UCL logo

UCL Discovery

UCL home » Library Services » Electronic resources » UCL Discovery

Browse by UCL Departments and Centres

Up a level
Export as [feed] Atom [feed] RSS 1.0 [feed] RSS 2.0
Group by: Author | Type
Jump to: A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | Y | Z
Number of items: 297.

A

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.

Ackroyd, MR; Whitmore, C; Nikolic, M; Mayer, U; Muntoni, F; Brown, SC; (2011) Novel insight in muscle and brain involvement in dystroglycanopathies. In: NEUROMUSCULAR DISORDERS. (pp. S6 - S6). PERGAMON-ELSEVIER SCIENCE LTD

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.

Alatzoglou, KS; Andoniadou, CL; Kelberman, D; Buchanan, CR; Crolla, J; Cristina Arriazu, M; Roubicek, M; ... Dattani, MT; + view all (2011) SOX2 haploinsufficiency is associated with slow progressing hypothalamo-pituitary tumours. HUMAN MUTATION , 32 (12) pp. 1376-1380. 10.1002/humu.21606.

Alexander, MS; Kawahara, G; Kho, AT; Howell, MH; Pusack, TJ; Myers, JA; Montanaro, F; ... Kunkel, LM; + view all (2011) ISOLATION AND TRANSCRIPTOME ANALYSIS OF ADULT ZEBRAFISH CELLS ENRICHED FOR SKELETAL MUSCLE PROGENITORS. MUSCLE & NERVE , 43 (5) pp. 741-750. 10.1002/mus.21972.

Aligianis, I; Handley, M; Carpanini, S; Bern, D; Yoshimura, S; Nunes-Bastos, R; Bond, F; ... Barr, F; + view all (2011) Micro and Martsolf Syndromes. In: JOURNAL OF MEDICAL GENETICS. (pp. S36 - S36). B M J PUBLISHING GROUP

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.

Andoniadou, CL; Signore, M; Young, RM; Gaston-Massuet, C; Wilson, SW; Fuchs, E; Martinez-Barbera, JP; (2011) HESX1-and TCF3-mediated repression of Wnt/beta-catenin targets is required for normal development of the anterior forebrain. DEVELOPMENT , 138 (22) 4931 - 4942. 10.1242/dev.066597.

Anthony, K; Cirak, S; Torelli, S; Tasca, G; Feng, L; Arechavala-Gomeza, V; Armaroli, A; ... Muntoni, F; + view all (2011) Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trials. BRAIN , 134 pp. 3544-3556. 10.1093/brain/awr291.

Anthony, K; Morgan, JE; Muntoni, F; (2011) Quantification of exon skipping in Duchenne muscular dystrophy by qRT-PCR. In: NEUROMUSCULAR DISORDERS. (pp. S7 - S7). PERGAMON-ELSEVIER SCIENCE LTD

Argyropoulos, GP; (2011) Cerebellar Theta-Burst Stimulation Selectively Enhances Lexical Associative Priming. CEREBELLUM , 10 (3) pp. 540-550. 10.1007/s12311-011-0269-y.

Argyropoulos, GP; Kimiskidis, VK; Papagiannopoulos, S; (2011) Theta-Burst Stimulation of the Right Neocerebellar Vermis Selectively Disrupts the Practice-Induced Acceleration of Lexical Decisions. BEHAVIORAL NEUROSCIENCE , 125 (5) pp. 724-734. 10.1037/a0025134.

Arthurs, OJ; Edwards, AD; Joubert, I; Graves, MJ; Set, PAK; Lomas, DJ; (2011) Interactive magnetic resonance voiding cystourethrography (iMRVC) for vesicoureteric reflux (VUR) in unsedated infants: a feasibility study. EUROPEAN RADIOLOGY , 21 (9) pp. 1874-1881. 10.1007/s00330-011-2124-4.

Arthurs, OJ; Gallagher, FA; (2011) Functional and molecular imaging with MRI: potential applications in paediatric radiology. PEDIATRIC RADIOLOGY , 41 (2) pp. 185-198. 10.1007/s00247-010-1842-0.

Asfahani, R; Meng, J; Muntoni, F; Morgan, JE; (2011) Human skeletal-muscle derived CD133+cells as a promising tool for cell therapy of Duchenne muscular dystrophy. In: NEUROMUSCULAR DISORDERS. (pp. S7 - S7). PERGAMON-ELSEVIER SCIENCE LTD

B

Baddeley, A; Jarrold, C; Vargha-Khadem, F; (2011) Working Memory and the Hippocampus. J COGNITIVE NEUROSCI , 23 (12) 3855 - 3861.

Baker, K; Chaddock, CA; Baldeweg, T; Skuse, D; (2011) Neuroanatomy in adolescents and young adults with 22q11 Deletion Syndrome: Comparison to an IQ-matched group. NEUROIMAGE , 55 (2) 491 - 499. 10.1016/j.neuroimage.2010.12.041.

Baker, K; Northam, GB; Chong, WK; Banks, T; Beales, P; Baldeweg, T; (2011) Neocortical and Hippocampal Volume Loss in a Human Ciliopathy: A Quantitative MRI Study in Bardet-Biedl Syndrome. AM J MED GENET A , 155A (1) 1 - 8. 10.1002/ajmg.a.33773.

Baker, K; Northam, GB; Chong, WK; Banks, T; Beales, P; Baldeweg, T; (2011) Neocortical and hippocampal volume loss in a human ciliopathy: A quantitative MRI study in Bardet-Biedl syndrome. Am J Med Genet A , 155A (1) pp. 1-8. 10.1002/ajmg.a.33773.

Banu, S; (2011) Experience of EMG in Dakha, Bangladesh. [Lecture]. Presented at: Eighth international paediatric Congress "Improving the use of EMG in paediatrics", Institute of child health, London,.

Barrett, T; Arthurs, OJ; (2011) Dual Innervation of Adductor Magnus. CLINICAL ANATOMY , 24 (6) p. 793. 10.1002/ca.21214.

Beastrom, N; Lu, H; Macke, A; Canan, BD; Johnson, EK; Penton, CM; Kaspar, BK; ... Montanaro, F; + view all (2011) mdx(5cv) Mice Manifest More Severe Muscle Dysfunction and Diaphragm Force Deficits than Do mdx Mice. AMERICAN JOURNAL OF PATHOLOGY , 179 (5) pp. 2464-2474. 10.1016/j.ajpath.2011.07.009.

Begent, J; Sebire, NJ; Levitt, G; Brock, P; Jones, KP; Ell, P; Gordon, I; (2011) Pilot study of F-18-Fluorodeoxyglucose Positron Emission Tomography/computerised tomography in Wilms' tumour: Correlation with conventional imaging, pathology and immunohistochemistry. EUR J CANCER , 47 (3) 389 - 396. 10.1016/j.ejca.2010.09.039.

Belsky, J; de Haan, M; (2011) Parenting and children's brain development: the end of the beginning. JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY , 52 (4) pp. 409-428. 10.1111/j.1469-7610.2010.02281.x.

Bem, D; Yoshimura, SI; Nunes-Bastos, R; Bond, FC; Kurian, MA; Rahman, F; Handley, MTW; ... Aligianis, IA; + view all (2011) Loss-of-Function Mutations in RAB18 Cause Warburg Micro Syndrome (vol 88, pg 499, 2011). AM J HUM GENET , 88 (5) 678 - 678. 10.1016/j.ajhg.2011.04.009.

Bem, D; Yoshimura, SI; Nunes-Bastos, R; Bond, FC; Kurian, MA; Rahman, F; Handley, MTW; ... Aligianis, IA; + view all (2011) Erratum: Loss-of-function mutations in RAB18 cause warburg micro syndrome (The American Journal of Human Genetics (2011) 88 (499-507)). American Journal of Human Genetics , 88 (5) 678-. 10.1016/j.ajhg.2011.04.009.

Bem, D; Yoshimura, SI; Nunes-Bastos, R; Bond, FF; Kurian, MA; Rahman, F; Handley, MTW; ... Aligianis, IA; + view all (2011) Loss-of-Function Mutations in RAB18 Cause Warburg Micro Syndrome. AM J HUM GENET , 88 (4) 499 - 507. 10.1016/j.ajhg.2011.03.012.

Berry, D; Hypponen, E; (2011) Determinants of vitamin D status: focus on genetic variations. CURR OPIN NEPHROL HY , 20 (4) 331 - 336. 10.1097/MNH.0b013e328346d6ba.

Berry, DJ; Hesketh, K; Power, C; Hyppoenen, E; (2011) Vitamin D status has a linear association with seasonal infections and lung function in British adults. BRITISH JOURNAL OF NUTRITION , 106 (9) pp. 1433-1440. 10.1017/S0007114511001991.

Berthouze, L; Mayston, M; (2011) Design and validation of surface-marker clusters for the quantification of joint rotations in general movements in early infancy. J BIOMECH , 44 (6) 1212 - 1215. 10.1016/j.jbiomech.2011.01.016.

Bhugra, D; Easter, A; Mallaris, Y; Gupta, S; (2011) Clinical decision making in psychiatry by psychiatrists. Acta Psychiatrica Scandinavica , 124 (5) pp. 403-411. 10.1111/j.1600-0447.2011.01737.x.

Binetti, N; Aiello, M; Merola, S; Bruschini, M; Lecce, F; Macci, E; Doricchi, F; (2011) Positive correlation in the bisection of long and short horizontal Oppel-Kundt illusory gradients: Implications for the interpretation of the "cross-over" effect in spatial neglect. Cortex , 47 (5) pp. 608-616. 10.1016/j.cortex.2010.08.003.

Blauwblomme, T; Ternier, J; Romero, C; Pier, KST; D'Argenzio, L; Pressler, R; Cross, H; (2011) Adverse Events Occurring During Invasive Electroencephalogram Recordings in Children. NEUROSURGERY , 69 (ARTN ons) pp. 169-175. 10.1227/NEU.0b013e3182181e7d.

Blumcke, I; Thom, M; Aronica, E; Armstrong, DD; Vinters, HV; Palmini, A; Jacques, TS; ... Spreafico, R; + view all (2011) The clinicopathologic spectrum of focal cortical dysplasias: A consensus classification proposed by an ad hoc Task Force of the ILAE Diagnostic Methods Commission. Epilepsia , 52 (1) 158 - 174. 10.1111/j.1528-1167.2010.02777.x.

Boldrin, L; Zammit, PS; Muntoni, F; Morgan, JE; (2011) The host muscle environment has got a profound effect on satellite cell function. In: NEUROMUSCULAR DISORDERS. (pp. S12 - S12). PERGAMON-ELSEVIER SCIENCE LTD

Bollini, S; Cheung, KK; Riegler, J; Dong, XB; Smart, N; Ghionzoli, M; Loukogeorgakis, SP; ... De Coppi, P; + view all (2011) Amniotic Fluid Stem Cells Are Cardioprotective Following Acute Myocardial Infarction. STEM CELLS DEV , 20 (11) 1985 - 1994. 10.1089/scd.2010.0424.

