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                             131 gevonden resultaten
nr titel auteur tijdschrift jaar jaarg. afl. pagina('s) type
1 A comparative phenotype study of the key forms of Periodic Paralysis in the UK Raja Rayan, D.L.
 2017
 27 S1 p. S33-
1 p.
 artikel
2 A feasibility study of bezafibrate in mitochondrial myopathy Steele, H.E.
 2017
 27 S1 p. S18-
1 p.
 artikel
3 Age-related and mutation-independent proteomic changes in dystrophic mouse muscle van Westering, T.L.E.
 2017
 27 S1 p. S5-S6
2 p.
 artikel
4 A Homozygous Reticulon 2 mutation is a cause of DHMN with pyramidal signs Rossor, A.M.
 2017
 27 S1 p. S24-
1 p.
 artikel
5 A multinational, randomized, double-blind, placebo-controlled Phase 2 study to assess safety and efficacy of olesoxime in Type 2 or non-ambulatory Type 3 spinal muscular atrophy Buchbjerg, J.
 2017
 27 S1 p. S29-
1 p.
 artikel
6 A national cohort study of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) – implications to clinical practice and therapeutic study Ng, Y.S.
 2017
 27 S1 p. S21-
1 p.
 artikel
7 An audit on the reasons why patients failed to attend the Newcastle University Trust Hospitals’ Neuromuscular Clinics, at the John Walton Muscular Dystrophy Research Centre, and the actions taken Cameron, S.
 2017
 27 S1 p. S38-S39
2 p.
 artikel
8 Application of induced pluripotent stem cell technology for disease modelling and drug discovery in peripheral sensory neurons Bilsland, J.
 2017
 27 S1 p. S1-
1 p.
 artikel
9 A recessive mutation in EXOSC9 causes abnormal RNA metabolism resulting in a novel form of cerebellar hypoplasia/atrophy with early motor neuronopathy Burns, D.T.
 2017
 27 S1 p. S38-
1 p.
 artikel
10 A semi-automated image processing method for quantify dystrophin coverage at the sarcolemma membrane of each individual muscle fibre Sardone, V.
 2017
 27 S1 p. S14-S15
2 p.
 artikel
11 A two part, multi-centre, multiple dose study of Erythrocyte Encapsulated Thymidine Phosphorylase (EETP) in patients with Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) Nirmalananthan, N.
 2017
 27 S1 p. S21-S22
2 p.
 artikel
12 Audit of unplanned hospital admissions for patients with neuromuscular disorders in the North East Elliott, E.
 2017
 27 S1 p. S38-
1 p.
 artikel
13 Author index 2017
 27 S1 p. S45-S49
5 p.
 artikel
14 Binding to a novel RNA-protein complex creates specificity for small molecule splicing modifiers to treat SMA Sivaramakrishnan, M.
 2017
 27 S1 p. S33-
1 p.
 artikel
15 CACNA1S related congenital myopathy with periodic paralysis and goodresponse to acetazolamide Munot, P.
 2017
 27 S1 p. S35-S36
2 p.
 artikel
16 Cause of death in a cohort of mitochondrial patients Skorupinska, I.
 2017
 27 S1 p. S19-
1 p.
 artikel
17 Characterisation of MYO9A as a pre-synaptic CMS gene O’Connor, E.
 2017
 27 S1 p. S34-
1 p.
 artikel
18 Characterisation of the heat shock response in primary and ES-cell derived spinal motor neurons and astrocytes exposed to cellular stress conditions modelling ALS Clarke, B.
 2017
 27 S1 p. S28-
1 p.
 artikel
19 Chromosome X inactivation pattern in FSHD female patients Cao, M.
 2017
 27 S1 p. S5-
1 p.
 artikel
20 Clinical characterisation of a large international congenital titinopathy cohort Oates, E.C.
 2017
 27 S1 p. S37-
1 p.
 artikel
21 Clinical features and genetic findings in patients with Charcot Marie Tooth Disease Type 2 (CMT2) due to LRSAM1 mutation Cortese, A.
