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                             101 results found
no title author magazine year volume issue page(s) type
1 Author index 2011
 21 S1 p. S31-S33
3 p.
 article
2 Editorial Board 2011
 21 S1 p. i-
1 p.
 article
3 O18 A new mouse model of ALS carrying a point mutation in the mouse Sod1 gene Joyce, P.
 2011
 21 S1 p. S6-
1 p.
 article
4 O12 Assessing muscle pathology by MRI in LGMD2I Willis, T.
 2011
 21 S1 p. S4-S5
2 p.
 article
5 O08 Characterisation of novel mutations within heat shock protein 27 causing motor axonopathies Innes, A.
 2011
 21 S1 p. S3-
1 p.
 article
6 O05 Clinical trials in peripheral neuropathies – where have we got? Hughes, R.
 2011
 21 S1 p. S2-
1 p.
 article
7 O06 Contribution of animal models to the pathogenesis and treatment of inherited neuropathies Sereda, M.W.
 2011
 21 S1 p. S2-S3
2 p.
 article
8 O02 Developing therapies for human mitochondrial diseases Murphy, M.
 2011
 21 S1 p. S1-
1 p.
 article
9 O03 Dysregulation of calcium and mitochondrial function as potential therapeutic targets in muscle disease Duchen, M.R.
 2011
 21 S1 p. S1-S2
2 p.
 article
10 O14 Magnetic resonance imaging in the non-dystrophic myotonias Morrow, J.M.
 2011
 21 S1 p. S5-
1 p.
 article
11 O16 Mouse models of SMA: implications for the timing and delivery of therapy Talbot, K.
 2011
 21 S1 p. S5-S6
2 p.
 article
12 O07 Neuregulin-1 is required for axoglial signalling following peripheral nerve injury to ensure normal re-myelination and functional recovery Flicker, F.R.
 2011
 21 S1 p. S3-
1 p.
 article
13 O04 New molecular targets in hereditary neuropathies Timmerman, V.
 2011
 21 S1 p. S2-
1 p.
 article
14 O17 Novel insight in muscle and brain involvement in dystroglycanopathies Ackroyd, M.R.
 2011
 21 S1 p. S6-
1 p.
 article
15 O15 Outcome measures in the mdx mouse Wells, P.
 2011
 21 S1 p. S5-
1 p.
 article
16 O01 Preventing transmission of mitochondrial disease Turnbull, P.M.
 2011
 21 S1 p. S1-
1 p.
 article
17 O10 Quantitative magnetic resonance imaging of neuromuscular diseases in adults Thornton, J.S.
 2011
 21 S1 p. S4-
1 p.
 article
18 O11 Quantitative MRI in FSHD and DMD Kan, H.
 2011
 21 S1 p. S4-
1 p.
 article
19 O13 Skeletal muscle MRI-determined fat fraction and myometric strength in inclusion body myositis and Charcot-Marie-Tooth disease Type 1A Sinclair, C.D.J.
 2011
 21 S1 p. S5-
1 p.
 article
20 O09 The Second Morgan-Hughes-Thomas Lecture: The genetics of motor neuron disease: from molecules to medicines Brown Jr., R.H.
 2011
 21 S1 p. S3-S4
2 p.
 article
21 P06 AAV-U7snRNA mediated multi exon-skipping for Duchenne muscular dystrophy Goyenvalle, A.
 2011
 21 S1 p. S8-
1 p.
 article
22 P45 A clinical study of the hereditary neuropathies due to mutations in the small heat shock proteins Rossor, A.
 2011
 21 S1 p. S18-S19
2 p.
 article
23 P40 A family with a TRPV4 related neuropathy displays marked phenotypic variability ranging from profound neuromuscular disability to non-penetrance Aharoni, S.
 2011
 21 S1 p. S17-
1 p.
 article
24 P63 A founder mutation in Anoctamin 5 is a major cause of limb girdle muscular dystrophy Hicks, P.
 2011
 21 S1 p. S24-S25
2 p.
 article
25 P22 Age and sex related differences in satellite cell number, proliferation and self renewal Neal, A.
 2011
 21 S1 p. S12-
1 p.
 article
26 P54 A3243G – more than just MELAS! Nesbitt, V.
 2011
 21 S1 p. S21-
1 p.
 article
27 P48 Analysis of mitochondrial DNA mutant loads in oocytes & preimplantation embryos for the 14709T>C & 14487T>C mtDNA mutations by pyrosequencing Irving, L.