Bollini, S; Smart, N; Riley, PR; (2011) Resident cardiac progenitor cells: At the heart of regeneration. J MOL CELL CARDIOL , 50 (2) 296 - 303. 10.1016/j.yjmcc.2010.07.006.

Borrego, LM; Stocks, J; Almeida, I; Antunes, J; Leiria-Pinto, P; Pinto, JR; Hoo, AF; (2011) Spirometry in preschool age children with asthma: Repeatability and bronchial challenge test. Revista Portuguesa de Imunoalergologia , 19 (3) pp. 151-159.

Broser, P; Vargha-Khadem, F; Clark, CA; (2011) Robust subdivision of the thalamus in children based on probability distribution functions calculated from probabilistic tractography. NEUROIMAGE , 57 (2) 403 - 415. 10.1016/j.neuroimage.2011.04.054.

Burns, J; Finkel, R; Estilow, T; Hiscock, A; Laura, M; Swingle, P; Patzko, A; ... Shy, R; + view all (2011) Development, Reliability and Validity of the Charcot-Marie-Tooth Disease Pediatric Scale (CMTPedS). In: NEUROLOGY. (pp. A462 - A462). LIPPINCOTT WILLIAMS & WILKINS

Burns, J; Finkel, R; Estilow, T; Hiscock, A; Laura, M; Swingle, P; Patzko, A; ... Shy, ME; + view all (2011) DEVELOPMENT, RELIABILITY AND VALIDITY OF THE CHARCOT-MARIE-TOOTH DISEASE PEDIATRIC SCALE (CMTPEDS). In: JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM. (pp. S15 - S16). WILEY-BLACKWELL

Burns, J; Finkel, R; Estilow, T; Hiscock, A; Laura, M; Swingle, P; Patzko, A; ... Shy, ME; + view all (2011) FOOT AND ANKLE SYMMETRY IN CHARCOT-MARIE-TOOTH DISEASE. In: JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM. (pp. S16 - S16). WILEY-BLACKWELL

Byrnes, TJD; Barrick, TR; Bell, BA; Clark, CA; (2011) Diffusion tensor imaging discriminates between glioblastoma and cerebral metastases in vivo. NMR BIOMED , 24 (1) 54 - 60. 10.1002/nbm.1555.

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.

C

Carr, LJ; Gordon, A; Ganesan, V; (2011) Outcome after ischaemic stroke in childhood. In: Ganesan, V and Kirkham, FJ, (eds.) Stroke and cerebrovascular disease in childhood. MacKeith Press

Catarino, CB; Liu, JYW; Liagkouras, I; Gibbons, VS; Labrum, RW; Ellis, R; Woodward, C; ... Sisodiya, SM; + view all (2011) Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology. BRAIN , 134 2982 - 3010. 10.1093/brain/awr129. Gold open access

Cath, DC; Hedderly, T; Ludolph, AG; Stern, JS; Murphy, T; Hartmann, A; Czernecki, V; ... ESSTS Guidelines Group, ; + view all (2011) European clinical guidelines for Tourette syndrome and other tic disorders. Part I: assessment. Eur Child Adolesc Psychiatry , 20 (4) pp. 155-171. 10.1007/s00787-011-0164-6.

Chambers, JC; Zhang, WH; Sehmi, J; Li, XZ; Wass, MN; Van der Harst, P; Holm, H; ... Meta-Anal Glucose Insulin-Related, ; + view all (2011) Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. NAT GENET , 43 (11) 1131 - U129. 10.1038/ng.970.

Chan, S; Baldeweg, T; Cross, JH; (2011) A role for sleep disruption in cognitive impairment in children with epilepsy. EPILEPSY BEHAV , 20 (3) 435 - 440. 10.1016/j.yebeh.2010.12.047.

Chaudhary, UJ; Centeno, M; Carmichael, DW; Vollmar, C; Rodionov, R; Bonelli, S; Stretton, J; ... Koepp, M; + view all (2011) IMAGING THE INTERACTION: WORKING MEMORY, EPILEPTIC DISCHARGES AND PERFORMANCE. In: EPILEPSIA. (pp. 174 - 174). WILEY-BLACKWELL

Chimalapati, S; Cohen, J; Camberlein, E; Durmort, C; Baxendale, H; de Vogel, C; van Belkum, A; (2011) Infection with conditionally virulent Streptococcus pneumoniae Δpab strains induces antibody to conserved protein antigens but does not protect against systemic infection with heterologous strains. Infect Immun , 79 (12) pp. 4965-4976. 10.1128/IAI.05923-11.

Chin, RFM; Cumberland, PM; Pujar, SS; Peckham, C; Ross, EM; Scott, RC; (2011) Outcomes of childhood epilepsy at age 33 years: A population-based birth-cohort study. EPILEPSIA , 52 (8) 1513 - 1521. 10.1111/j.1528-1167.2011.03170.x.

Chugani, HT; Wilmshurst, J; Newton, CR; (2011) The role of ICNA in Africa. DEV MED CHILD NEUROL , 53 (5) 387 - 388. 10.1111/j.1469-8749.2011.03972.x.

Cirak, S; Arechavala-Gomeza, V; Guglieri, M; Feng, L; Torelli, S; Anthony, K; Abbs, S; ... 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; Arechavala-Gomeza, V; Guglieri, M; Feng, L; Torelli, S; Anthony, K; Garralda, ME; ... Muntoni, F; + view all (2011) Exon skipping and dystrophin restoration in Duchenne muscular dystrophy patients after systemic phosphorodiamidate morpholino oligomer treatment. In: NEUROMUSCULAR DISORDERS. (pp. S7 - S8). PERGAMON-ELSEVIER SCIENCE LTD

Clark, CA; Byrnes, T; (2011) DTI and tractography in neurosurgical planning. In: Jones, DK, (ed.) Diffusion MRI: Theory, Methods and Applications. Oxford University Press

Clayden, JD; Maniega, SM; Storkey, AJ; King, MD; Bastin, ME; Clark, CA; (2011) TractoR: Magnetic Resonance Imaging and Tractography with R. J STAT SOFTW , 44 (8) 1 - 18. Gold open access

Cohen, JM; Khandavilli, S; Camberlein, E; Hyams, C; Baxendale, HE; Brown, JS; (2011) Protective Contributions against Invasive Streptococcus pneumoniae Pneumonia of Antibody and Th17-Cell Responses to Nasopharyngeal Colonisation. PLoS.One , 6 (10) , Article e25558. 10.1371/journal.pone.0025558. Green open access
file

Cooper, JD; Smyth, DJ; Walker, NM; Stevens, H; Burren, OS; Wallace, C; Greissl, C; ... Todd, JA; + view all (2011) Inherited Variation in Vitamin D Genes Is Associated With Predisposition to Autoimmune Disease Type 1 Diabetes. DIABETES , 60 (5) 1624 - 1631. 10.2337/db10-1656.

Cooper, JM; Vargha-Khadem, F; Gadian, DG; Maguire, EA; (2011) The effect of hippocampal damage in children on recalling the past and imagining new experiences. NEUROPSYCHOLOGIA , 49 (7) 1843 - 1850. 10.1016/j.neuropsychologia.2011.03.008. Gold open access

Costa-Faidella, J; Baldeweg, T; Grimm, S; Escera, C; (2011) Interactions between "What" and "When" in the Auditory System: Temporal Predictability Enhances Repetition Suppression. JOURNAL OF NEUROSCIENCE , 31 (50) pp. 18590-18597. 10.1523/JNEUROSCI.2599-11.2011.

Cox, SC; L'Esperance, V; Makani, J; Soka, D; Hill, CM; Prentice, AM; Kirkham, FJ; (2011) Iron status and nocturnal oximetry in Tanzanian paediatric sickle cell anaemia patients. In: (Proceedings) 51st Annual Scientific Meeting of the British-Society-for-Haematology. (pp. p. 65). WILEY-BLACKWELL

Cox, SC; Makani, J; Soka, D; Newton, CR; Prentice, AM; Kirkham, FJ; (2011) Arginine to ornithine ratios in Tanzanian sickle cell anaemia patients at steady-state: a nested case control of deaths versus survivors. In: (Proceedings) 51st Annual Scientific Meeting of the British-Society-for-Haematology. (pp. p. 64). WILEY-BLACKWELL

Cox, SE; L'Esperance, V; Makani, J; Soka, D; Hill, CM; Kirkham, FJ; (2011) Nocturnal haemoglobin oxygen saturation variability is associated with vitamin C deficiency in Tanzanian children with sickle cell anaemia. ACTA PAEDIATR , 100 (4) 594 - 597. 10.1111/j.1651-2227.2010.02078.x.

Cox, SE; Makani, J; Fulford, AJ; Komba, AN; Soka, D; Williams, TN; Newton, CR; ... Prentice, AM; + view all (2011) Nutritional status, hospitalization and mortality among patients with sickle cell anemia in Tanzania. HAEMATOL-HEMATOL J , 96 (7) 948 - 953. 10.3324/haematol.2010.028167. Gold open access

Cox, SE; Makani, J; Komba, AN; Soka, D; Newton, CR; Kirkham, FJ; Prentice, AM; (2011) Global arginine bioavailability in Tanzanian sickle cell anaemia patients at steady-state: a nested case control study of deaths versus survivors. BRIT J HAEMATOL , 155 (4) 522 - 524. 10.1111/j.1365-2141.2011.08715.x.

Cross, JH; (2011) Epilepsy in the WHO European region: Fostering epilepsy care in Europe. EPILEPSIA , 52 (1) 188 - 188. 10.1111/j.1528-1167.2010.02903.x.

Cutajar, M; Clayden, JD; Clark, CA; Gordon, I; (2011) Test-retest reliability and repeatability of renal diffusion tensor MRI in healthy subjects. EUR J RADIOL , 80 (3) E263 - E268. 10.1016/j.ejrad.2010.12.018.

D

D'Argenzio, L; Colonnelli, MC; Harrison, S; Jacques, TS; Harkness, W; Vargha-Khadem, F; Scott, RC; (2011) Cognitive outcome after extratemporal epilepsy surgery in childhood. EPILEPSIA , 52 (11) 1966 - 1972. 10.1111/j.1528-1167.2011.03272.x.

Davies, EH; Seunarine, KK; Banks, T; Clark, CA; Vellodi, A; (2011) Brain white matter abnormalities in paediatric Gaucher Type I and Type III using diffusion tensor imaging. J INHERIT METAB DIS , 34 (2) 549 - 553. 10.1007/s10545-011-9288-6.

De Haan, M; (2011) The neuro-development of face perception. In: Calder, A and Rhodes, G and Haxby, J and Johnson, MH, (eds.) Handbook of face perception. (pp. 731-752). Oxford Unviersity Press: New York.

Desurkar, A; Mills, K; Pitt, M; Jan, W; Sinisi, M; Male, I; Wraige, E; (2011) Congenital lower brachial plexus palsy due to cervical ribs. Developmental medicine child neurology , 53 (2) pp. 188-190.