 2017
 27 S1 p. S25-
1 p.
 artikel
22 Clinical outcome study for dysferlinopathy: Sensitivity of outcome measures over one-year Moore, U.
 2017
 27 S1 p. S8-
1 p.
 artikel
23 Clinical research activity in the Newcastle MRC Centre for Neuromuscular Disease Peel, A.
 2017
 27 S1 p. S42-S43
2 p.
 artikel
24 Comprehensive genetic characterization of an Argentinian cohort with amyotrophic lateral sclerosis Schottlaender, L.V.
 2017
 27 S1 p. S31-
1 p.
 artikel
25 C9ORF72 and RAB7L1 regulate vesicle traffi cking in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Manzano, R.
 2017
 27 S1 p. S31-S32
2 p.
 artikel
26 CRISPR-mediated genome editing in human induced pluripotent stem cells for modelling FKRP-deficient dystroglycanopathies Kim, J.
 2017
 27 S1 p. S12-
1 p.
 artikel
27 Deep-phenotyping of the central nervous system in dystrophinopathies: the fear response Maresh, K.
 2017
 27 S1 p. S12-
1 p.
 artikel
28 Defects in mitochondrial DNA (mtDNA) replication cause mtDNA depletion, increased mtDNA turnover and increased mitophagy Lodge, T.
 2017
 27 S1 p. S23-S24
2 p.
 artikel
29 Detection of TRIM32 variants associated with LGMD2H in a large cohort of patients with unexplained limb-girdle weakness Johnson, K.
 2017
 27 S1 p. S41-
1 p.
 artikel
30 Developing digital tools for improving patient and family engagement in paediatric clinical research Veldhuizen, O.
 2017
 27 S1 p. S42-
1 p.
 artikel
31 Developing novel human isogenic cellular models for Duchenne muscular dystrophy Paredes-Redondo, A.
 2017
 27 S1 p. S6-
1 p.
 artikel
32 Development of a robust disease specific functional measure suitable for trials in ambulant and non-ambulant individuals with dysferlinopathy James, M.
 2017
 27 S1 p. S11-
1 p.
 artikel
33 Development of a validated Western blot method for quantification of human dystrophin protein used in phase 2 and 3 clinical trials of eteplirsen for the treatment of Duchenne muscular dystrophy Schnell, F.J.
 2017
 27 S1 p. S16-
1 p.
 artikel
34 Development of Cerebral Organoid cultures for the study of the neuronal pathomolecular mechanisms of Mitochondrial NeurogastroIntestinal Encephalomyopathy (MNGIE) Pacitti, D.
 2017
 27 S1 p. S18-
1 p.
 artikel
35 Diagnosing the undiagnosable: a targeted approach to genetic sequencingin unconfi rmed cases of skeletal muscle channelopathies Raja Rayan, D.L.
 2017
 27 S1 p. S35-
1 p.
 artikel
36 Diagnostic value of muscle MRI in rare congenital myopathies and collagen related muscular dystrophies McCrea, N.
 2017
 27 S1 p. S41-S42
2 p.
 artikel
37 Dystrophin quantification on Western blotting: comparative analysis of different methods Jones, A.
 2017
 27 S1 p. S15-
1 p.
 artikel
38 Evaluating the benefits of community based aerobic training on the physical health and well-being of people with neuromuscular disease Wallace, A.
 2017
 27 S1 p. S43-
1 p.
 artikel
39 Excessive daytime sleepiness, executive dysfunction and structural brain changes in myotonic dystrophy type 1: an update on the DM1-Neuro Study Hamilton, M.J.
 2017
 27 S1 p. S13-
1 p.
 artikel
40 Exercise related kidney failure due to SLC2A9 homozygous mutation Scalco, R.S.
 2017
 27 S1 p. S43-S44
2 p.
 artikel
41 Experimental trials in spinal muscular atrophy Finkel, R.
 2017
 27 S1 p. S2-
1 p.
 artikel
42 Expression profiling and bioinformatics analysis of dysregulated microRNAs (miRNAs) in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) Levene, M.
