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                             110 gevonden resultaten
nr titel auteur tijdschrift jaar jaarg. afl. pagina('s) type
1 Author index 2010
 20 S1 p. S31-S33
3 p.
 artikel
2 Editorial Board 2010
 20 S1 p. i-
1 p.
 artikel
3 O05 Acquired inflammatory neuropathy Lunn, M.P.
 2010
 20 S1 p. S2-
1 p.
 artikel
4 O01 An overview of RNA therapeutics van Ommen, G.-J.B.
 2010
 20 S1 p. S1-
1 p.
 artikel
5 O03 Antisense approaches in SMA Zhou, H.
 2010
 20 S1 p. S1-
1 p.
 artikel
6 O06 Clinical and molecular aspects of dermatomyositis Wedderburn, L.R.
 2010
 20 S1 p. S2-
1 p.
 artikel
7 O14 Clinical applications of MRI in muscular dystrophy Straub, V.
 2010
 20 S1 p. S4-
1 p.
 artikel
8 O09 Inclusion body myositis – an age related degenerative myopathy? Amato, A.
 2010
 20 S1 p. S3-
1 p.
 artikel
9 O11 New findings in FSHD Tawil, R.
 2010
 20 S1 p. S3-
1 p.
 artikel
10 O12 NMR imaging and spectroscopy in animal models of neuromuscular diseases Carlier, P.G.
 2010
 20 S1 p. S4-
1 p.
 artikel
11 O13 Paediatric applications of neuromuscular MRI Pichiecchio, A.
 2010
 20 S1 p. S4-
1 p.
 artikel
12 O10 Protein aggregate myopathies and ageing Lochmüller, H.
 2010
 20 S1 p. S3-
1 p.
 artikel
13 O08 Reactive oxygen species and loss of muscle fibres during ageing Jackson, M.J.
 2010
 20 S1 p. S3-
1 p.
 artikel
14 O04 Results of a systemic antisense study in Duchenne muscular dystrophy Muntoni, F.
 2010
 20 S1 p. S2-
1 p.
 artikel
15 O02 RNA therapy approaches in myotonic dystrophy Thornton, C.
 2010
 20 S1 p. S1-
1 p.
 artikel
16 O07 The John Newsom-Davis Lecture: The neuromuscular junction – a wide spectrum of disease mechanisms Vincent, A.
 2010
 20 S1 p. S2-S3
2 p.
 artikel
17 P43 Acetazolamide response in patients affected by hypokalemic periodic paralysis Portaro, S.
 2010
 20 S1 p. S16-
1 p.
 artikel
18 P33 Analysis of small fibre function in the C3 mouse, a model of CMT1A Clark, A.
 2010
 20 S1 p. S14-
1 p.
 artikel
19 P41 Analysis of the molecular mechanisms mediating Bmi1 function in satellite cells Zhang, X.
 2010
 20 S1 p. S16-
1 p.
 artikel
20 P12 An audit of bone density and vertebral fractures during steroid treatment in Duchenne muscular dystrophy Kulshrestha, R.
 2010
 20 S1 p. S8-
1 p.
 artikel
21 P19 An extremely high rate of de novo base substitution mutations causes interruptions at the myotonic dystrophy type 1 locus Couto, J.M.
 2010
 20 S1 p. S10-
1 p.
 artikel
22 P89 An MRI biomarker for motor neuron disease? Filippini, N.
 2010
 20 S1 p. S29-
1 p.
 artikel
23 P09 A Novel Ankle foot orthoses/footwear combination to aid walking in Duchenne muscular dystrophy Bromwich, W.
 2010
 20 S1 p. S7-
1 p.
 artikel
24 P59 A novel mutation in the nerve-specific 5 UTR of the Cx32 gene causing CMTX1 Murphy, S.M.
 2010
 20 S1 p. S20-S21
2 p.
 artikel
25 P66 A novel point mutation in the Caenorhabditis elegans smn-1 gene provides a useful model for investigating Spinal Muscular Atrophy Sleigh, J.N.