Dexter, DT; Statton, SA; Whitmore, C; Freinbichler, W; Weinberger, P; Tipton, KF; Della Corte, L; ... Crichton, RR; + view all (2011) Clinically available iron chelators induce neuroprotection in the 6-OHDA model of Parkinson’s disease after peripheral administration. Journal of Neural Transmission , 118 (2) pp. 223-231. 10.1007/s00702-010-0531-3.

Disanto, G; Handel, AE; Morahan, JM; Deluca, GC; Kimball, SM; Hypponen, E; Giovannoni, G; ... Ramagopalan, SV; + view all (2011) Vitamin D and multiple sclerosis hospital admissions in Scotland. QJM-INT J MED , 104 (11) 1001 - 1003. 10.1093/qjmed/hcr101.

Disanto, G; Ramagopalan, S; Morahan, J; Hypponen, E; Ebers, G; Chaplin, G; (2011) Gestational Ultraviolet and Vitamin D Exposure and the Risk of Multiple Sclerosis in the United Kingdom. In: NEUROLOGY. (pp. 198 - 198). LIPPINCOTT WILLIAMS & WILKINS

Dlamini, N; Voermans, NC; Lillis, S; Abbs, S; Kamsteeg, E; Al-Sarraj, S; Lammens, M; ... Jungbluth, H; + view all (2011) Mutations in the skeletal muscle ryanodine receptor (RYR1) gene presenting with exertional myalgia and rhabdomyolysis. In: NEUROMUSCULAR DISORDERS. (pp. 748 - 748). PERGAMON-ELSEVIER SCIENCE LTD

Doebroessy, M; Klein, A; Janghra, N; Nikkhah, G; Dunnett, SB; (2011) Validating the use of M4-BAC-GFP mice as tissue donors in cell replacement therapies in a rodent model of Huntington's disease. JOURNAL OF NEUROSCIENCE METHODS , 197 (1) pp. 6-13. 10.1016/j.jneumeth.2011.01.015.

Dong, R; Moulding, D; Himoudi, N; Adams, S; Bouma, G; Eddaoudi, A; Basu, BP; ... Anderson, J; + view all (2011) Cells with dendritic cell morphology and immunophenotype, binuclear morphology, and immunosuppressive function in dendritic cell cultures. Cell Immunol , 272 (1) pp. 1-10. 10.1016/j.cellimm.2011.09.012.

Dowling, JJ; Lillis, S; Amburgey, K; Zhou, HY; Al-Sarraj, S; Buk, SJA; Wraige, E; ... 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.

Drobnjak, I; Zhang, H; Hall, MG; Alexander, DC; (2011) The matrix formalism for generalised gradients with time-varying orientation in diffusion NMR. J MAGN RESON , 210 (1) 151 - 157. 10.1016/j.jmr.2011.02.022.

Drobnjak, I; Zhang, H; Hall, MG; Alexander, DC; (2011) The matrix formalism for generalised gradients with time-varying orientation in diffusion NMR. Journal of Magnetic Resonance , 210 (1) pp. 151-157. 10.1016/j.jmr.2011.02.022.

Duchen, MR; Heath, K; Baruch, NB; Hanna, MG; Muntoni, F; (2011) Dysregulation of calcium and mitochondrial function as potential therapeutic targets in muscle disease. In: NEUROMUSCULAR DISORDERS. (pp. S1 - S2). PERGAMON-ELSEVIER SCIENCE LTD

Dunkley, C; Kung, J; Scott, RC; Nicolaides, P; Neville, B; Aylett, SE; Harkness, W; (2011) Epilepsy surgery in children under 3 years. EPILEPSY RES , 93 (2-3) 96 - 106. 10.1016/j.eplepsyres.2010.11.002.

Durnford, AJ; Kirkham, FJ; Mathad, N; Sparrow, OCE; (2011) Endoscopic third ventriculostomy in the treatment of childhood hydrocephalus: validation of a success score that predicts long-term outcome. JOURNAL OF NEUROSURGERY-PEDIATRICS , 8 (5) pp. 489-493. 10.3171/2011.8.PEDS1166.

Durnford, AJ; Rodgers, W; Kirkham, FJ; Mullee, MA; Whitney, A; Prevette, M; Kintone, L; ... Gray, WP; + view all (2011) Very good inter-rater reliability of Engel and ILAE epilepsy surgery outcome classifications in a series of 76 patients. SEIZURE-EUROPEAN JOURNAL OF EPILEPSY , 20 (10) pp. 809-812. 10.1016/j.seizure.2011.08.004.

E

Easter, A; Tchanturia, K; (2011) Therapists' experiences of cognitive remediation therapy for anorexia nervosa: implications for working with adolescents. Clin Child Psychol Psychiatry , 16 (2) pp. 233-246. 10.1177/1359104511401185.

Easter, A; Treasure, J; Micali, N; (2011) Fertility and prenatal attitudes towards pregnancy in women with eating disorders: results from the Avon Longitudinal Study of Parents and Children. BJOG-AN INTERNATIONAL JOURNAL OF OBSTETRICS AND GYNAECOLOGY , 118 (12) pp. 1491-1498. 10.1111/j.1471-0528.2011.03077.x.

Edwards, AD; Arthurs, OJ; (2011) Paediatric MRI under sedation: is it necessary? What is the evidence for the alternatives? PEDIATRIC RADIOLOGY , 41 (11) pp. 1353-1364. 10.1007/s00247-011-2147-7.

Eleftheriou, D; Hong, Y; Klein, NJ; Ganesan, V; Brogan, PA; (2011) Endothelial injury and repair in childhood primary angiitis of the central nervous system. CLIN EXP RHEUMATOL , 29 (2) 445 - 445.

F

Farmer, S; Lorain, S; Thrasher, A; Garcia, L; Muntoni, F; Conti, F; (2011) Correction of FKRP function via RNA trans-splicing. In: NEUROMUSCULAR DISORDERS. (pp. S8 - S8). PERGAMON-ELSEVIER SCIENCE LTD

Farmer, S; Lorain, S; Thrasher, A; Garcia, L; Muntoni, F; Conti, F; (2011) Correction of FKRP function via RNA trans-splicing. In: NEUROMUSCULAR DISORDERS. (pp. 719 - 720). PERGAMON-ELSEVIER SCIENCE LTD

Fauth, C; Baumann, M; Giunta, C; Krabichler, B; Rueschendorf, F; Boennemann, CG; Bittner, RE; ... Zschocke, J; + view all (2011) CONGENITAL MYOPATHY EHLERS-DANLOS OVERLAP SYNDROME CAUSED BY THE DEFICIENCY OF AN ENZYME INVOLVED IN PROTEIN FOLDING IN THE ENDOPLASMIC RETICULUM: IDENTIFICATION AND CHARACTERIZATION OF A NOVEL DISORDER. In: (pp. S239-S239). SPRINGER

Feng, L; Phadke, R; Jungbluth, H; Lillis, S; Cullup, T; Chambers, D; Abbs, S; ... Sewry, C; + view all (2011) The spectrum of genetic defects responsible for congenital fibre type disproportion. In: NEUROMUSCULAR DISORDERS. (pp. S24 - S24). PERGAMON-ELSEVIER SCIENCE LTD

Feng, LH; Phadke, R; Lillis, S; Cullup, T; Chambers, D; Abbs, S; Muntoni, F; (2011) Pathological features resembling congenital fibre type disproportion linked to a number of different genetic defects. In: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. (pp. 30 - 31). WILEY-BLACKWELL PUBLISHING, INC

Feng, LH; Scoto, M; Phadke, R; Lillis, S; Cullup, T; Mein, R; Abbs, S; ... Sewry, CA; + view all (2011) Muscle pathology in a large cohort of cases with SEPN1 mutations. In: NEUROMUSCULAR DISORDERS. (pp. 695 - 696). PERGAMON-ELSEVIER SCIENCE LTD

Fernandez-Fuente, M; Terracciano, CM; Pilsworth, R; Muntoni, F; Brown, SC; Piercy, RJ; (2011) Characterisation of sarcoplasmic reticulum calcium release in equine and human myotubes derived from MyoD-transformed fibroblasts. In: NEUROMUSCULAR DISORDERS. (pp. 695 - 695). PERGAMON-ELSEVIER SCIENCE LTD

Field, JJ; Stocks, J; Kirkham, FJ; Rosen, CL; Dietzen, DJ; Semon, T; Kirkby, J; ... Strunk, RC; + view all (2011) Airway Hyperresponsiveness in Children With Sickle Cell Anemia. CHEST , 139 (3) 563 - 568. 10.1378/chest.10-1243.

Foley, AR; Quijano-Roy, S; Collins, J; Straub, V; Deconinck, N; Mercuri, E; D'Amico, A; ... Bonnemann, C; + view all (2011) The identification of a viable outcome measure in the collagen VI myopathies promotes progress toward clinical trials. In: NEUROMUSCULAR DISORDERS. (pp. 662 - 662). PERGAMON-ELSEVIER SCIENCE LTD

Foley, AR; Quijano-Roy, S; Collins, J; Straub, V; Deconinck, N; Mercuri, E; D'Amico, A; ... Bonnemann, C; + view all (2011) The identification of a viable outcome measure in the collagen VI myopathies promotes progress toward clinical trials. In: NEUROMUSCULAR DISORDERS. (pp. S24 - S24). PERGAMON-ELSEVIER SCIENCE LTD

Fong, CY; Rolfs, A; Schwarzbraun, T; Klein, C; O'Callaghan, FJK; (2011) Juvenile parkinsonism associated with heterozygous frameshift ATP13A2 gene mutation. EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY , 15 (3) pp. 271-275. 10.1016/j.ejpn.2011.01.001.

Forrest, KML; Al-Sarraj, S; Sewry, C; Buk, S; Tan, SV; Pitt, M; Durward, A; ... Wraige, E; + view all (2011) Infantile onset myofibrillar myopathy due to recessive CRYAB mutations. NEUROMUSCULAR DISORD , 21 (1) 37 - 40. 10.1016/j.nmd.2010.11.003.

G

Gaillard, WD; Cross, JH; Duncan, JS; Stefan, H; Theodore, WH; Commission Diagnostics, ; (2011) Epilepsy imaging study guideline criteria: Commentary on diagnostic testing study guidelines and practice parameters. EPILEPSIA , 52 (9) 1750 - 1756. 10.1111/j.1528-1167.2011.03155.x.

Ganesan, V; (2011) Cardiac disorders. In: Ganesan, V, (ed.) Stroke and cerebrovascular disease in childhood. MacKeith Press

Ganesan, V; (2011) Future directions. In: Ganesan, V and Kirkham, FJ, (eds.) Stroke and cerebrovascular disease in childhood. MacKeith Press

Ganesan, V; (2011) Intracranial haemorrhage in children. In: Ganesan, V and Kirkham, FJ, (eds.) Stroke and cerebrovascular disease in children. MacKeith Press

Ganesan, V; (2011) Recurrence after a first ischaemic stroke in childhood. In: Ganesan, V and Kirkham, FJ, (eds.) Stroke and cerebrovascular disease in childhood. MacKeith Press

Ganesan, V; Cox, TC; Gunny, R; (2011) Abnormalities of cervical arteries in children with arterial ischemic stroke. NEUROLOGY , 76 (2) 166 - 171.