 2017
 27 S1 p. S20-
1 p.
 artikel
43 Falls in the over 50s with CMT: implications for clinical management Steele, H.E.
 2017
 27 S1 p. S28-
1 p.
 artikel
44 Functional fatigue in a sample of the UK myasthenic population Selby, V.
 2017
 27 S1 p. S36-S37
2 p.
 artikel
45 Functional validation of non-coding variants of GJB1 in patients with CMTX1 Cortese, A.
 2017
 27 S1 p. S25-
1 p.
 artikel
46 Generation of a mouse model of FSHD to reveal the DUX4 expression profile and dynamics Panamarova, M.
 2017
 27 S1 p. S14-
1 p.
 artikel
47 Genome editing to correct duplications in the dystrophin gene Pini, V.
 2017
 27 S1 p. S16-S17
2 p.
 artikel
48 Genotype-phenotype correlation analysis in GNE myopathy Pogoryelova, O.
 2017
 27 S1 p. S41-
1 p.
 artikel
49 Giant axonal neuropathy: natural history, outcome measures, and intrathecal AAV9 mediated gene transfer Bönnemann, C.G.
 2017
 27 S1 p. S2-
1 p.
 artikel
50 Global FKRP registry Robertson, A.
 2017
 27 S1 p. S6-
1 p.
 artikel
51 Hereditory Sensory Neuropathy Type 1 (SPTLC1): phenotypic variation in patients with the English founder mutation Kugathasan, U.
 2017
 27 S1 p. S26-S27
2 p.
 artikel
52 Human artificial chromosomes combined with iPS cells: a genomic integration-free therapy for Duchenne muscular dystrophy Ferrari, G.
 2017
 27 S1 p. S10-
1 p.
 artikel
53 Hypokalaemic periodic paralysis due to a novel ATP1A2 mutation: a new periodic paralysis gene? Matthews, E.
 2017
 27 S1 p. S33-
1 p.
 artikel
54 Impact of mitochondrial mutations on the metabolite-dependent epigenetic profile of human induced pluripotent stem cell derived myotubes O’Callaghan, B.
 2017
 27 S1 p. S18-
1 p.
 artikel
55 Improving genetic diagnosis and counselling for patients with myotoniacongenita Suetterlin, K.
 2017
 27 S1 p. S34-
1 p.
 artikel
56 Incidence and risk factors for neuropathy following primary total hip arthroplasty Nguyen, J.
 2017
 27 S1 p. S27-
1 p.
 artikel
57 Incidence and risk factors for neuropathy following primary total knee arthroplasty Nguyen, J.
 2017
 27 S1 p. S27-
1 p.
 artikel
58 Inhibition of the tyrosine phosphatase Shp2 alleviates the pathogeniceff ects of MuSK antibodies in vitro Huda, S.
 2017
 27 S1 p. S36-
1 p.
 artikel
59 Investigating dysfunctional RNA processing in TDP-43 mouse mutants Sivakumar, P.
 2017
 27 S1 p. S32-
1 p.
 artikel
60 Investigating inherent cellular changes in patient-derived mutant VCP fibroblasts as a model of inclusion body myopathy Spicer, C.
 2017
 27 S1 p. S38-
1 p.
 artikel
61 Investigating the role of nidogens, basement membrane proteins, at theneuromuscular junction in health and disease Meyer, I.F.G.
 2017
 27 S1 p. S34-
1 p.
 artikel
62 In vitro models of Charcot-Marie-Tooth disease for investigating disease pathomechanisms Sarajarvi, V.
 2017
 27 S1 p. S27-S28
2 p.
 artikel
63 Is cognitive impairment progressive in the mdx mouse? Bagdatlioglu, E.
 2017
 27 S1 p. S9-
1 p.
 artikel
64 Leigh Map: a novel diagnostic resource for mitochondrial disease Rahman, J.
 2017
 27 S1 p. S19-
1 p.
 artikel
65 Long-term treatment with the phosphorodiamidate morpholino oligomer eteplirsen in patients with Duchenne muscular dystrophy amenable to exon 51 skipping: analysis of dystrophin production Charleston, J.
 2017
 27 S1 p. S16-
1 p.
 artikel
66 Lung function in ataluren-treated, non-ambulatory patients with nonsense mutation Duchenne muscular dystrophy from a long-term extension trial versus untreated patients from a natural history study Luo, X.
