc, D; (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) pp. 508-515.

Boor, I; Nagtegaal, M; Kamphorst, W; van der Valk, P; Pronk, JC; van Horssen, J; Dinopoulos, A; (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; Martoni, E; (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 open access
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Brockington, M; Blake, DJ; Prandini, P; Brown, SC; Torelli, S; Benson, MA; Ponting, CP; (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; Ponting, CP; (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; Sewry, CA; (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) pp. 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; Dubowitz, V; (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; Topaloglu, H; (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; Brown, SC; (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; Wells, DJ; (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 open access
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Brockington, M; Yuva, Y; Prandini, P; Brown, SC; Torelli, S; Benson, MA; Herrmann, R; (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; Toniolo, D; (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; Anderson, L; (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 pp. 313-321.

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

Brunklaus, A; Parish, E; Muntoni, F; Scuplak, S; Tucker, SK; Fenton, M; Hughes, ML; (2015) The value of cardiac MRI versus echocardiography in the pre-operative assessment of patients with Duchenne muscular dystrophy. Eur J Paediatr Neurol , 19 (4) pp. 395-401. 10.1016/j.ejpn.2015.03.008.

Budde, BS; Namavar, Y; Barth, PG; Poll-The, BT; Nurnberg, G; Becker, C; van Ruissen, F; (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; Ng, J; (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 open access
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Burns, J; Menezes, M; Finkel, RS; Estilow, T; Moroni, I; Pagliano, E; Laurá, M; (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) pp. 177-180. 10.1111/jns5.12024.

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

Burns, J; Ouvrier, R; Estilow, T; Shy, R; Laurá, M; Pallant, JF; Lek, M; (2012) Validation of the Charcot-Marie-Tooth disease pediatric scale as an outcome measure of disability. Ann Neurol , 71 (5) pp. 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) pp. 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) pp. 526-534. 10.1016/j.nmd.2004.05.006.

Byrne, S; Dlamini, N; Lumsden, D; Pitt, M; Zaharieva, I; Muntoni, F; King, A; (2015) SIL1-related Marinesco-Sjoegren syndrome (MSS) with associated motor neuronopathy and bradykinetic movement disorder. Neuromuscul Disord , 25 (7) pp. 585-588. 10.1016/j.nmd.2015.04.003.

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) pp. 513-522. 10.1016/j.nmd.2011.04.004.

Bönnemann, CG; Wang, CH; Quijano-Roy, S; Deconinck, N; Bertini, E; Ferreiro, A; Muntoni, F; (2014) Diagnostic approach to the congenital muscular dystrophies. Neuromuscul Disord , 24 (4) pp. 289-311. 10.1016/j.nmd.2013.12.011.

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; 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.

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.

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