Ganesan, V; Kirkham, FJ; (2011) Stroke and Cerebrovascular Disease in Childhood. [Book]. International Review of Child Neurology (MacKeith Press). MacKeith Press: UK.

Ganesan, V; Neville, BGR; (2011) Moyamoya syndrome. In: Ganesan, V and Kirkham, FJ, (eds.) Stroke and cerebrovascular disease in childhood. MacKeith Press

Garralda, ME; Kinali, M; Cirak, S; Bushby, K; Guglieri, M; Straub, V; Muntoni, F; (2011) Emotional impact of a paediatric exon-skipping therapy trial. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY , 53 (12) pp. 1157-1159. 10.1111/j.1469-8749.2011.04128.x.

Gaston-Massuet, C; Andoniadou, CL; Signore, M; Jayakody, SA; Charolidi, N; Kyeyune, R; Vernay, B; ... Martinez-Barbera, JP; + view all (2011) Increased Wingless (Wnt) signaling in pituitary progenitor/stem cells gives rise to pituitary tumors in mice and humans. Proceedings of the National Academy of Sciences of the United States of America , 108 (28) pp. 11482-11487. 10.1073/pnas.1101553108. Gold open access

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; 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.

Gona, JK; Mung'ala-Odera, V; Newton, CR; Hartley, S; (2011) Caring for children with disabilities in Kilifi, Kenya: what is the carer's experience? CHILD CARE HLTH DEV , 37 (2) 175 - 183. 10.1111/j.1365-2214.2010.01124.x.

Grech-Sollars, M; Saunders, D; Phipps, K; Clayden, JD; Clark, CA; (2011) SURVIVAL ANALYSIS FOR APPARENT DIFFUSION COEFFICIENT MEASURES IN CHILDREN WITH EMBRYONAL BRAIN TUMOURS. In: NEURO-ONCOLOGY. (pp. 4 - 4). OXFORD UNIV PRESS INC

H

Haan, MD; Gunnar, MR; (2011) Handbook of Developmental Social Neuroscience. Guilford Press

Hales, PW; Burton, RAB; Bollensdorff, C; Mason, F; Bishop, M; Gavaghan, D; Kohl, P; (2011) Progressive changes in T-1, T-2 and left-ventricular histo-architecture in the fixed and embedded rat heart. NMR IN BIOMEDICINE , 24 (7) pp. 836-843. 10.1002/nbm.1629.

Hall, NJ; Eaton, S; Pierro, A; (2011) Editorial on "Open Versus Laparoscopic Pyloromyotomy for Pyloric Stenosis: A Meta-Analysis of Randomized Controlled Trials" by Jia et al. EUR J PEDIATR SURG , 21 (2) 75 - 76. 10.1055/s-0031-1275323.

Hall, NJ; Jones, CE; Eaton, S; Stanton, MP; Burge, DM; (2011) Is interval appendicectomy justified after successful nonoperative treatment of an appendix mass in children? A systematic review. J PEDIATR SURG , 46 (4) 767 - 771. 10.1016/j.jpedsurg.2011.01.019.

Hall, NJ; Ron, O; Eaton, S; Pierro, A; (2011) Surgery for hydrocele in children-an avoidable excess? JOURNAL OF PEDIATRIC SURGERY , 46 (12) pp. 2401-2405. 10.1016/j.jpedsurg.2011.07.029.

Halsey, C; Buck, G; Richards, S; Vargha-Khadem, F; Hill, F; Gibson, B; (2011) The impact of therapy for childhood acute lymphoblastic leukaemia on intelligence quotients; results of the risk-stratified randomized central nervous system treatment trial MRC UKALL XI. JOURNAL OF HEMATOLOGY & ONCOLOGY , 4 (ARTN 42) 10.1186/1756-8722-4-42.

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

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

Hayman, R; Verriotis, MA; Jovalekic, A; Fenton, AA; Jeffery, KJ; (2011) Anisotropic encoding of three-dimensional space by place cells and grid cells. Nature neuroscience , 14 (9) 1182 -1188. 10.1038/nn.2892.

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.

Heywood, W; Mills, KA; Carreno, G; Mills, PB; Worthington, V; Clayton, PT; Muntoni, F; (2011) IDENTIFICATION OF C1INHIBITOR AS A POTENTIAL BIOMARKER FOR N- AND O-LINKED CONGENITAL DISORDERS OF GLYCOSYLATION (CDG). In: (pp. S182-S182). SPRINGER

Holmstrom, L; Lennartsson, F; Eliasson, A-C; Flodmark, O; Clark, C; Tedroff, K; Forssberg, H; (2011) Diffusion MRI in corticofugal fibers correlates with hand function in unilateral cerebral palsy. NEUROLOGY , 77 (8) pp. 775-783. 10.1212/WNL.0b013e31822b0040.

Hulbert, ML; McKinstry, RC; Lacey, JL; Moran, CJ; Panepinto, JA; Thompson, AA; Sarnaik, SA; ... DeBaun, MR; + view all (2011) Silent cerebral infarcts occur despite regular blood transfusion therapy after first strokes in children with sickle cell disease. BLOOD , 117 (3) pp. 772-779. 10.1182/blood-2010-01-261123.

Hurley, NC; Maguire, EA; Vargha-Khadem, F; (2011) Patient HC with developmental amnesia can construct future scenarios. Neuropsychologia , 49 (13) 3620 - 3628. 10.1016/j.neuropsychologia.2011.09.015. Gold open access

Hyppoenen, E; (2011) Preventing Vitamin D Deficiency in Pregnancy - Importance for the Mother and Child. ANNALS OF NUTRITION AND METABOLISM , 59 (1) pp. 28-31. 10.1159/000332072.

Hypponen, E; Boucher, B; (2011) Reference intakes of vitamin D Need to be implemented in UK. BRIT MED J , 342 , Article d444. 10.1136/bmj.d444.

Hypponen, E; Fararouei, M; Sovio, U; Hartikainen, A; Pouta, A; Robertson, C; Whittaker, JC; (2011) Hligh-Dose Vitamin D Supplements Are Not Associated with Linear Growth in a Large Finnish Cohort. J NUTR , 141 (5) 843 - 848. 10.3945/jn.110.133009.

Hyppönen, E; Boucher, B; (2011) Reference intakes of vitamin D: Need to be implemented in UK. BMJ , 342 d444-. 10.1136/bmj.d444.

I

Illingworth, MA; Hanrahan, D; Anderson, CE; O'Kane, K; Anderson, J; Casey, M; de Sousa, C; ... Kurian, MA; + view all (2011) Elevated VGKC-complex antibodies in a boy with fever-induced refractory epileptic encephalopathy in school-age children (FIRES). DEV MED CHILD NEUROL , 53 (11) 1053 - 1057. 10.1111/j.1469-8749.2011.04008.x.

J

Joanna, P; Jungbluth, H; Fatter, C; Bailey, EMFV; Crisponi, G; Feng, L; Zeviani, M; ... Uusimaa, J; + view all (2011) Reversible Infantile Respiratory Chain Deficiency is a Genetically Heterogenous Mitochondrial Disease. In: JOURNAL OF MEDICAL GENETICS. (pp. S35 - S35). B M J PUBLISHING GROUP

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; Sewry, CA; Muntoni, F; (2011) Core Myopathies. SEMINARS IN PEDIATRIC NEUROLOGY , 18 (4) pp. 239-249. 10.1016/j.spen.2011.10.005.

K

Kandasamy, J; Dwan, K; Hartley, JC; Jenkinson, MD; Hayhurst, C; Gatscher, S; Thompson, D; ... Mallucci, C; + view all (2011) Antibiotic-impregnated ventriculoperitoneal shunts--a multi-centre British paediatric neurosurgery group (BPNG) study using historical controls. Childs Nerv Syst , 27 (4) pp. 575-581. 10.1007/s00381-010-1290-z.

Karadag, IE; Bishop, M; Hales, PW; Schneider, JE; Kohl, P; Gavaghan, D; Grau, V; (2011) Regionally Optimised Mathematical Models of Cardiac Myocyte Orientation in Rat Hearts. FUNCTIONAL IMAGING AND MODELING OF THE HEART , 6666 pp. 294-301.

Kariuki, SM; Rockett, K; Clark, TG; Reyburn, H; Agbenyega, T; Taylor, TE; Williams, TN; (2011) HUMAN GENETIC POLYMORPHISMS AND THE RISK OF MALARIA-ASSOCIATED SEIZURES IN AFRICAN POPULATIONS. In: EPILEPSIA. (pp. 92 - 92). WILEY-BLACKWELL

Kilpeläinen, TO; Qi, L; Brage, S; Sharp, SJ; Sonestedt, E; Demerath, E; Ahmad, T; ... Loos, RJ; + view all (2011) Physical activity attenuates the influence of FTO variants on obesity risk: a meta-analysis of 218,166 adults and 19,268 children. PLoS Medicine , 8 (11) , Article e1001116. 10.1371/journal.pmed.1001116. Green open access
file

Kim, J; Anthony, K; Cloke, V; Yau, M; Abbs, S; Morgan, JE; (2011) The feasibility of exon skipping to restore the reading frame in DMD patients with duplications. In: NEUROMUSCULAR DISORDERS. (pp. S8 - S9). PERGAMON-ELSEVIER SCIENCE LTD

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

King, MD; Calamante, F; Clark, CA; Gadian, D; (2011) Markov Chain Monte Carlo Random Effects Modeling in Magnetic Resonance Image Processing Using the BRugs Interface to WinBUGS. J STAT SOFTW , 44 (2) 1 - 23. Gold open access

Kirkby, JC; Bonner, R; Lum, S; Bates, P; Morgan, V; Strunk, R; Kirkham, F; ... Stocks, J; + view all (2011) INTERPRETATION OF PLETHYSMOGRAPHY IN HEALTHY YOUNG CHILDREN. In: (Proceedings) Winter Meeting of the British-Thoracic-Society. (pp. A122-A123). B M J PUBLISHING GROUP

Kirkham, F; (2011) Cavtat meeting Cardiac arrest and post resuscitation of the brain. EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY , 15 (5) pp. 379-389. 10.1016/j.ejpn.2011.04.009.

Kirkham, FJ; Bhadresha, R; McSwiggan, J; Darekar, A; (2011) Brain T2-weighted signal intensity ratio in children with sickle cell disease with and without stroke. In: (Proceedings) 51st Annual Scientific Meeting of the British-Society-for-Haematology. (pp. pp. 64-65). WILEY-BLACKWELL

Kirkham, FJ; Haywood, P; Kashyape, P; Borbone, J; Lording, A; Pryde, K; Cox, M; ... Kipps, CM; + view all (2011) Movement disorder emergencies in childhood. EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY , 15 (5) 390 - 404. 10.1016/j.ejpn.2011.04.005.