 2011
 21 S1 p. S19-S20
2 p.
 article
28 P78 An integrative database for clinical and research studies in neuromuscular diseases Müller, T.
 2011
 21 S1 p. S29-
1 p.
 article
29 P74 An MRI study of the effects of metoprolol on in vivo cardiac calcium homeostasis Blain, A.
 2011
 21 S1 p. S28-
1 p.
 article
30 P71 A randomised, double-blinded, placebo-controlled pilot study assessing the safety and tolerability of Arimoclomol in sporadic inclusion body myositis (IBM) Machado, P.
 2011
 21 S1 p. S27-
1 p.
 article
31 P11 A reduction in the expression of Fukutin-related protein leads to the altered deposition of multiple laminin alpha chains in a mouse model for Muscle Eye Brain disease Ackroyd, M.R.
 2011
 21 S1 p. S9-S10
2 p.
 article
32 P28 Assessing the efficacy of Mexiletine in UK patients with non-dystrophic myotonia Rayan, D.L. Raja
 2011
 21 S1 p. S14-
1 p.
 article
33 P81 Benefits and adverse effects of glucocorticoids in boys with Duchenne muscular dystrophy: a UK perspective Ricotti, V.
 2011
 21 S1 p. S30-
1 p.
 article
34 P38 Charcot-Marie-Tooth disease and related disorders: a natural history study Laurá, M.
 2011
 21 S1 p. S17-
1 p.
 article
35 P34 Clinical phenotype and novel mutations in Alsin related motorneuron disease Cirak, S.
 2011
 21 S1 p. S15-S16
2 p.
 article
36 P04 Correction of FKRP function via RNA trans-splicing Farmer, S.
 2011
 21 S1 p. S8-
1 p.
 article
37 P17 Deposition of the inner limiting membrane in the eye of a mouse model for Muscle Eye Brain disease Whitmore, C.
 2011
 21 S1 p. S11-
1 p.
 article
38 P51 Diabetes is a risk factor for hypertension in adults with the m.3243A>G mitochondrial DNA mutation Nesbitt, V.
 2011
 21 S1 p. S20-S21
2 p.
 article
39 P52 Diabetes is not a common feature in children with mtDNA disease Nesbitt, V.
 2011
 21 S1 p. S21-
1 p.
 article
40 P60 Dominant and recessive RRM2B mutations cause familial PEO and multiple nit DNA deletions in muscle Fratter, C.
 2011
 21 S1 p. S23-
1 p.
 article
41 P25 Double-blind, placebo-controlled, parallel group, phase III study comparing dichlorphenamide vs. placebo for the treatment of periodic paralysis (HYP HOP trial) Burge, J.
 2011
 21 S1 p. S13-
1 p.
 article
42 P21 ErbB3 binding protein-1 (Ebp1) contributes to the control of proliferation and differentiation in adult muscle satellite cells Figeac, N.
 2011
 21 S1 p. S12-
1 p.
 article
43 P50 Exercise training in patients with mitochondrial myopathy: the analysis of COX-intermediate fibres Murphy, J.L.
 2011
 21 S1 p. S20-
1 p.
 article
44 P03 Exon skipping and dystrophin restoration in Duchenne muscular dystrophy patients after systemic phosphorodiamidate morpholino oligomer treatment Cirak, S.
 2011
 21 S1 p. S7-S8
2 p.
 article
45 P23 Fluorescent receptors to light up the neuromuscular junction Cossins, J.
 2011
 21 S1 p. S12-S13
2 p.
 article
46 P44 Frequency and circumstances of falls for adults with Charcot-Marie-Tooth disease Ramdharry, G.M.
 2011
 21 S1 p. S18-
1 p.
 article
47 P66 Functional investigation of beta-tropomyosin mutations that cause congenital skeletal myopathies Piers, A.
 2011
 21 S1 p. S25-S26
2 p.
 article
48 P19 Generating stable FKRP mutant zebrafish lines with zinc finger nucleases Wood, A.J.
 2011
 21 S1 p. S11-S12
2 p.
 article
49 P12 Generation of a new mouse model for therapeutic testing in the dystroglycanopathies Whitmore, C.
 2011
 21 S1 p. S10-
1 p.
 article
50 P24 Genetic heterogeneity and mechanisms of phenotypic variability in human skeletal muscle channelopathies – a new S4 mutation not associated with HypoPP Durran, S.
 2011
 21 S1 p. S13-
1 p.
 article
51 P43 Genetic modifying factors for the common form of CMT1A due to the chromosome 17 duplication and other causes of CMT1 in non-CMT1A patients Pandraud, A.