 2010
 20 S1 p. S22-S23
2 p.
 artikel
26 P56 A novel topical capsaicin model of “neuropathic pain” in human volunteers using cerebral evoked potentials and fMRI Roberts, K.
 2010
 20 S1 p. S20-
1 p.
 artikel
27 P58 Anti-MA2 associated paraneoplastic myelo-radiculopathy Murphy, S.M.
 2010
 20 S1 p. S20-
1 p.
 artikel
28 P23 Assessing the effects of exercise-induced stress on the Fiona mouse model Bareja, A.
 2010
 20 S1 p. S11-
1 p.
 artikel
29 P80 Augmentation of the heat shock response in an in vitro model of sporadic inclusion body myositis Miller, A.D.
 2010
 20 S1 p. S26-S27
2 p.
 artikel
30 P24 Blocking calcium influx with streptomycin worsens myocardial pathology in the mdx mouse model of muscular dystrophy Blain, A.
 2010
 20 S1 p. S11-
1 p.
 artikel
31 P62 Characterisation of novel mutations within HSP27 causing Charcot–Marie–Tooth disease 2F and distal hereditary motor neuropathy II Innes, A.
 2010
 20 S1 p. S21-S22
2 p.
 artikel
32 P27 Chronic long term administration of phosphorodiamidate morpholino oligomer profoundly ameliorates activity, muscle strength and phenotype in dystrophic mdx mice Malerba, A.
 2010
 20 S1 p. S12-
1 p.
 artikel
33 P63 C-Jun expression in human neuropathies: a pilot study Hutton, E.J.
 2010
 20 S1 p. S22-
1 p.
 artikel
34 P22 Clinical and pathological heterogeneity in partial merosin deficiency Rajakulendran, S.
 2010
 20 S1 p. S11-
1 p.
 artikel
35 P94 Cochrane reviews: the best evidence for treating neuromuscular diseases? Quinlivan, R.
 2010
 20 S1 p. S30-
1 p.
 artikel
36 P54 Comparing activity levels between people with Charcot–Marie– Tooth disease and healthy controls – a pilot study Pollard, A.
 2010
 20 S1 p. S19-
1 p.
 artikel
37 P53 Comparing gait performance of people with Charcot–Marie– Tooth disease who do and do not wear ankle foot orthoses Ramdharry, G.M.
 2010
 20 S1 p. S19-
1 p.
 artikel
38 P77 Complex I-deficient Leigh syndrome caused by a novel homozygous deletion in NDUFS4 Fassone, E.
 2010
 20 S1 p. S25-S26
2 p.
 artikel
39 P01 Current progress with the systemic administration trial of AVI-4658, a novel Phosphorodiamidate Morpholino Oligomer (PMO) skipping dystrophin exon 51 in Duchenne muscular dystrophy (DMD) Cirak, S.
 2010
 20 S1 p. S5-
1 p.
 artikel
40 P71 Development and validation of a mitochondrial disease-specific quality of life scale (Mito-QOL) Elson, J.L.
 2010
 20 S1 p. S24-
1 p.
 artikel
41 P61 Diverse phenotypes are associated with missense mutations in the peripheral myelin protein 22 gene Russo, M.
 2010
 20 S1 p. S21-
1 p.
 artikel
42 P42 Does Bmi-1 over-expression increase myogenic satellite cells self-renewal capacity in ageing muscle? Di Foggia, V.
 2010
 20 S1 p. S16-
1 p.
 artikel
43 P45 Double-blind placebo controlled cross-over study to investigate the efficacy of mexiletine in patients with non-dystrophic myotonia in the UK Raja Rayan, D.
 2010
 20 S1 p. S17-
1 p.
 artikel
44 P50 Down-regulation of ColQ by RNA interference as a potential alternative therapy in myasthenic disorders Kenyon, J.
 2010
 20 S1 p. S18-
1 p.
 artikel
45 P81 Drug screening for new inhibitors of a human β-amyloid (Aβ1–42) induced phenotype in a Caenorhabditis elegans transgenic line CL4176 Nussher, A.K.
