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                             95 gevonden resultaten
nr titel auteur tijdschrift jaar jaarg. afl. pagina('s) type
1 Author Index 2014
 24 S1 p. S28-S30
3 p.
 artikel
2 Editorial Board 2014
 24 S1 p. iii-
1 p.
 artikel
3 O08 A gene for speed: ACTN3, athletes, evolution and impact on human health North, K.
 2014
 24 S1 p. S2-S3
2 p.
 artikel
4 O12 Antisense approaches to counter skeletal muscle atrophy and fibrosis: targeting myostatin and other strategies Dickson, G.
 2014
 24 S1 p. S3-S4
2 p.
 artikel
5 O01 Autologous cell therapy in oculopharyngeal muscular dystrophy (OPMD) Périé, S.
 2014
 24 S1 p. S1-
1 p.
 artikel
6 O03 Cell therapy for muscular dystrophies Cossu, G.
 2014
 24 S1 p. S1-
1 p.
 artikel
7 O10 Development of PMO antisense oligonucleotides for treatment of Spinal muscular atrophy Burghes, A.H.M.
 2014
 24 S1 p. S3-
1 p.
 artikel
8 O14 Diffusion tensor imaging in neuromuscular disease Nicolay, K.
 2014
 24 S1 p. S4-
1 p.
 artikel
9 O15 Emerging results from the Imaging DMD study Sweeney, H.L.
 2014
 24 S1 p. S5-
1 p.
 artikel
10 O06 Heat shock proteins and protein homeostasis in hereditary neuropathies Timmerman, V.
 2014
 24 S1 p. S2-
1 p.
 artikel
11 O02 Optidystrophin in DMD stem cells Meng, J.
 2014
 24 S1 p. S1-
1 p.
 artikel
12 O11 Peptide modified AONs for enhanced potency and tissue targeting Wood, M.J.A.
 2014
 24 S1 p. S3-
1 p.
 artikel
13 O13 Progress toward molecular-based therapies for muscular dystrophy Mendell, J.R.
 2014
 24 S1 p. S4-
1 p.
 artikel
14 O04 Protein homeostasis – what does it mean? Jackson, G.S.
 2014
 24 S1 p. S1-
1 p.
 artikel
15 O05 The role of the unfolded protein response in neurodegeneration: a new target for therapy Mallucci, G.
 2014
 24 S1 p. S1-S2
2 p.
 artikel
16 O09 Tricyclo-DNA for the treatment of neuromuscular diseases Goyenvalle, A.
 2014
 24 S1 p. S3-
1 p.
 artikel
17 O07 Using proteomic profiling to decipher the pathogenesis of myofibrillar myopathies Kley, R.A.
 2014
 24 S1 p. S2-
1 p.
 artikel
18 P9 Adeno-associated virus (AAV)-mediated RNA interference to PABPN1 combined with an optimised resistant transgene for rescue of the muscle specific disease oculopharyngeal muscular dystrophy (OPMD) Bachtarzi, H.
 2014
 24 S1 p. S9-
1 p.
 artikel
19 P54 A dominant negative mutation in FBXO38 is a cause of distal hereditary motor neuropathy (dHMN) Rossor, A.M.
 2014
 24 S1 p. S21-
1 p.
 artikel
20 P55 Are axonal transport deficits present in a novel mouse model of spinal and bulbar muscular atrophy? Devine, H.
 2014
 24 S1 p. S21-S22
2 p.
 artikel
21 P29 Behr's syndrome is a mitochondrial disease due to autosomal recessive mutations in the C12orf65 gene Pyle, A.
 2014
 24 S1 p. S14-
1 p.
 artikel
22 P40 BIOIMAGE-NMD (BIOIMAGE-Neuromuscular Diseases) Veldhuizen, O.
 2014
 24 S1 p. S17-
1 p.
 artikel
23 P26 Can aerobic exercise improve function in patients with mitochondrial disease? Newman, J.
 2014
 24 S1 p. S13-S14
2 p.
 artikel
24 P67 Characterisation of the expression of Polycomb Group Genes in human neuromuscular diseases Dibenedetto, S.
 2014
 24 S1 p. S24-S25
2 p.
 artikel
25 P25 Clearing cells of mutant mitochondrial DNA by restricting glycolysis Ives, D.
 2014
 24 S1 p. S13-
1 p.