 2011
 21 S1 p. S18-
1 p.
 article
52 P41 Genetic mutation frequency in patients with hereditary sensory and autonomic neuropathies (HSAN) Murphy, S.M.
 2011
 21 S1 p. S17-S18
2 p.
 article
53 P29 Genotype-phenotype correlation and longitudinal study of Andersen-Tawil Syndrome in the UK Rayan, D.L. Raja
 2011
 21 S1 p. S14-
1 p.
 article
54 P27 Genotype-phenotype correlation and longitudinal three year natural history study in the non-dystrophic myotonias in the UK Rayan, D.L. Raja
 2011
 21 S1 p. S14-
1 p.
 article
55 P02 Human skeletal-muscle derived CD133+ cells as a promising tool for cell therapy of Duchenne muscular dystrophy Asfahani, R.
 2011
 21 S1 p. S7-
1 p.
 article
56 P10 Identifying genomic pre-clinical biomarkers for diagnostics and therapeutics of Duchenne muscular dystrophy Zaharieva, I.
 2011
 21 S1 p. S9-
1 p.
 article
57 P33 Impaired neurotransmission in a mouse model of the slow channel congenital myasthenic syndrome is improved by the sympathomimetic drug ephedrine Webster, R.
 2011
 21 S1 p. S15-
1 p.
 article
58 P77 Improved magnetization transfer MRI of skeletal muscle in myopathy and neuropathy Sinclair, C.D.J.
 2011
 21 S1 p. S29-
1 p.
 article
59 P70 Inclusion body myositis: a diagnostic challenge Brady, S.
 2011
 21 S1 p. S27-
1 p.
 article
60 P16 Investigating novel mutant mouse models of motor neuron disease McGoldrick, P.
 2011
 21 S1 p. S11-
1 p.
 article
61 P13 Investigating pathophysiology and therapeutic strategies in a mouse model of spinal and bulbar muscular atrophy (SBMA) Gray, A.
 2011
 21 S1 p. S10-
1 p.
 article
62 P69 Investigating the effects of pharmacological up-regulation of the heat shock response on protein degradation pathways in an in-vitro model of sporadic inclusion body myositis Ahmed, M.
 2011
 21 S1 p. S26-S27
2 p.
 article
63 P14 In vivo myocardial calcium influx is increased in the delta sarcoglycan deficient mouse model of muscular dystrophy cardiomyopathy. Role of the L-type calcium channel Greally, E.
 2011
 21 S1 p. S10-
1 p.
 article
64 P53 Kearns-Sayre syndrome caused by defective R1/p53R2 assembly Pitceathly, R.D.S.
 2011
 21 S1 p. S21-
1 p.
 article
65 P30 Large scale chloride channel gene DNA rearrangements are an important cause of recessive myotonia congenitaimplications for diagnostic screening Rayan, D.L. Raja
 2011
 21 S1 p. S14-S15
2 p.
 article
66 P49 Manipulation of human abnormally fertilized pronuclear stage zygotes following vitrification Irving, L.
 2011
 21 S1 p. S20-
1 p.
 article
67 P35 Microfluidic chambers provide a novel method to study the functional properties of sensory neuron terminals in culture Clark, A.
 2011
 21 S1 p. S16-
1 p.
 article
68 P73 Mitochondrial abnormalities in inclusion body myositis Rygiel, K.
 2011
 21 S1 p. S27-S28
2 p.
 article
69 P57 Mitochondrial DNA mutations in satellite cells Spendiff, S.
 2011
 21 S1 p. S22-
1 p.
 article
70 P58 Mitochondrial respiratory chain enzyme deficiency expressed during muscle development Taanman, J.-W.
 2011
 21 S1 p. S23-
1 p.
 article
71 P76 MRI shows increased tibial nerve size in CMT1A Sinclair, C.D.J.
 2011
 21 S1 p. S28-
1 p.
 article
72 P75 Muscle MRI findings in LGMD2L Sarkozy, A.
 2011
 21 S1 p. S28-
1 p.
 article
73 P47 Mutations in the novel chaperone FOXRED1 cause mitochondrial complex I deficiency Fassone, E.
 2011
 21 S1 p. S19-
1 p.
 article
74 P32 Myasthenic crisis in the intensive care unit – a ten year review Spillane, J.E.
 2011
 21 S1 p. S15-
1 p.
 article
75 P39 Neurofilament light chain polypeptide gene (NEFL) mutations in autosomal dominant or sporadic Charcot-Marie-Tooth disease Liu, Y.-T.