Kirkham, FJ; Salmon, AP; Khambadkone, S; (2011) A hole in the heart: a hole in the head? ARCH DIS CHILD , 96 (5) 409 - 410. 10.1136/adc.2010.208470.

Kirton, A; Armstrong-Wells, J; Chang, T; deVeber, G; Rivkin, MJ; Hernandez, M; Carpenter, J; ... Ferriero, DM; + view all (2011) Symptomatic Neonatal Arterial Ischemic Stroke: The International Pediatric Stroke Study. PEDIATRICS , 128 (6) E1402-E1410. 10.1542/peds.2011-1148.

Kleen, JK; Sesque, A; Wu, EX; Miller, FA; Hernan, AE; Holmes, GL; Scott, RC; (2011) Early-life seizures produce lasting alterations in the structure and function of the prefrontal cortex. EPILEPSY BEHAV , 22 (2) 214 - 219. 10.1016/j.yebeh.2011.07.022.

Kleen, JK; Wu, EX; Holmes, GL; Scott, RC; Lenck-Santini, PP; (2011) Enhanced Oscillatory Activity in the Hippocampal-Prefrontal Network Is Related to Short-Term Memory Function after Early-Life Seizures. J NEUROSCI , 31 (43) 15397 - 15406. 10.1523/JNEUROSCI.2196-11.2011.

Klein, A; Jungbluth, H; Clement, E; Lillis, S; Abbs, S; Munot, P; Pane, M; ... 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; Oprea, I; Scoto, M; Robb, S; Manzur, A; Straub, V; ... Muntoni, F; + view all (2011) Clinical and genetic findings in a large cohort of patients with congenital myopathies due to mutations in the skeletal muscle ryanodine receptor (RYR1) gene. In: NEUROMUSCULAR DISORDERS. (pp. 694 - 694). PERGAMON-ELSEVIER SCIENCE LTD

Koo, T; Malerba, A; Athanasopoulos, T; Trollet, C; Boldrin, L; Ferry, A; Popplewell, L; ... Dickson, G; + view all (2011) Delivery of AAV2/9-Microdystrophin Genes Incorporating Helix 1 of the Coiled-Coil Motif in the C-Terminal Domain of Dystrophin Improves Muscle Pathology and Restores the Level of alpha 1-Syntrophin and alpha-Dystrobrevin in Skeletal Muscles of mdx Mice. HUMAN GENE THERAPY , 22 (11) pp. 1379-1388. 10.1089/hum.2011.020.

Kowalik, G; Steeden, JA; Pandya, B; Atkinson, D; Taylor, AM; Muthurangu, V; (2011) A heterogeneous image reconstruction system for clinical Magnetic Resonance. In: (Proceedings) UK GPU Computing Conference.

Kurian, MA; Gissen, P; Smith, M; Heales, SJR; Clayton, PT; (2011) The monoamine neurotransmitter disorders: an expanding range of neurological syndromes. LANCET NEUROL , 10 (8) 721 - 733.

Kurian, MA; Li, Y; Zhen, JA; Meyer, E; Hai, N; Christen, HJ; Hoffmann, GF; ... Maher, ER; + view all (2011) Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study. LANCET NEUROL , 10 (1) 54 - 62. 10.1016/S1474-4422(10)70269-6.

Kurian, MA; McNeill, A; Lin, JP; Maher, ER; (2011) Childhood disorders of neurodegeneration with brain iron accumulation (NBIA). DEV MED CHILD NEUROL , 53 (5) 394 - 404. 10.1111/j.1469-8749.2011.03955.x.

L

Lanham-New, SA; Buttriss, JL; Miles, LM; Ashwell, M; Berry, JL; Boucher, BJ; Cashman, KD; ... Williams, CM; + view all (2011) Proceedings of the Rank Forum on Vitamin D. Br J Nutr , 105 (1) pp. 144-156. 10.1017/S0007114510002576.

Lanham-New, SA; Lambert, H; Tripkovic, L; Smith, CP; Bucca, G; Hart, K; Penson, S; ... Vieth, R; + view all (2011) Vitamin D-2 v. vitamin D-3 supplementation in raising 25OHD status: preliminary findings of a meta-analysis. PROCEEDINGS OF THE NUTRITION SOCIETY , 70 (OCE3) E94-E94. 10.1017/S0029665111001340.

Lasaponara, S; Chica, AB; Lecce, F; Lupianez, J; Doricchi, F; (2011) ERP evidence for selective drop in attentional costs in uncertain environments: challenging a purely premotor account of covert orienting of attention. Neuropsychologia , 49 (9) pp. 2648-2657. 10.1016/j.neuropsychologia.2011.05.012.

Lawes, INC; Clark, CA; (2011) Anatomical validation of DTI and tractography. In: Jones, DK, (ed.) Diffusion MRI: Theory, Methods and Applications. (pp. 439-447). Oxford University Press

Leblanc, E; Trensz, F; Haroun, S; Drouin, G; Bergeron, E; Penton, CM; Montanaro, F; ... Grenier, G; + view all (2011) BMP-9-Induced Muscle Heterotopic Ossification Requires Changes to the Skeletal Muscle Microenvironment. JOURNAL OF BONE AND MINERAL RESEARCH , 26 (6) pp. 1166-1177. 10.1002/jbmr.311.

Lee, J; Nandi, P; (2011) Early aggressive treatment improves prognosis in complex regional pain syndrome. Practitioner , 255 (1736) pp. 23-3.

Liegeois, F; Morgan, AT; Connelly, A; Vargha-Khadem, F; (2011) Endophenotypes of FOXP2: Dysfunction within the human articulatory network. EUR J PAEDIATR NEURO , 15 (4) 283 - 288. 10.1016/j.ejpn.2011.04.006.

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.

Liu, JYW; Catarino, CB; Liagkouras, I; Labrum, R; Davis, M; Woodward, C; Cross, JH; ... Sisodiya, SM; + view all (2011) Neuropathology of Dravet syndrome. In: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. (pp. 25 - 26). WILEY-BLACKWELL PUBLISHING, INC

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

Loseth, S; Lillis, S; Torbergsen, T; Jonsrud, C; Lindal, S; Maddison, P; Muntoni, F; ... Jungbluth, H; + view all (2011) An adult-onset, slowly progressive axial myopathy with cataracts due to mutations in the skeletal muscle ryanodine receptor (RYR1) gene. In: NEUROMUSCULAR DISORDERS. (pp. 695 - 695). PERGAMON-ELSEVIER SCIENCE LTD

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.

Lucas, MM; Lenck-Santini, PP; Holmes, GL; Scott, RC; (2011) Impaired cognition in rats with cortical dysplasia: additional impact of early-life seizures. BRAIN , 134 1684 - 1693. 10.1093/brain/awr087.

Luevano, ME; Pedroza-Pacheco, I; Derniame, S; Escobedo-Cousin, MH; Madrigal, JA; Saudemont, A; (2011) Generation of natural killer cells from cord blood stem cells, characterization and application for immunotherapy. In: (Proceedings) Annual Congress of the British-Society-for-Immunology. (pp. p. 187). WILEY-BLACKWELL

M

Mackay, MT; Wiznitzer, M; Benedict, SL; Lee, KJ; deVeber, GA; Ganesan, V; Int Pediat Stroke Study Grp, ; (2011) Arterial Ischemic Stroke Risk Factors: The International Pediatric Stroke Study. ANN NEUROL , 69 (1) 130 - 140. 10.1002/ana.22224.

Maggi, L; Scoto, M; Cirak, S; Feng, L; Lillis, S; Cullup, T; Robb, S; ... Muntoni, F; + view all (2011) Congenital myopathies - clinical features and frequency of individual subtypes diagnosed in a five-year period: the UK experience. In: NEUROMUSCULAR DISORDERS. (pp. 691 - 691). PERGAMON-ELSEVIER SCIENCE LTD

Main, ML; Selby, V; Muntoni, F; (2011) The effect of joint hypermobility on children with neuromuscular disorders: Considerations for natural history studies and the interpretation of outcome measures. In: NEUROMUSCULAR DISORDERS. (pp. 643 - 644). PERGAMON-ELSEVIER SCIENCE LTD

Makani, J; Cox, SE; Soka, D; Komba, AN; Magaya, J; Rwezaula, S; Meda, E; ... Kirkham, F; + view all (2011) Neurological events and abnormalities in SCD cohort in Tanzania. In: (Proceedings) 51st Annual Scientific Meeting of the British-Society-for-Haematology. (pp. p. 41). WILEY-BLACKWELL

Makani, J; Cox, SE; Soka, D; Komba, AN; Magesa, P; Rwezaula, S; Meda, E; ... Roberts, DJ; + view all (2011) Mortality in sickle cell anaemia in Africa: rates and risk factors from a prospective cohort study in Tanzania. In: (Proceedings) 51st Annual Scientific Meeting of the British-Society-for-Haematology. (pp. p. 27). WILEY-BLACKWELL

Makani, J; Cox, SE; Soka, D; Komba, AN; Oruo, J; Mwamtemi, H; Magesa, P; ... Newton, CR; + view all (2011) Mortality in Sickle Cell Anemia in Africa: A Prospective Cohort Study in Tanzania. PLOS ONE , 6 (2) , Article e14699. 10.1371/journal.pone.0014699. Green open access
file

Makani, J; Menzel, S; Nkya, S; Cox, SE; Drasar, E; Soka, D; Komba, AN; ... Thein, SL; + view all (2011) Genetics of fetal hemoglobin in Tanzanian and British patients with sickle cell anemia. BLOOD , 117 (4) 1390 - 1392. 10.1182/blood-2010-08-302703.

Malerba, A; Boldrin, L; Dickson, G; (2011) Long-Term Systemic Administration of Unconjugated Morpholino Oligomers for Therapeutic Expression of Dystrophin by Exon Skipping in Skeletal Muscle: Implications for Cardiac Muscle Integrity. NUCLEIC ACID THER , 21 (4) 293 - 298. 10.1089/nat.2011.0306.

Malerba, A; Sharp, PS; Graham, IR; Arechavala-Gomeza, V; Foster, K; Muntoni, F; Wells, DJ; (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.

Malfatti, E; Martinez, VG; Von der Hagen, M; Chabalier, D; Quijano-Roy, S; David, O; Moghadaszadeh, B; ... Ferreiro, A; + view all (2011) Phenotype, Genetics and Natural History in 146 Patients with SEPN1-Related Myopathy: On the Way to Therapeutic Trials in a Rare Disorder. In: NEUROLOGY. (pp. A363 - A363). LIPPINCOTT WILLIAMS & WILKINS

Mallick, AA; Ganesan, V; Kirkham, FJ; Fallon, P; Hedderly, T; McShane, T; Parker, AP; ... O'Callaghan, FJ; + view all (2011) A Population Based Study Of The Outcome One Year After Childhood Arterial Ischemic Stroke. In: STROKE. (pp. E98 - E98). LIPPINCOTT WILLIAMS & WILKINS

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

Mariot, V; Wu, JY; Aydin, C; Mantovani, G; Mahon, MJ; Linglart, A; Bastepe, M; (2011) Potent constitutive cyclic AMP-generating activity of XL alpha s implicates this imprinted GNAS product in the pathogenesis of McCune-Albright Syndrome and fibrous dysplasia of bone. BONE , 48 (2) pp. 312-320. 10.1016/j.bone.2010.09.032.