 2017
 27 S1 p. S6-
1 p.
 artikel
67 Magnetic resonance imaging (MRI) semi-quantitative scoring in a subset of 20 myotonic dystrophy Type 1 patients and correlation with functional outcome measures Nikolenko, N.
 2017
 27 S1 p. S13-S14
2 p.
 artikel
68 Management of pregnancy and anaesthetic use in skeletal musclechannelopathy patients Raja Rayan, D.L.
 2017
 27 S1 p. S35-
1 p.
 artikel
69 Manipulating mtDNA heteroplasmy with designer zinc-finger nuclease technology Minczuk, M.
 2017
 27 S1 p. S2-S3
2 p.
 artikel
70 Microarray analysis of mdx mice overexpress estrogen-related receptor gamma (ERRγ) AL-Siyabi, M.
 2017
 27 S1 p. S17-
1 p.
 artikel
71 Microvascular defects secondary to SMN deficiency in spinal muscular atrophy Zhou, H.
 2017
 27 S1 p. S29-
1 p.
 artikel
72 Mitochondrial disease and lipid storage myopathy due to mutation in CHCHD10 or DNM1L and disordered mitochondrial dynamics Fratter, C.
 2017
 27 S1 p. S21-
1 p.
 artikel
73 Mitochondrial disease and pelvic organ dysfunction: an under-recognised but treatable clinical association Poole, O.V.
 2017
 27 S1 p. S22-
1 p.
 artikel
74 Mitochondrial dysfunction and abnormal calcium handling in cell models of Hereditary Sensory Neuropathy type I Wilson, E.
 2017
 27 S1 p. S25-S26
2 p.
 artikel
75 Mitochondrial dysfunction in a treatable childhood neuronopathy Manole, A.
 2017
 27 S1 p. S24-S25
2 p.
 artikel
76 Mitochondrial physiology is compromised by mutations in DNAJC3 and may contribute to the clinical presentation of diabetes and neurodegeneration Jennings, M.
 2017
 27 S1 p. S20-
1 p.
 artikel
77 Modulating mtDNA heteroplasmy with designer nucleases Bacman, S.R.
 2017
 27 S1 p. S3-
1 p.
 artikel
78 Modulation of cytoplasmic dynein and tubulin modification as potential therapeutic targets in SMA-LED Green, R.L.
 2017
 27 S1 p. S1-
1 p.
 artikel
79 Monitoring pregnancy in Charcot-Marie-Tooth disease: results of a survey Skorupinska, M.
 2017
 27 S1 p. S27-
1 p.
 artikel
80 MtDNA oxidation can induce PINK1-dependent mitophagy independently of mitochondrial depolarisation King, L.
 2017
 27 S1 p. S17-
1 p.
 artikel
81 Muscle magnetic resonance imaging in VCP-related multi-system proteinopathy (IBMPFD): is the clue in the “fat pockets”? Fernandez-Torrón, R.
 2017
 27 S1 p. S44-
1 p.
 artikel
82 Myofibrillar myopathy phenotype due to recessive mutations in MEGF10 Harris, E.
 2017
 27 S1 p. S9-
1 p.
 artikel
83 Myostatin inhibition for neuromuscular disorders: defining the good candidate Mariot, V.
 2017
 27 S1 p. S8-
1 p.
 artikel
84 Myotonic dystrophy trial readiness Nikolenko, N.
 2017
 27 S1 p. S3-
1 p.
 artikel
85 Myotubular and Centronuclear Myopathy Patient Registry: Accelerating the pace of research and treatment Bullivant, J.
 2017
 27 S1 p. S40-
1 p.
 artikel
86 Natural history of the heart in myotonic dystrophy type 1: a cardiac magnetic resonance imaging follow-up of 11 patients Jimenez-Moreno, A.C.
 2017
 27 S1 p. S7-S8
2 p.
 artikel
87 Necroptosis, a programmed form of necrosis participates in muscle degeneration in Duchenne muscular dystrophy Bencze, M.