 2010
 20 S1 p. S27-
1 p.
 artikel
46 P68 Duloxetine for treating painful neuropathy or chronic pain; a Cochrane systematic review Lunn, M.P.
 2010
 20 S1 p. S23-
1 p.
 artikel
47 P40 Dystrophin expression in DMD pericytes after infection with U7 lentivirus designed to skip dystrophin exon 51 Meng, J.
 2010
 20 S1 p. S15-
1 p.
 artikel
48 P67 Early presentation of spinal muscular atrophy with respiratory distress (SMARD1) Khan, T.
 2010
 20 S1 p. S23-
1 p.
 artikel
49 P51 Ephedrine treatment in DOK7 CMS and investigation of potential mechanisms Cossins, J.
 2010
 20 S1 p. S18-
1 p.
 artikel
50 P06 Evaluation of the truncated products of exon and multiple exon skipping in DMD therapy Jarmin, S.
 2010
 20 S1 p. S6-
1 p.
 artikel
51 P08 Exploring emotional impact in a proof-of-principle single-blind, controlled, two-doses escalation intramuscular study of a morpholino splice-switching oligonucleotide (AVI-4658) trial to induce dystrophin restoration in children with Duchenne muscular dystrophy Garralda, E.M.
 2010
 20 S1 p. S7-
1 p.
 artikel
52 P34 Exploring IGFN1 in cardiac muscle Riley, G.
 2010
 20 S1 p. S14-
1 p.
 artikel
53 P52 Exploring the experience of living with fatigue in people with Charcot–Marie–Tooth disease–aqualitative study Ramdharry, G.M.
 2010
 20 S1 p. S18-S19
2 p.
 artikel
54 P74 Finding the missing gap – mitochondrial DNA deletions in muscle stem cells Spendiff, S.
 2010
 20 S1 p. S25-
1 p.
 artikel
55 P64 Genes for hereditary sensory and autonomic neuropathies: frequency in a UK series and genotype-phenotype correlations Davidson, G.
 2010
 20 S1 p. S22-
1 p.
 artikel
56 P78 Habitual physical activity in mitochondrial disease – do we need to intervene? Gorman, G.S.
 2010
 20 S1 p. S26-
1 p.
 artikel
57 P82 Heat shock protein induction as a therapeutic strategy for inclusion body myositis Ahmed, M.
 2010
 20 S1 p. S27-
1 p.
 artikel
58 P83 IBM-Net: a clinical database of inclusion body myositis patients Parton, M.
 2010
 20 S1 p. S27-
1 p.
 artikel
59 P13 Identification of a novel group of muscular dystrophies, the Anoctaminopathies, caused by recessive mutations in the putative calcium activated chloride channel, ANO5 Marlow, G.
 2010
 20 S1 p. S8-
1 p.
 artikel
60 P35 Immortalisation and characterisation of muscle stem cells Ritso, M.
 2010
 20 S1 p. S14-
1 p.
 artikel
61 P05 Induction of dystrophin in Duchenne muscular dystrophy patients by antisense oligonucleotide AVI-4658 restores the dystrophin-associated glycoprotein complex Cirak, S.
 2010
 20 S1 p. S6-
1 p.
 artikel
62 P75 Infantile reversible COX deficiency myopathy caused by the m.14674T>C mutation in mt-tRNAGlu in a German family Horvath, R.
 2010
 20 S1 p. S25-
1 p.
 artikel
63 P86 Inter-scan reproducibility of quantitative neuromuscular MRI Sinclair, C.D.J.
 2010
 20 S1 p. S28-
1 p.
 artikel
64 P32 Investigating novel mutant mouse models of motor neuron disease McGoldrick, P.
 2010
 20 S1 p. S13-
1 p.
 artikel
65 P17 Investigating the molecular mechanisms of FSHD Leidenroth, A.
 2010
 20 S1 p. S9-S10
2 p.
 artikel
66 P48 Late recurrent thymoma: a case series Spillane, J.E.
 2010
 20 S1 p. S17-S18
2 p.
 artikel
67 P04 Lentivirus-mediated stem cell therapy for Duchenne muscular dystrophy Jonuschies, J.
 2010
 20 S1 p. S6-
1 p.
 artikel
68 P90 Magnetic resonance imaging and sciatic nerve cross-sectional area in inherited and inflammatory neuropathies Sinclair, C.D.J.