 artikel
26 P76 Clinical research activity in the Newcastle MRC centre for neuromuscular disease Maddison, J.
 2014
 24 S1 p. S27-
1 p.
 artikel
27 P77 Collagen XII; novel disease-causing candidate gene for Bethlem-like patients Farsani, G.T.
 2014
 24 S1 p. S27-
1 p.
 artikel
28 P7 Control of transcription elongation is essential for cardiac and skeletal muscle development Bharj, J.
 2014
 24 S1 p. S8-S9
2 p.
 artikel
29 P65 Designing 3D scaffolds that can support myogenic progression in skeletal muscle satellite cells Figeac, N.
 2014
 24 S1 p. S24-
1 p.
 artikel
30 P5 Detection of circulating miRNAs in serum in a mouse model of Collagen VI Deficiency Catapano, F.
 2014
 24 S1 p. S8-
1 p.
 artikel
31 P18 Developing allele-selective silencing by antisense oligonucleotide as a therapeutic strategy for autosomal dominant neuromuscular diseases Zhou, H.
 2014
 24 S1 p. S11-
1 p.
 artikel
32 P3 Development of anoctaminopathy immunodiagnostics using the novel ANO5–5F7 antibody Bashir, R.
 2014
 24 S1 p. S7-
1 p.
 artikel
33 P8 Development of a novel approach using TALE nucleases to correct duplications in the dystrophin gene Wilson, E.
 2014
 24 S1 p. S9-
1 p.
 artikel
34 P6 Development of FSHD2 diagnostic testing Smith, D.
 2014
 24 S1 p. S8-
1 p.
 artikel
35 P30 Does a physiological COX isoform switch contribute to the clinical presentation of infantile reversible cytochrome c oxidase deficiency? Boczonadi, V.
 2014
 24 S1 p. S14-S15
2 p.
 artikel
36 P33 Do modulators of mitophagy select pathogenic mtDNA mutations? Hinks-Roberts, A.
 2014
 24 S1 p. S15-
1 p.
 artikel
37 P11 Elucidating the immune response to transplanted xenogeneic human mesoangioblasts for cell-based therapies of muscular dystrophies King, L.
 2014
 24 S1 p. S9-S10
2 p.
 artikel
38 P70 EUROMAC: Disease registry for McArdle disease and other pure muscle glycogenolytic disorders presenting with exercise intolerance Scalco, R.S.
 2014
 24 S1 p. S25-
1 p.
 artikel
39 P75 Exome sequencing identifies EPG5 mutations in two siblings with a childhood onset vacuolar myopathy Whyte, T.
 2014
 24 S1 p. S27-
1 p.
 artikel
40 P43 Functional characterisation of the novel CLC-1 variants C179Y and A529V using Two-Electrode-Voltage-Clamp and review of ClC-1 structure–function Suetterlin, K.
 2014
 24 S1 p. S18-
1 p.
 artikel
41 P46 Functional investigation of a novel mutation causing a new phenotype for the KCNA1 gene Gardiner, A.R.
 2014
 24 S1 p. S19-
1 p.
 artikel
42 P50 Genetics of riboflavin channels Manole, A.A.
 2014
 24 S1 p. S20-
1 p.
 artikel
43 P31 Genotypic and phenotypic heterogeneity in adult-onset progressive external ophthalmoplegia (PEO) with mitochondrial DNA instability: a systematic review Sommerville, E.W.
 2014
 24 S1 p. S15-
1 p.
 artikel
44 P22 High content screening identifies small molecules that remove nuclear foci, affect MBNL distribution and CELF1 protein levels via a PKC independent pathway in myotonic dystrophy cell lines Ketley, A.
 2014
 24 S1 p. S12-
1 p.
 artikel
45 P12 Hypertrophy in cardiomyocytes isolated from mdx embryos Ritso, M.
 2014
 24 S1 p. S10-
1 p.
 artikel
46 P53 Identifying responsive outcome measures in hereditary sensory neuropathy type 1 (HSN1) Kugathasan, U.
 2014
 24 S1 p. S21-
1 p.
 artikel
47 P57 IGHMBP2 mutations cause recessive axonal neuropathy: Genetic and functional characterisation in seven families Cottenie, E.