 2017
 27 S1 p. S7-
1 p.
 artikel
88 Next generation sequencing in inherited myopathies Bugiardini, E.
 2017
 27 S1 p. S42-
1 p.
 artikel
89 NHE1 inhibition as a potential therapy to attenuate DMD pathology Ioannou, P.
 2017
 27 S1 p. S11-
1 p.
 artikel
90 Novel GFM2 variants identified in two cases of early-onset mitochondrial disease cause impaired expression of mtDNA encoded OXPHOS subunits Glasgow, R.I.C.
 2017
 27 S1 p. S22-
1 p.
 artikel
91 Outcome measures for Duchenne muscular dystrophy from ambulant to non-ambulant: implications for clinical trials Domingos, J.
 2017
 27 S1 p. S12-
1 p.
 artikel
92 Potential antisense oligonucleotide therapeutic approaches in COL6-related congenital muscular dystrophy Zhou, H.
 2017
 27 S1 p. S11-
1 p.
 artikel
93 Quantification of intramuscular fat accumulation in CMT1A using MRI: an international longitudinal study Morrow, J.M.
 2017
 27 S1 p. S26-
1 p.
 artikel
94 Quantitative magnetic resonance imaging of the skeletal muscle in a multi-center dysferlinopathy study: 1-year follow-up Smith, F.E.
 2017
 27 S1 p. S10-
1 p.
 artikel
95 RBCK1 mid-domain mutations with a phenotype spanning the entire spectrum of the condition: A rare polyglucosan storage disorder causing multisystem autoinflammation, immunodeficiency, cardiac and skeletal myopathy Phadke, R.
 2017
 27 S1 p. S43-
1 p.
 artikel
96 Recessive SCN4A loss of function in congenital myasthenic syndrome, congenital myopathy or fetal akinesia deformation sequence Thor, M.G.
 2017
 27 S1 p. S34-S35
2 p.
 artikel
97 Reduced Hedgehog signalling in Duchenne muscular dystrophy impairs muscle regeneration and function Devenport, S.
 2017
 27 S1 p. S13-
1 p.
 artikel
98 Remodelling of bioenergetic pathways in human fibroblasts with carbohydrates Protasoni, M.
 2017
 27 S1 p. S19-
1 p.
 artikel
99 Reproductive options in maternally inherited mitochondrial disease: ‘making sense’ Maddison, J.
 2017
 27 S1 p. S20-S21
2 p.
 artikel
100 Respiratory involvement in Facioscapulohumeral Dystrophy Moreira, S.
 2017
 27 S1 p. S9-
1 p.
 artikel
101 Salbutamol counteracts long-term adverse eff ects of pyridostigmine onstrength and neuromuscular junction structure in myasthenic mice Vanhaesebrouck, A.
 2017
 27 S1 p. S36-
1 p.
 artikel
102 Secretion of toxic exosomes by muscle cells of ALS patients: role in ALS pathogenesis Le Gall, L.
 2017
 27 S1 p. S32-
1 p.
 artikel
103 Semi-quantitative muscle MRI in dysferlinopathy patients: pattern recognition and implications for clinical trials Díaz-Manera, J.
 2017
 27 S1 p. S14-
1 p.
 artikel
104 Serum muscle damage markers in the idiopathic inflammatory myopathies: quantifying disease activity and identifying cardiac involvement Lilleker, J.B.
 2017
 27 S1 p. S39-S40
2 p.
 artikel
105 Service evaluation exploring the incidence of vestibular and balance dysfunction in people with mitochondrial disease Holmes, S.
 2017
 27 S1 p. S22-S23
2 p.
 artikel
106 Skeletal muscle channelopathies: new phenotypes and new genes Matthews, E.
 2017
 27 S1 p. S3-S4
2 p.
 artikel
107 Skeletal muscle dysfunction and mitochondrial deficits in spinal muscular atrophy (SMA) Hellbach, N.
 2017
 27 S1 p. S30-
1 p.
 artikel
108 SMA REACH UK: Relationship between the Revised Hammersmith Scale (RHS) and Revised Upper Limb Module (RULM) in a UK cohort of patients with SMA type 2 and 3 Tillmann, R.