 2010
 20 S1 p. S29-
1 p.
 artikel
69 P38 Mice lacking lamin A/C have disorganised myotendinous junctions and perturbed satellite cell function Gnocchi, V.
 2010
 20 S1 p. S15-
1 p.
 artikel
70 P15 Modelling the role of dystroglycan glycosylation in angiogenesis using zebrafish Wood, A.
 2010
 20 S1 p. S9-
1 p.
 artikel
71 P69 MRC mitochondrial cohort study: development of a UK database Pitceathly, R.D.S.
 2010
 20 S1 p. S23-
1 p.
 artikel
72 P93 MRC NMD Biobank service: an overview Johnson, D.
 2010
 20 S1 p. S30-
1 p.
 artikel
73 P88 MRI in LGMD2I: a qualitative and quantitative analysis using the 3 point Dixon technique Willis, T.
 2010
 20 S1 p. S29-
1 p.
 artikel
74 P02 Multiexon skipping in Duchenne muscular dystrophy Popplewell, L.
 2010
 20 S1 p. S5-
1 p.
 artikel
75 P28 Muscular dystrophy begins early in embryonic development deriving from stem cell loss and disrupted skeletal muscle formation Merrick, D.
 2010
 20 S1 p. S12-S13
2 p.
 artikel
76 P31 Myofibrillar myopathy caused by a mutation in the mouse Myh4 gene Kuraparti, R.
 2010
 20 S1 p. S13-
1 p.
 artikel
77 P16 National commissioning group for rare neuromuscular disorders: LGMD diagnostic and advisory service in Newcastle Barresi, R.
 2010
 20 S1 p. S9-
1 p.
 artikel
78 P65 Neuregulin-1 is required for remyelination and regeneration following injury to the adult peripaheral nervous system Fricker, F.R.
 2010
 20 S1 p. S22-
1 p.
 artikel
79 P55 Neurophysiological evidence for cerebellar dysfunction in neuropathic tremor Saifee, T.
 2010
 20 S1 p. S19-S20
2 p.
 artikel
80 P70 Non-invasive diagnosis of single deletion disorders in children with suspected mitochondrial disease Pitceathly, R.D.S.
 2010
 20 S1 p. S24-
1 p.
 artikel
81 P73 OPA1 codes for a mitochondrial fusion protein found on the inner mitochondrial membrane Chinnery, P.F.
 2010
 20 S1 p. S24-S25
2 p.
 artikel
82 P10 Parental stress levels in parents of children with muscular dystrophy Easthope-Mowatt, Y.
 2010
 20 S1 p. S7-
1 p.
 artikel
83 P37 Pax3/Pax7 transcriptional activity is in vivo required for muscle differentiation Boldrin, L.
 2010
 20 S1 p. S15-
1 p.
 artikel
84 P36 Phenotypic separation of satellite stem cells using flow cytometry Briggs, D.
 2010
 20 S1 p. S14-S15
2 p.
 artikel
85 P29 Preventing dystroglycan phosphorylation as a route to therapy in DMD Miller, G.
 2010
 20 S1 p. S13-
1 p.
 artikel
86 P46 Quantification of grip myotonia using a novel accelerometer device: a pilot study Dewar, L.
 2010
 20 S1 p. S17-
1 p.
 artikel
87 P87 Quantitative magnetization transfer MRI: a potential new source of biomarkers in skeletal muscle? Sinclair, C.D.J.
 2010
 20 S1 p. S28-S29
2 p.
 artikel
88 P85 Recurrent BAG3 gene mutation in a British family with two siblings with severe myofibrillar myopathy Sarkozy, A.
 2010
 20 S1 p. S28-
1 p.
 artikel
89 P92 Registry of Outcome Measures (ROM); supporting review and selection of outcome measures (OMs) for studies and trials Auld, J.