 2014
 24 S1 p. S22-
1 p.
 artikel
48 P68 Improving diagnostic sensitivity and specificity of musk cell-based assays for myasthenia gravis Huda, S.
 2014
 24 S1 p. S25-
1 p.
 artikel
49 P63 Improving satellite cell regenerative potential in muscular dystrophy: an environmental issue Pisconti, A.
 2014
 24 S1 p. S23-S24
2 p.
 artikel
50 P74 Improving standards of care and translational research in spinal muscular atrophy (SMA) – functional scales Ramsey, D.
 2014
 24 S1 p. S26-S27
2 p.
 artikel
51 P48 Integrins are required for synaptic transmission and development of the neuromuscular junction Ross, J.
 2014
 24 S1 p. S19-S20
2 p.
 artikel
52 P71 International clinical outcomes study in dysferlinopathy (COS): results of screening questionnaires in UK patients Harris, E.
 2014
 24 S1 p. S26-
1 p.
 artikel
53 P28 Investigating mitochondrial dysfunction in the myofibrillar and other protein aggregate myopathies Vincent, A.
 2014
 24 S1 p. S14-
1 p.
 artikel
54 P41 Investigating the effect of AGRN mutations on acetylcholine receptor (AChR) clustering in vitro Issop, Y.
 2014
 24 S1 p. S17-S18
2 p.
 artikel
55 P62 Investigating the effects of pharmacological up-regulation of the heat shock response in a transgenic mouse model of inclusion body myopathy Ahmed, M.
 2014
 24 S1 p. S23-
1 p.
 artikel
56 P66 iPS cells and human artificial chromosomes: novel therapeutic tools for muscle disorders Tedesco, F.S.
 2014
 24 S1 p. S24-
1 p.
 artikel
57 P15 Longitudinal observational study of myotonic dystrophy type 1: baseline clinical characteristics Sedehizadeh, S.
 2014
 24 S1 p. S10-
1 p.
 artikel
58 P24 Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signalling Sharpe, J.A.
 2014
 24 S1 p. S13-
1 p.
 artikel
59 P47 Loss of negative charges within the voltage sensor domain of NaV1.4 results in gating pore currents Durran, S.C.M.
 2014
 24 S1 p. S19-
1 p.
 artikel
60 P19 Low doses of antisense oligonucleotide to generate an intermediate mouse model of SMA and explore optimal timing for therapeutic intervention Zhou, H.
 2014
 24 S1 p. S11-S12
2 p.
 artikel
61 P52 MFN2 deletion founder mutation in the UK population Carr, A.S.
 2014
 24 S1 p. S21-
1 p.
 artikel
62 P49 Mitochondrial abnormalities and increased oxidative stress in HSBP1iinduced distal hereditary motor neuropathies Kalmar, B.
 2014
 24 S1 p. S20-
1 p.
 artikel
63 P38 MRI quantification of fixed myopathy in hypokalaemic periodic paralysis identifies potential therapeutic window Morrow, J.M.
 2014
 24 S1 p. S17-
1 p.
 artikel
64 P37 Muscle MRI in congenital myasthenics syndromes Rodriguez Cruz, P.M.
 2014
 24 S1 p. S16-S17
2 p.
 artikel
65 P32 Mutations in SPG7 cause chronic progressive external ophthalmoplegia through disordered mtDNA maintenance Gorman, G.S.
 2014
 24 S1 p. S15-
1 p.
 artikel
66 P44 Mutations of the same S4 arginine residue in NaV1.4 can result in either myotonia or hypokalemic periodic paralysis Thor, M.G.
 2014
 24 S1 p. S18-S19
2 p.
 artikel
67 P2 Myosin myopathies; a family case study Willis, T.
 2014
 24 S1 p. S7-
1 p.
 artikel
68 P51 Neuropathy phenotype in hereditary transthyretin amyloidosis Carr, A.S.
 2014
 24 S1 p. S20-S21
2 p.
 artikel
69 P13 New orally available compounds which modulate utrophin expression for the therapy of Duchenne muscular dystrophy (DMD) Fairclough, R.J.
 2014
 24 S1 p. S10-
1 p.
 artikel
70 P14 Observations on oligonucleotide based therapy for myotonic dystrophy Moore, R.
 2014
 24 S1 p. S10-
1 p.
 artikel
71 P69 Old dicta and new techniques Lewis-Smith, D.J.
 2014
 24 S1 p. S25-
1 p.
 artikel
72 P20 Optimised dystrophin mini-constructs for gene delivery Reza, M.
 2014
 24 S1 p. S12-
1 p.
 artikel
73 P42 Pathogenic mechanisms of RAPSN mutations in congenital myasthenic syndromes Cheung, J.
 2014
 24 S1 p. S18-
1 p.
 artikel
74 P4 Pathophysiology of anoctaminopathy (LGMD2L) Kirk, C.
 2014
 24 S1 p. S8-
1 p.
 artikel
75 P1 Peptide-conjugated phosphodiamidate morpholino treatment in mdx mice: cardiac dystrophin restoration and function Blain, A.