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.

Maupetit-Mehouas, S; Mariot, V; Reynes, C; Bertrand, G; Feillet, F; Carel, J-C; Simon, D; ... Linglart, A; + view all (2011) Quantification of the methylation at the GNAS locus identifies subtypes of sporadic pseudohypoparathyroidism type Ib. JOURNAL OF MEDICAL GENETICS , 48 (1) pp. 55-63. 10.1136/jmg.2010.081356.

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.

Mazzone, E; Bianco, F; Martinelli, D; Glanzman, AM; Messina, S; De Sanctis, R; Main, M; ... 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.

Mbuba, CK; Ngugi, AK; Muchohi, SN; Edwards, T; Odermatt, P; Carter, JA; Newton, CR; (2011) THE RISK FACTORS FOR EPILEPSY TREATMENT GAP AND NONADHERENCE TO ANTIEPILEPTIC DRUGS IN KILIFI, KENYA. In: EPILEPSIA. (pp. 13 - 13). WILEY-BLACKWELL

McHugh, JC; Robb, SA; MANZUR, AY; Beeson, D; Muntoni, F; Pitt, MC; (2011) Diagnostic accuracy of stimulation single fibre EMG findings in children with DOK7 congenital myasthenic syndrome. Presented at: Annual meeting of the European paediatric neurology Society, Cavtat Croatia.

McTague, A; Appleton, R; (2011) Treatment of difficult epilepsy. Archives of Disease in Childhood , 96 (2) pp. 200-204. 10.1136/adc.2010.174557.

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 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; Bushby, K; McDonald, C; Goemans, N; Muntoni, F; Darras, BT; Elfring, GL; ... Peltz, SW; + view all (2011) Disease progression observed in clinical outcome measures in placebo-treated patients with nonsense mutation dystrophinopathy. In: NEUROMUSCULAR DISORDERS. (pp. 651 - 651). PERGAMON-ELSEVIER SCIENCE LTD

Meremikwu, MM; Okomo, U; (2011) Sickle cell disease. In: UNSPECIFIED

Meyer, E; Kurian, MA; Morgan, NV; McNeill, A; Pasha, S; Tee, L; Younis, R; ... Maher, ER; + view all (2011) Promoter mutation is a common variant in GJC2-associated Pelizaeus-Merzbacher-like disease. MOLECULAR GENETICS AND METABOLISM , 104 (4) pp. 637-643. 10.1016/j.ymgme.2011.08.032.

Mohamed, BP; Scott, RC; Desai, N; Gutta, P; Patil, S; (2011) Seizure outcome in infantile spasms-A retrospective study. EPILEPSIA , 52 (4) 746 - 752. 10.1111/j.1528-1167.2010.02963.x.

Monjauze, C; Broadbent, H; Boyd, SG; Neville, BGR; Baldeweg, T; (2011) Language deficits and altered hemispheric lateralization in young people in remission from BECTS. EPILEPSIA , 52 (8) E79 - E83. 10.1111/j.1528-1167.2011.03105.x.

Montanaro, F; Martin, PT; (2011) Defective glycosylation of dystroglycan in muscular dystrophy and cancer. In: UNSPECIFIED (pp. 119-143).

Morgan, AT; Liegeois, F; Liederkerke, C; Vogel, AP; Hayward, R; Harkness, W; Chong, K; (2011) Role of cerebellum in fine speech control in childhood: Persistent dysarthria after surgical treatment for posterior fossa tumour. BRAIN LANG , 117 (2) 69 - 76. 10.1016/j.bandl.2011.01.002.

Morgan, JE; (2011) Satellite cells and skeletal muscle regeneration. In: NEUROMUSCULAR DISORDERS. (pp. 640 - 640). PERGAMON-ELSEVIER SCIENCE LTD

Muller, T; Cirak, S; Parton, M; Lunn, M; Hanna, MG; Muntoni, F; (2011) An integrative database for clinical and research studies in neuromuscular diseases. In: NEUROMUSCULAR DISORDERS. (pp. S29 - S29). PERGAMON-ELSEVIER SCIENCE LTD

Munot, P; Crow, YJ; Ganesan, V; (2011) Paediatric stroke: genetic insights into disease mechanisms and treatment targets. LANCET NEUROL , 10 (3) 264 - 274.

Munot, P; De Vile, C; Hemingway, C; Gunny, R; Ganesan, V; (2011) Severe iron deficiency anaemia and ischaemic stroke in children. ARCH DIS CHILD-FETAL , 96 (3) pp. 276-279. 10.1136/adc.2010.189241.

Munot, P; Saunders, D; Ganesan, V; (2011) Characteristics of Childhood Arterial Ischemic Stroke With Normal MR Angiography. STROKE , 42 (2) 504 - 506. 10.1161/STROKEAHA.110.594390.

Munoz, M; Chadwick, M; Perez-Hernandez, E; Vargha-Khadem, F; Mishkin, M; (2011) Novelty preference in patients with developmental amnesia. HIPPOCAMPUS , 21 (12) pp. 1268-1276. 10.1002/hipo.20836.

Muntoni, F; (2011) Antisense therapy of muscular dystrophies. In: JOURNAL OF NEUROLOGY. (pp. 5 - 5). SPRINGER HEIDELBERG

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

Murphy, SM; Davidson, GL; Laura, M; Salih, MAM; Muntoni, F; Lunn, MP; Blake, J; ... Reilly, MM; + view all (2011) GENETIC MUTATION FREQUENCY IN PATIENTS WITH HEREDITARY SENSORY AND AUTONOMIC NEUROPATHIES (HSAN). In: JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM. (pp. S93 - S93). WILEY-BLACKWELL

Muses, S; Morgan, JE; Wells, DJ; (2011) A New Extensively Characterised Conditionally Immortal Muscle Cell-Line for Investigating Therapeutic Strategies in Muscular Dystrophies. PLOS ONE , 6 (9) , Article e24826. 10.1371/journal.pone.0024826. Green open access
file

N

Naatanen, R; Kujala, T; Kreegipuu, K; Carlson, S; Escera, C; Baldeweg, T; Ponton, C; (2011) The mismatch negativity: an index of cognitive decline in neuropsychiatric and neurological diseases and in ageing. BRAIN , 134 pp. 3432-3450. 10.1093/brain/awr064.

Neal, A; Boldrin, L; Morgan, JE; (2011) Age and sex related differences in satellite cell number, proliferation and self renewal. In: NEUROMUSCULAR DISORDERS. (pp. S12 - S12). PERGAMON-ELSEVIER SCIENCE LTD

Ng, J; Ganesan, V; (2011) Expert opinion on emerging drugs in childhood arterial ischemic stroke. EXPERT OPINION ON EMERGING DRUGS , 16 (2) pp. 363-372. 10.1517/14728214.2011.565050.

Ngugi, AK; Kariuki, SM; Bottomley, C; Kleinschmidt, I; Sander, JW; Newton, CR; (2011) Incidence of epilepsy A systematic review and meta-analysis. NEUROLOGY , 77 (10) 1005 - 1012. 10.1212/WNL.0b013e31822cfc90.

Nguyen, T; Hoo, A; Thia, LP; Wade, A; Ahmed, D; Lum, S; Balfour-Lynn, I; ... Stocks, J; + view all (2011) FORCED EXPIRATORY FLOWS AND VOLUMES IMPROVE BY ONE YEAR OF AGE IN INFANTS WITH CF DIAGNOSED BY NEWBORN SCREENING. PEDIATR PULM 242 - 242.

Northam, GB; Liegeois, F; Chong, WK; Wyatt, JS; Baldeweg, T; (2011) Total Brain White Matter Is a Major Determinant of IQ in Adolescents Born Preterm. ANN NEUROL , 69 (4) 702 - 711. 10.1002/ana.22263.

O

O'Callaghan, FJK; Lux, AL; Darke, K; Edwards, SW; Hancock, E; Johnson, AL; Kennedy, CR; ... Osborne, JP; + view all (2011) The effect of lead time to treatment and of age of onset on developmental outcome at 4 years in infantile spasms: Evidence from the United Kingdom Infantile Spasms Study. EPILEPSIA , 52 (7) pp. 1359-1364. 10.1111/j.1528-1167.2011.03127.x.

Ono, Y; Calhabeu, F; Morgan, JE; Katagiri, T; Amthor, H; Zammit, PS; (2011) BMP signalling permits population expansion by preventing premature myogenic differentiation in muscle satellite cells. CELL DEATH DIFFER , 18 (2) 222 - 234. 10.1038/cdd.2010.95.

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 open access
file

P

Pang, D; Thompson, DNP; (2011) Embryology and bony malformations of the craniovertebral junction. Childs Nerv Syst , 27 (4) pp. 523-564. 10.1007/s00381-010-1358-9.

Payne, NE; Cross, JH; Sander, JW; Sisodiya, SM; (2011) The ketogenic and related diets in adolescents and adults-A review. EPILEPSIA , 52 (11) pp. 1941-1948. 10.1111/j.1528-1167.2011.03287.x.

Peall, KJ; Waite, AJ; Kurian, MA; Hedderly, T; Smith, M; Lin, J-P; King, MD; ... Morris, HR; + view all (2011) Clinical and genetic spectrum of myoclonus dystonia syndrome. In: (Proceedings) 15th International Congress of Parkinsons Disease and Movement Disorders. (pp. S315-S316). WILEY-BLACKWELL

Perry, MM; Hui, CK; Whiteman, M; Wood, ME; Adcock, I; Kirkham, P; Michaeloudes, C; (2011) Hydrogen sulfide inhibits proliferation and release of IL-8 from human airway smooth muscle cells. Am J Respir Cell Mol Biol , 45 (4) pp. 746-752. 10.1165/rcmb.2010-0304OC.

Pitceathly, RDS; He, J; Foley, AR; Muntoni, F; Pearson, N; Hanna, MG; (2011) Whole genome analysis in a family with dominant muscle disease. In: NEUROMUSCULAR DISORDERS. (pp. S25 - S25). PERGAMON-ELSEVIER SCIENCE LTD

Pitt, M; (2011) Paediatric electromyography in the modern world: a personal view. Dev Med Child Neurol , 53 (2) pp. 120-124. 10.1111/j.1469-8749.2010.03831.x.

Pitt, MC; (2011) EMG in children under two years of age. [Lecture]. Presented at: Ninth Congress of the European paediatric neurology society, Cavtat, Croatia.