 2017
 27 S1 p. S43-
1 p.
 artikel
109 SMN depletion causes defects in endosomal trafficking that impair synaptic function Dimitriadi, M.
 2017
 27 S1 p. S31-
1 p.
 artikel
110 Spinal muscular atrophy: a global view on the burden of illness and clinical trial readiness Verhaart, I.E.C.
 2017
 27 S1 p. S30-
1 p.
 artikel
111 STAC3 p.Trp284Ser associated with congenital myopathy with distinctive dysmorphic features and malignant hyperthermia Zaharieva, I.
 2017
 27 S1 p. S39-
1 p.
 artikel
112 Studying mdx cardiomyocyte hypertrophy in vitro Carr, S.
 2017
 27 S1 p. S15-S16
2 p.
 artikel
113 SysMyo: tailored bioinformatics tools for omics data exploration in muscular dystrophy and other neuromuscular disorders Thorley, M.
 2017
 27 S1 p. S8-
1 p.
 artikel
114 Telethonin gene mutations detected by next generation sequencing Hudson, J.
 2017
 27 S1 p. S15-
1 p.
 artikel
115 The glucocorticoid-KLF15-BCAA pathway as a novel therapeutic target for spinal muscular atrophy Walter, L.M.
 2017
 27 S1 p. S28-S29
2 p.
 artikel
116 The MYO-SEQ project: application of exome sequencing technologies to 1000 patients affected by limb-girdle weakness of unknown origin Johnson, K.
 2017
 27 S1 p. S40-
1 p.
 artikel
117 The power of genetic modifiers in spinal muscular atrophy Wirth, B.
 2017
 27 S1 p. S2-
1 p.
 artikel
118 The role of the TWEAK/Fn14 pathway in muscle pathology in SMA Meijboom, K.E.
 2017
 27 S1 p. S30-
1 p.
 artikel
119 The TREAT-NMD Advisory Committee for Therapeutics (TACT): facilitating drug development in neuromuscular rare diseases Turner, C.
 2017
 27 S1 p. S37-
1 p.
 artikel
120 Thromboembolic risk in inflammatory neuromuscular disease patients on long-term IVIg Spillane, J.
 2017
 27 S1 p. S24-
1 p.
 artikel
121 Towards objective and reproducible measures of thigh muscle fat fraction in patients with Duchenne Muscular Dystrophy Fischmann, A.
 2017
 27 S1 p. S7-
1 p.
 artikel
122 TPK1 mutations: unmasking a potentially treatable cause of Leigh-like syndrome Bugiardini, E.
 2017
 27 S1 p. S23-
1 p.
 artikel
123 Trial readiness in children with mitochondrial disease: selection of outcome measures Koene, S.
 2017
 27 S1 p. S3-
1 p.
 artikel
124 Trk receptor signalling and sensory neuron fate are perturbed in human neuropathy caused by Gars mutations Sleigh, J.N.
 2017
 27 S1 p. S26-
1 p.
 artikel
125 Understanding carer resilience in Duchenne muscular dystrophy Glover, S.
 2017
 27 S1 p. S10-S11
2 p.
 artikel
126 Understanding how ionizing radiation enhances satellite cell engraftment in mdxnu/nu mouse skeletal muscle Gonzalez, B.D.
 2017
 27 S1 p. S7-
1 p.
 artikel
127 Understanding the mechanisms contributing to Alpers’ neuropathology Anagnostou, M.-E.
 2017
 27 S1 p. S19-S20
2 p.
 artikel
128 Unravelling the role of androgen receptor splice variants in the mechanisms of pathogenesis of spinal and bulbar muscular atrophy Lieto, M.
 2017
 27 S1 p. S30-S31
2 p.
 artikel
129 Using a quantitative quadruple immunofluorescent assay to detect isolated Complex I deficiency Ahmed, S.T.
 2017
 27 S1 p. S23-
1 p.
 artikel
130 Using stem cells and light to restore function to paralysed muscles Bryson, B.
 2017
 27 S1 p. S1-
1 p.
 artikel
131 Vision DMD: A drug development program for vamorolone in Duchenne muscular dystrophy Guglieri, M.
 2017
 27 S1 p. S17-
1 p.
 artikel
                             131 gevonden resultaten
 
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