 2014
 24 S1 p. S7-
1 p.
 artikel
76 P58 Psycho-organic symptoms as early manifestation of adult onset POMT1-related muscular dystrophy Haberlova, J.
 2014
 24 S1 p. S22-
1 p.
 artikel
77 P39 Quantitative lower limb muscle MRI in CMT1A demonstrates length-dependent fatty infiltration Evans, M.R.B.
 2014
 24 S1 p. S17-
1 p.
 artikel
78 P34 Reducing the cost of MRI in neuromuscular clinical trials: acceleration of fat-fraction measurement in Becker muscular dystrophy by combined compressed sensing and parallel imaging Hollingsworth, K.G.
 2014
 24 S1 p. S16-
1 p.
 artikel
79 P23 SCOPE-DMD (Exon Scipping COnsortium for Products across Europe in Duchenne Muscular Dystrophy) Veldhuizen, O.
 2014
 24 S1 p. S12-
1 p.
 artikel
80 P45 Seronegative myasthenia gravis – clinical and serological features Huda, S.
 2014
 24 S1 p. S19-
1 p.
 artikel
81 P60 Shared defective glycosylation pathways link congenital myasthenic syndromes with the dystroglycanopathies Stevens, E.
 2014
 24 S1 p. S23-
1 p.
 artikel
82 P21 Strategies for brain targeting using peptide-conjugated antisense oligonucleotides Douglas, A.G.L.
 2014
 24 S1 p. S12-
1 p.
 artikel
83 P27 Sudden unexpected death in adults with m.3243A>G mutation Ng, Y.S.
 2014
 24 S1 p. S14-
1 p.
 artikel
84 P36 Texture analysis of muscle MRI changes over 1 year Sinclair, C.D.J.
 2014
 24 S1 p. S16-
1 p.
 artikel
85 P64 The effect of calorie restriction on satellite cell function Whitmore, C.
 2014
 24 S1 p. S24-
1 p.
 artikel
86 P73 The national diagnostic and advisory service for limb-girdle muscular dystrophies in Newcastle Barresi, R.
 2014
 24 S1 p. S26-
1 p.
 artikel
87 P16 Towards a consensus on biochemical outcome measures for Duchenne muscular dystrophy clinical trials Torelli, S.
 2014
 24 S1 p. S11-
1 p.
 artikel
88 P59 Transcriptome analysis in a mouse model of FKRP-deficient muscular dystrophy Lin, Y-Y.
 2014
 24 S1 p. S22-S23
2 p.
 artikel
89 P72 Unraveling the genetic cause in patients with inherited peripheral neuropathy using gene panel testing Buxton, C.
 2014
 24 S1 p. S26-
1 p.
 artikel
90 P35 Upper limb muscle fat-water quantification MRI in non-ambulant Duchenne muscular dystrophy Ricotti, V.
 2014
 24 S1 p. S16-
1 p.
 artikel
91 P61 Using exome sequencing to investigate disease-causing mutations of muscle disorders with protein aggregates Gang, Q.
 2014
 24 S1 p. S23-
1 p.
 artikel
92 P10 Utrophin modulators to treat Duchenne Muscular Dystrophy (DMD): Future clinical trial plans for SMT C1100 and biomarker development programme Tinsley, J.M.
 2014
 24 S1 p. S9-
1 p.
 artikel
93 P17 Whole exome sequencing in patients with congenital myopathies Zaharieva, I.
 2014
 24 S1 p. S11-
1 p.
 artikel
94 P56 Whole-exome sequencing in patients with sensory and motor inherited neuropathies Horga, A.
 2014
 24 S1 p. S22-
1 p.
 artikel
95 S1 Development of a confirmatory phase 3, multicentre, randomized, double-blind, placebo-controlled study of ataluren in patients with nonsense mutation Duchenne muscular dystrophy Reha, A.
 2014
 24 S1 p. S31-
1 p.
 artikel
                             95 gevonden resultaten
 
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