Pitt, MC; (2011) An introduction to SPACE. [Lecture]. Presented at: Eighth international paediatric Congress "Improving the use of EMG in paediatrics", Institute of child health, London.

Pitt, MC; (2011) The use of electromyography in the diagnosis and management of paediatric sciatic nerve palsy. [Lecture]. Presented at: Eighth international paediatric Congress "Improving the use of EMG in paediatrics", Institute of child health, London.

Pitt, MC; Kinali, M; (2011) Disproportionate diaphragmatic weakness in the neonate. [Lecture]. Presented at: Eighth international paediatric Congress "Improving the use of EMG in paediatrics", Institute of child health, London.

Power, C; Pouliou, T; Li, L; Cooper, R; Hyppoenen, E; (2011) Parental and offspring adiposity associations: Insights from the 1958 British birth cohort. ANNALS OF HUMAN BIOLOGY , 38 (4) pp. 390-399. 10.3109/03014460.2011.591827.

Pujar, SS; Neville, BGR; Scott, RC; Chin, RFM; N London Epilepsy Res Network, ; (2011) Death within 8 years after childhood convulsive status epilepticus: a population-based study. BRAIN , 134 2819 - 2827. 10.1093/brain/awr239.

Q

Qasim, W; Derniame, S; Gilmour, K; Chiesa, R; Weber, M; Adams, S; Rao, K; ... Gaspar, H; + view all (2011) Third-party virus-specific T cells eradicate adenoviraemia but trigger bystander graft-versus-host disease. BRIT J HAEMATOL , 154 (1) 150 - 153. 10.1111/j.1365-2141.2011.08579.x.

Quinlivan, R; Nishino, I; Mitsuahashi, S; Ayoyama, C; Sewry, C; Muntoni, F; Cirak, S; ... Straub, V; + view all (2011) Myopathy associated with mutations in CHKB in three UK patients. In: NEUROMUSCULAR DISORDERS. (pp. 697 - 697). PERGAMON-ELSEVIER SCIENCE LTD

R

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.

Remboutsika, E; Elkouris, M; Iulianella, A; Andoniadou, CL; Poulou, M; Mitsiadis, TA; Trainor, PA; (2011) Flexibility of neural stem cells. FRONTIERS IN PHYSIOLOGY , 2 (ARTN 16) 10.3389/fphys.2011.00016. Gold open access

Reza, M; Laval, S; Morgan, JE; Muntoni, F; Bushby, K; Straub, V; Lochmuller, H; (2011) Optimal dystrophin mini-construct for gene delivery to skeletal muscle. In: NEUROMUSCULAR DISORDERS. (pp. S9 - S9). PERGAMON-ELSEVIER SCIENCE LTD

Richardson, C; Hogan, AM; Bucks, RS; Baya, A; Virues-Ortega, J; Holloway, JW; Rose-Zerilli, M; ... Baldeweg, T; + view all (2011) Neurophysiological evidence for cognitive and brain functional adaptation in adolescents living at high altitude. CLIN NEUROPHYSIOL , 122 (9) 1726 - 1734. 10.1016/j.clinph.2011.02.001.

Ricotti, V; Manzur, AY; Scott, E; Muntoni, F; NorthStar CN, ; (2011) Benefits and adverse effects of glucocorticoids in boys with Duchenne Muscular Dystrophy. In: NEUROMUSCULAR DISORDERS. (pp. 705 - 706). PERGAMON-ELSEVIER SCIENCE LTD

Ricotti, V; Manzur, AY; Scott, E; Muntoni, F; NorthStar Clinical Network, ; (2011) Benefits and adverse effects of glucocorticoids in boys with Duchenne muscular dystrophy: a UK perspective. In: NEUROMUSCULAR DISORDERS. (pp. S30 - S30). PERGAMON-ELSEVIER SCIENCE LTD

Ricotti, V; Roberts, RG; Muntoni, F; (2011) Dystrophin and the brain. DEV MED CHILD NEUROL , 53 (1) 12 - 12. 10.1111/j.1469-8749.2010.03836.x.

Riley, PR; Smart, N; (2011) Vascularizing the heart. CARDIOVASC RES , 91 (2) 260 - 268. 10.1093/cvr/cvr035.

Robb, SA; Sewry, CA; Dowling, JJ; Feng, L; Cullup, T; Lillis, S; Abbs, S; ... Muntoni, F; + view all (2011) Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies. NEUROMUSCULAR DISORD , 21 (6) 379 - 386. 10.1016/j.nmd.2011.02.012.

S

Sadek, A-R; Kirkham, F; Barker, S; Gray, WP; Allen, D; (2011) Seizure-induced miosis. EPILEPSIA , 52 (12) E199-E203. 10.1111/j.1528-1167.2011.03310.x.

Santhanakrishnan, VK; Berry, DJ; Hingorani, AD; Whittaker, JC; Jarvelin, MR; Hypponen, E; (2011) Obesity is a Causal Risk Factor For Low Vitamin D Status: A Bi-Directional Mendelian Randomization Study on 40,000 Individuals. In: OBESITY. (pp. S231 - S231). NATURE PUBLISHING GROUP

Saunders, D; Chong, WK; Ganesan, V; (2011) Physiological MR imaging techniques and pediatric stroke. In: Clinical MR Neuroimaging: Physiological and Functional Techniques, Second Edition. (pp. 784-797).

Schottlaender, LV; Brand, P; Moschini, JA; Ameriso, SF; (2011) Cerebrovascular Events during Pregnancy, Delivery, and Puerperium. In: (Proceedings) 63rd AAN Annual Meeting. (pp. A425-A425). LIPPINCOTT WILLIAMS & WILKINS

Schottlaender, LV; Bruno, VA; Moschini, JA; Correale, J; Ameriso, SF; (2011) Retinocochleocerebral Vasculopathy (Susac's Syndrome). In: (Proceedings) 63rd AAN Annual Meeting. (pp. A424-A424). LIPPINCOTT WILLIAMS & WILKINS

Schulze, K; Mueller, K; Koelsch, S; (2011) Neural correlates of strategy use during auditory working memory in musicians and non-musicians. EUR J NEUROSCI , 33 (1) 189 - 196. 10.1111/j.1460-9568.2010.07470.x.

Schulze, K; Zysset, S; Mueller, K; Friederici, AD; Koelsch, S; (2011) Neuroarchitecture of Verbal and Tonal Working Memory in Nonmusicians and Musicians. HUMAN BRAIN MAPPING , 32 (5) pp. 771-783. 10.1002/hbm.21060.

Scoto, M; Cirak, S; Mein, R; Feng, L; Manzur, AY; Robb, S; Childs, A-M; ... Muntoni, F; + view all (2011) SEPN1-related myopathies Clinical course in a large cohort of patients. NEUROLOGY , 76 (24) pp. 2073-2078. 10.1212/WNL.0b013e31821f467c.

Scoto, M; Cirak, S; Mein, R; Feng, L; Manzur, AY; Robb, S; Childs, AM; ... Muntoni, F; + view all (2011) SEPN1 related myopathies: Clinical course in a large cohort of patients. In: NEUROMUSCULAR DISORDERS. (pp. S26 - S26). PERGAMON-ELSEVIER SCIENCE LTD

Scott, RC; Richard, GR; Holmes, GL; Lenck-Santini, PP; (2011) Maturational Dynamics of Hippocampal Place Cells in Immature Rats. HIPPOCAMPUS , 21 (4) 347 - 353. 10.1002/hipo.20789.

Seshia, SS; Bingham, WT; Kirkham, FJ; Sadanand, V; (2011) Nontraumatic Coma in Children and Adolescents: Diagnosis and Management. NEUROLOGIC CLINICS , 29 (4) 1007-+. 10.1016/j.ncl.2011.07.011.

Sewry, C; Jungbluth, H; Feng, L; Muntoni, F; (2011) The pathological spectrum associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene. In: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. (pp. 30 - 30). WILEY-BLACKWELL PUBLISHING, INC

Sewry, C; Jungbluth, H; Feng, L; Muntoni, F; (2011) The pathological spectrum associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene. In: NEUROMUSCULAR DISORDERS. (pp. S26 - S26). PERGAMON-ELSEVIER SCIENCE LTD

Shrewsbury, SB; Cirak, S; Guglieri, M; Bushby, K; Muntoni, F; (2011) Safety, Pharmacokinetic and Exploratory Efficacy of AVI-4658 a Phosphorodiamidate Morpholino Oligomer (PMO) To Skip Exon 51 in Duchenne Muscular Dystrophy Patients. In: NEUROLOGY. (pp. A451 - A451). LIPPINCOTT WILLIAMS & WILKINS

Shrewsbury, SB; Sazani, P; Muntoni, F; (2011) Comparative pharmacokinetics (PK) in primates and humans of AVI-4658, a phosphorodiamidate morpholino oligomer (PMO) for treating DMD patients. In: NEUROMUSCULAR DISORDERS. (pp. 644 - 644). PERGAMON-ELSEVIER SCIENCE LTD

Skirrow, C; Cross, JH; Cormack, F; Harkness, W; Vargha-Khadem, F; Baldeweg, T; (2011) Long-term intellectual outcome after temporal lobe surgery in childhood. NEUROLOGY , 76 (15) 1330 - 1337. Gold open access

Smart, N; Bollini, S; Dube, KN; Vieira, JM; Zhou, B; Davidson, S; Yellon, D; ... Riley, PR; + view all (2011) De novo cardiomyocytes from within the activated adult heart after injury. NATURE , 474 (7353) 640 - U117. 10.1038/nature10188.

Smith, SE; Kirkham, FJ; Deveber, G; Millman, G; Dirks, PB; Wirrell, E; Telfeian, AE; ... Ichord, R; + view all (2011) Outcome following decompressive craniectomy for malignant middle cerebral artery infarction in children. DEV MED CHILD NEUROL , 53 (1) 29 - 33. 10.1111/j.1469-8749.2010.03775.x.

Sorge, RE; LaCroix-Fralish, ML; Tuttle, AH; Sotocinal, SG; Austin, J-S; Ritchie, J; Chanda, ML; ... Mogil, JS; + view all (2011) Spinal cord Toll-like receptor 4 mediates inflammatory and neuropathic hypersensitivity in male but not female mice. J Neurosci , 31 (43) pp. 15450-15454. 10.1523/JNEUROSCI.3859-11.2011.

Spagnoli, C; Pitt, MC; Josifova, D; (2011) Successful treatment of Fazio Londe disease/Brown-Vialetto-van-Laere syndrome with riboflavin. In: (Proceedings) Annual Meeting of the British Paediatric Neurology Association. (pp. 40-).

Spagnoli, C; Pitt, MC; Josifova, D; (2011) Successful treatment of Fazio Londe disease/Brown-Vialetto-van-Laere syndrome with riboflavin. Presented at: Annual Meeting of the British Paediatric Neurology Association, London.