 2011
 21 S1 p. S17-
1 p.
 article
76 P64 Neutral lipid storage myopathy due to PNPLA2 mutations may respond to beta-adrenergic treatment Horvath, R.
 2011
 21 S1 p. S25-
1 p.
 article
77 P08 Optimal dystrophin mini-construct for gene delivery to skeletal muscle Reza, M.
 2011
 21 S1 p. S9-
1 p.
 article
78 P09 Patient-specific viral rescue therapies for Duchenne muscular dystrophy Ritso, M.
 2011
 21 S1 p. S9-
1 p.
 article
79 P37 Phenotype in E410K beta-tubulin isotype 3 mutations: striking facial weakness and other extraocular manifestations in addition to CFEOM Gutowski, N.J.
 2011
 21 S1 p. S16-S17
2 p.
 article
80 P26 Pyridostigmine-responsive limb-girdle congenital myasthenic syndrome with frequent tubular aggregates Müller, J.
 2011
 21 S1 p. S13-S14
2 p.
 article
81 P01 Quantification of exon skipping in Duchenne muscular dystrophy by qRT-PCR Anthony, K.
 2011
 21 S1 p. S7-
1 p.
 article
82 P59 Respiratory chain complex I deficiency caused by mitochondrial DNA mutations Taylor, R.W.
 2011
 21 S1 p. S23-
1 p.
 article
83 P55 Reversible infantile respiratory chain deficiency is a genetically heterogenous mitochondrial disease Uusimaa, J.
 2011
 21 S1 p. S22-
1 p.
 article
84 P67 SEPN1 related myopathies: Clinical course in a large cohort of patients Scoto, M.
 2011
 21 S1 p. S26-
1 p.
 article
85 P31 Synaptic mechanisms in P/Q deficient neuromuscular junctions Spillane, J.E.
 2011
 21 S1 p. S15-
1 p.
 article
86 P72 The effects of arimoclomol on pathological outcome measures of inclusion body myositis in vitro Miller, A.
 2011
 21 S1 p. S27-
1 p.
 article
87 P07 The feasibility of exon skipping to restore the reading frame in DMD patients with duplications Kim, J.
 2011
 21 S1 p. S8-S9
2 p.
 article
88 P20 The host muscle environment has got a profound effect on satellite cell function Boldrin, L.
 2011
 21 S1 p. S12-
1 p.
 article
89 P62 The identification of a viable outcome measure in the collagen VI myopathies promotes progress toward clinical trials Foley, A.R.
 2011
 21 S1 p. S24-
1 p.
 article
90 P80 The MRC Centre for Translational Research in Neuromuscular Disease: Mitochondrial Disease Patient Cohort Study UK Nesbitt, V.
 2011
 21 S1 p. S29-S30
2 p.
 article
91 P79 The natural history of sporadic inclusion body myositis: development of an electronic database IBM net Miller, A.
 2011
 21 S1 p. S29-
1 p.
 article
92 P68 The pathological spectrum associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene Sewry, C.
 2011
 21 S1 p. S26-
1 p.
 article
93 P61 The spectrum of genetic defects responsible for congenital fibre type disproportion Feng, L.
 2011
 21 S1 p. S24-
1 p.
 article
94 P18 Transient mouse models for the preclinical evaluation of therapeutic dystrophin exon skipping strategies Wilton, S.D.
 2011
 21 S1 p. S11-
1 p.
 article
95 P46 Tremor in Charcot-Marie-Tooth disease Saifee, T.A.
 2011
 21 S1 p. S19-
1 p.
 article
96 P36 TRPV4 mutations and functional characterisation in a cohort of patients with hereditary neuropathy Fawcett, K.
 2011
 21 S1 p. S16-
1 p.
 article
97 P05 Utrophin upregulation in DMD therapy: current status and new tools for the future Fairclough, R.J.
 2011
 21 S1 p. S8-
1 p.
 article
98 P65 Whole genome analysis in a family with dominant muscle disease Pitceathly, R.D.S.
 2011
 21 S1 p. S25-
1 p.
 article
99 P56 Why does mitochondrial disease progress? From molecular genetics to patient phenotype Ratnaike, T.E.
 2011
 21 S1 p. S22-
1 p.
 article
100 P42 X-inactivation pattern in females with CMTX1 Murphy, S.M.
 2011
 21 S1 p. S18-
1 p.
 article
101 P15 Zebrafish Fukutin family proteins link the unfolded protein response with dystroglycanopathies Lin, Y.-Y.
 2011
 21 S1 p. S11-
1 p.
 article
                             101 results found
 
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