 2010
 20 S1 p. S30-
1 p.
 artikel
90 P26 Rescu of severely affected dystrophin/utrophin deficient mice by morpholino-oligomer mediated exon skipping Goyenvalle, A.
 2010
 20 S1 p. S12-
1 p.
 artikel
91 P57 Role of the transcription factor Sox-2 in the control of peripheral nerve development and repair Doddrell, R.D.S.
 2010
 20 S1 p. S20-
1 p.
 artikel
92 P39 Satellite cell heterogeneity Neal, A.
 2010
 20 S1 p. S15-
1 p.
 artikel
93 P20 Screening for drugs to treat myotonic dystrophy Brook, D.
 2010
 20 S1 p. S10-
1 p.
 artikel
94 P03 The characterisation of out of frame duplications in DMD patients Kim, J.
 2010
 20 S1 p. S5-
1 p.
 artikel
95 P84 The expanding histopathological profile of the myofibrillar myopathies Pitceathly, R.D.S.
 2010
 20 S1 p. S28-
1 p.
 artikel
96 P14 The first UK family with Ano5-associated myopathy Sarkozy, A.
 2010
 20 S1 p. S9-
1 p.
 artikel
97 P44 The genetic skeletal muscle channelopathies: genotype–phenotype correlation and longitudinal studies Rajakulendran, S.
 2010
 20 S1 p. S16-S17
2 p.
 artikel
98 P30 The integrin effectors talin 1 and 2 are essential for skeletal muscle development and integrity Conti, F.J.
 2010
 20 S1 p. S13-
1 p.
 artikel
99 P76 The m.3291 T>C mtDNA mutation causes Ekbom's syndrome: expanding the clinical and genetic phenotype Gosal, D.
 2010
 20 S1 p. S25-
1 p.
 artikel
100 P21 The relationship between syntrophins and syntrophin-binding sites (SBSs) in the dystrophins and dystrobrevins Böhm, S.V.
 2010
 20 S1 p. S11-
1 p.
 artikel
101 P49 The use of stimulation jitter analysis with concentric needle electrodes in the diagnosis of myasthenia Pitt, M.
 2010
 20 S1 p. S18-
1 p.
 artikel
102 P47 Thymectomy – role in the management of myasthenia gravis Spillane, J.E.
 2010
 20 S1 p. S17-
1 p.
 artikel
103 P07 Translation related clinical trials in duchenne muscular dystrophy (DMD) in the UK Choudhury, R.
 2010
 20 S1 p. S6-S7
2 p.
 artikel
104 P11 UK NorthStar Neuromuscular Clinical Network (NSCN): National audit results in Duchenne muscular dystrophy (DMD) corticosteroid practice, vitamin D status and bone health Manzur, A.Y.
 2010
 20 S1 p. S8-
1 p.
 artikel
105 P72 Uncovering the role of mitochondria in the pathogenesis of core myopathies Munteanu, I.
 2010
 20 S1 p. S24-
1 p.
 artikel
106 P91 Using MRI as a diagnostic tool in the skeletal muscle channelopathies Matthews, E.
 2010
 20 S1 p. S29-S30
2 p.
 artikel
107 P25 Utrophin luciferase knock-in mouse model for in vivo assessment of drug efficacy in preclinical trials for utrophin upregulation Fairclough, R.J.
 2010
 20 S1 p. S12-
1 p.
 artikel
108 P60 Variable severity of early onset CMT2 with compound heterozygous MFN2 mutations Laurá, M.
 2010
 20 S1 p. S21-
1 p.
 artikel
109 P18 Variant triplet repeats in the CTG expansion of DMPK affect stability of the expanded region and may contribute to unusual symptoms observed in some myotonic dystrophy type 1 cases Braida, C.
 2010
 20 S1 p. S10-
1 p.
 artikel
110 P79 What modifies the clinical presentation of the common homozygous p.A467T POLG mutation? Neeve, V.C.M.
 2010
 20 S1 p. S26-
1 p.
 artikel
                             110 gevonden resultaten
 
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