Stevens, E; Torelli, S; Tinsley, J; Muntoni, F; (2011) The versatility of flow cytometry in the assessment of functional alpha-dystroglycan glycosylation. In: NEUROMUSCULAR DISORDERS. (pp. 665 - 665). PERGAMON-ELSEVIER SCIENCE LTD

Straub, V; Aartsma-Rus, A; Szigyarto, CAK; Beroud, C; Bonaldo, P; Borgiani, P; Braghetta, P; ... Ferlini, A; + view all (2011) BIO-NMD: Discovery and validation of biomarkers for neuromuscular diseases (NMDs) - An EU funded FP7 project. In: NEUROMUSCULAR DISORDERS. (pp. 657 - 657). PERGAMON-ELSEVIER SCIENCE LTD

T

Tabelow, K; Clayden, JD; de Micheaux, PL; Polzehl, J; Schmid, VJ; Whitcher, B; (2011) Image analysis and statistical inference in neuroimaging with R. NEUROIMAGE , 55 (4) 1686 - 1693. 10.1016/j.neuroimage.2011.01.013.

Telfer, PT; Evanson, J; Butler, P; Hemmaway, C; Abdulla, C; Gadong, N; Whitmarsh, S; ... Kirkham, FJ; + view all (2011) Cervical carotid artery disease in sickle cell anemia: clinical and radiological features. BLOOD , 118 (23) pp. 6192-6199. 10.1182/blood-2011-03-337915.

Thompson, DNP; (2011) Comment on: The value of post-operative MR in tethered cord: a review of 140 cases by P. David Halevi, Suhas Udayakumaran, Liat Ben-Sira, Shlomi Constantini. Childs Nerv Syst , 27 (12) pp. 2167-2168. 10.1007/s00381-011-1584-9.

Thyoka, M; Eaton, S; Kiely, EM; Curry, JI; Drake, DP; Cross, KMK; Hall, NJ; ... Pierro, A; + view all (2011) Outcomes of diverting jejunostomy for severe necrotizing enterocolitis. J PEDIATR SURG , 46 (6) 1041 - 1044. 10.1016/j.jpedsurg.2011.03.024.

Tosetti, M; Linsalata, S; Battini, R; Volpi, L; Cini, C; Presciutti, O; Muntoni, F; ... Siciliano, G; + view all (2011) MUSCLE METABOLIC ALTERATIONS ASSESSED BY 31-PHOSPHORUS MAGNETIC RESONANCE SPECTROSCOPY IN MILD BECKER MUSCULAR DYSTROPHY. MUSCLE NERVE , 44 (5) 816 - 819. 10.1002/mus.22181.

Trang, T; Beggs, S; Salter, MW; (2011) Brain-derived neurotrophic factor from microglia: a molecular substrate for neuropathic pain. Neuron Glia Biol , 7 (1) pp. 99-108. 10.1017/S1740925X12000087.

Treves, S; Vukcevic, M; Jeannet, PY; Levano, S; Girard, T; Urwyler, A; Fischer, D; ... Zorzato, F; + view all (2011) Corrigendum: Enhanced excitation-coupled Ca<sup>2+</sup> entry induces nuclear translocation of NFAT and contributes to IL-6 release from myotubes from patients with central core disease. Human Molecular Genetics , 20 (10) 2079-. 10.1093/hmg/ddr083.

Treves, S; Vukcevic, M; Jeannet, PY; Levano, S; Girard, T; Urwyler, A; Fischer, D; ... Zorzato, F; + view all (2011) Enhanced excitation-coupled Ca2+ entry induces nuclear translocation of NFAT and contributes to IL-6 release from myotubes from patients with central core disease. HUM MOL GENET , 20 (3) 589 - 600. 10.1093/hmg/ddq506.

Treves, S; Vukcevic, M; Jeannet, PY; Levano, S; Girard, T; Urwyler, A; Fischer, D; ... Zorzato, F; + view all (2011) Enhanced excitation-coupled Ca2+ entry induces nuclear translocation of NFAT and contributes to IL-6 release from myotubes from patients with central core disease (vol 20, pg 589, 2011). HUM MOL GENET , 20 (10) 2079 - 2079. 10.1093/hmg/ddr083.

Trump, N; Cullup, T; Muntoni, F; Verheij, J; Jungbluth, H; (2011) X-linked myotubular myopathy due to a complex rearrangement involving exon 10 of the myotubularin (MTM1) gene. In: NEUROMUSCULAR DISORDERS. (pp. 693 - 693). PERGAMON-ELSEVIER SCIENCE LTD

U

Uusimaa, J; Jungbluth, H; Fratter, C; Bailey, EMFV; Crisponi, BG; Feng, L; Zeviani, M; ... Poulton, J; + view all (2011) Reversible infantile respiratory chain deficiency is a genetically heterogenous mitochondrial disease. In: NEUROMUSCULAR DISORDERS. (pp. S22 - S22). PERGAMON-ELSEVIER SCIENCE LTD

Uusimaa, J; Jungbluth, H; Fratter, C; Crisponi, G; Feng, L; Zeviani, M; Hughes, I; ... Poulton, J; + view all (2011) Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease. J MED GENET , 48 (10) 660 - 668. 10.1136/jmg.2011.089995.

V

Verdellen, C; van de Griendt, J; Hartmann, A; Murphy, T; ESSTS Guidelines Group, ; (2011) European clinical guidelines for Tourette syndrome and other tic disorders. Part III: behavioural and psychosocial interventions. Eur Child Adolesc Psychiatry , 20 (4) pp. 197-207. 10.1007/s00787-011-0167-3.

Vieira, JM; Riley, PR; (2011) Epicardium-derived cells: a new source of regenerative capacity. HEART , 97 (1) 15 - 19. 10.1136/hrt.2010.193292.

Vijaykumara, K; Rockett, J; Ryan, M; Harris, R; Pitt, MC; Devile, C; (2011) Bulbar EMG in evaluation of paediatric neurogenic dysphagia. Presented at: EPNS 2011 9th Congress of the European Paediatric Neurology Society, Cavtat, Croatia.

Virues-Ortega, J; Bucks, R; Kirkham, FJ; Baldeweg, T; Baya-Botti, A; Hogan, AM; Bolivian Children Living Altitude, ; (2011) Changing patterns of neuropsychological functioning in children living at high altitude above and below 4000 m: a report from the Bolivian Children Living at Altitude (BoCLA) study. DEVELOPMENTAL SCI , 14 (5) 1185 - 1193. 10.1111/j.1467-7687.2011.01064.x.

W

Walker, SM; Grafe, M; Yaksh, TL; (2011) Sublethal Spinal Ketamine Produces Neuronal Apoptosis in Rat Pups Reply. ANESTHESIOLOGY , 114 (3) 719 - 721. 10.1097/ALN.0b013e31820a86b3.

Ward, M; Berry, DJ; Power, C; Hypponen, E; (2011) Working patterns and vitamin D status in mid-life: a cross-sectional study of the 1958 British birth cohort. OCCUP ENVIRON MED , 68 (12) 902 - 907. 10.1136/oem.2010.063479.

Wardlaw, JM; Bastin, ME; Hernandez, MCV; Maniega, SM; Royle, NA; Morris, Z; Clayden, JD; ... Deary, IJ; + view all (2011) Brain aging, cognition in youth and old age and vascular disease in the Lothian Birth Cohort 1936: rationale, design and methodology of the imaging protocol. INTERNATIONAL JOURNAL OF STROKE , 6 (6) pp. 547-559. 10.1111/j.1747-4949.2011.00683.x.

Whitmore, C; Ackroyd, MR; Ashraf, A; Alyoshkin, B; Muntoni, F; Brown, SC; (2011) Generation of a new mouse model for therapeutic testing in the dystroglycanopathies. In: NEUROMUSCULAR DISORDERS. (pp. 664 - 664). PERGAMON-ELSEVIER SCIENCE LTD

Whitmore, C; Ackroyd, MR; Muses, S; Ashraf, A; Muntoni, F; Brown, SC; Wells, DJ; (2011) Assessing the therapeutic potential of LARGE in a new mouse model of dystroglycanopathy. In: NEUROMUSCULAR DISORDERS. (pp. 665 - 665). PERGAMON-ELSEVIER SCIENCE LTD

Wilson, RJ; Cohen, JM; Hyams, C; van Wamel, WJ; de Vogel, C; van Belkum, A; Gordon, SB; (2011) ANTI-PROTEIN SEROLOGICAL RESPONSES TO STREPTOCOCCUS PNEUMONIAE, IN DIVERSE POPULATIONS. In: (Proceedings) Winter Meeting of the British-Thoracic-Society. (pp. A58-A59). B M J PUBLISHING GROUP

Wong, LJ; Kupferman, JC; Prohovnik, I; Kirkham, FJ; Goodman, S; Paterno, K; Sharma, M; ... Pavlakis, SG; + view all (2011) Hypertension Impairs Vascular Reactivity in the Pediatric Brain. STROKE , 42 (7) 1834 - 1838. 10.1161/STROKEAHA.110.607606.

Worth, A; Conyers, R; Cohen, J; Jagani, M; Chiesa, R; Rao, K; Goulden, N; ... Amrolia, PJ; + view all (2011) Pre-emptive rituximab based on viraemia and T cell reconstitution: a highly effective strategy for the prevention of Epstein-Barr virus-associated lymphoproliferative disease following stem cell transplantation. BRIT J HAEMATOL , 155 (3) 377 - 385. 10.1111/j.1365-2141.2011.08855.x.

Y

Yates, JRW; MacLean, C; Higgins, JNP; Humphrey, A; le Marechal, K; Clifford, M; Carcani-Rathwell, I; ... Bolton, PF; + view all (2011) The Tuberous Sclerosis 2000 Study: presentation, initial assessments and implications for diagnosis and management. ARCHIVES OF DISEASE IN CHILDHOOD , 96 (11) 1020-U139. 10.1136/adc.2011.211995.

Yis, U; Uyanik, G; Heck, PB; Smitka, M; Nobel, H; Ebinger, F; Dirik, E; ... Morris-Rosendahl, DJ; + view all (2011) Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: Less severe mutations predominate in patients with a non-Walker-Warburg phenotype. NEUROMUSCULAR DISORD , 21 (1) 20 - 30. 10.1016/j.nmd.2010.08.007.

Z

Zabaneh, D; Gaunt, TR; Kumari, M; Drenos, F; Shah, S; Berry, D; Power, C; ... Humphries, SE; + view all (2011) Genetic Variants Associated with von Willebrand Factor Levels in Healthy Men and Women Identified Using the HumanCVD BeadChip. ANN HUM GENET , 75 456 - 467. 10.1111/j.1469-1809.2011.00654.x.

Zaharieva, I; Cirak, S; Morgan, JE; Muntoni, F; (2011) Identifying genomic pre-clinical biomarkers for diagnostics and therapeutics of Duchenne muscular dystrophy. In: NEUROMUSCULAR DISORDERS. (pp. S9 - S9). PERGAMON-ELSEVIER SCIENCE LTD

This list was generated on Sun May 26 07:36:39 2019 BST.