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                             130 gevonden resultaten
nr titel auteur tijdschrift jaar jaarg. afl. pagina('s) type
1 Abstract withdrawn 2018
 28 S1 p. S31
 artikel
2 Adrenergic agonists modulate neuromuscular junction formation in zebrafish models of human myasthenic syndromes McMacken, G.
 2018
 28 S1 p. S28
 artikel
3 AMO-02 (tideglusib) for the treatment of congenital and childhood onset myotonic dystrophy type 1 Horrigan, J.
 2018
 28 S1 p. S14
 artikel
4 Analysis of premature mortality in a cohort of adult Duchenne muscular dystrophy Nastasi, L.
 2018
 28 S1 p. S18
 artikel
5 An audit of acetazolamide use in genetic channelopathies Suetterlin, K.
 2018
 28 S1 p. S27
 artikel
6 An international collaboration applying targeted whole exome sequencing to detect causative variants in 1001 patients affected by limb-girdle weakness of unknown origin Johnson, K.
 2018
 28 S1 p. S39
 artikel
7 A novel mutation in the MAGEL2 gene in a patient with arthrogryposis, severe global developmental delay and autistic features Ardicli, D.
 2018
 28 S1 p. S36-S37
 artikel
8 A phase 2 trial of the safety and pharmacokinetics of ataluren in patients aged ≥2 to <5 years with nonsense mutation Duchenne muscular dystrophy Kong, R.
 2018
 28 S1 p. S12-S13
 artikel
9 Assessment of a 6-minute walk test (6MWT) for non-invasive, phenotypic evaluation of deltaE50-MD dogs, a preclinical model of Duchenne muscular dystrophy Harron, R.
 2018
 28 S1 p. S15
 artikel
10 Ataluren increases functional expression of R894X mutant skeletal muscle voltage gated chloride channels in vitro Suetterlin, K.
 2018
 28 S1 p. S29
 artikel
11 Author index 2018
 28 S1 p. S43-S48
 artikel
12 Beneficial effect of salbutamol added to pyridostigmine in myasthenic mice is directly related to neuromuscular junction structure changes Vanhaesebrouck, A.
 2018
 28 S1 p. S29-S30
 artikel
13 Biallelic mutations in Oxa1l cause a mitochondrial encephalopathy and combined oxidative phosphorylation dysfunction Thompson, K.
 2018
 28 S1 p. S34
 artikel
14 Biochemical markers of primary mitochondrial respiratory chain enzyme disorders Lam, A.
 2018
 28 S1 p. S31
 artikel
15 Brain imaging indicates genotype-phenotype association in Duchenne muscular dystrophy Doorenweerd, N.
 2018
 28 S1 p. S10
 artikel
16 Can forced vital capacity (FVC) or maximal inspiratory pressure (MIP) be used to predict changes in mobility, swallowing and/or cough peak flow in patients with type 1 myotonic dystrophy? Massey, C.
 2018
 28 S1 p. S8
 artikel
17 Cardiorespiratory function in Duchenne muscular dystrophy in a UK large tertiary care centre: longitudinal progression and the role of steroid treatment Domingos, J.
 2018
 28 S1 p. S14-S15
 artikel
18 Characterising the skeletal muscle histological phenotype of the DeltaE50-MD dog, a preclinical model of Duchenne muscular dystrophy Hildyard, J.
 2018
 28 S1 p. S18
 artikel
19 Clinical and Genetic analysis of Egyptian hereditary spastic paraplegia using next generation sequencing Haridy, N.A.
 2018
 28 S1 p. S38
 artikel
20 Clinical Outcome Study of Dysferlinopathy: what are the best outcome measures for dysferlinopathy patients? James, M.K.
 2018
 28 S1 p. S6
 artikel
21 Clinical relevance of regular blood monitoring in long-term immunoglobulin treatment Compton, L.
 2018
 28 S1 p. S20
 artikel
22 Clinical research activity in the Newcastle MRC Centre for Neuromuscular Disease Peel, A.
 2018
 28 S1 p. S39-S40
 artikel
23 Clonally expanded mtDNA deletions in human skeletal muscle originate as a proliferative perinuclear niche Vincent, A.E.
 2018
 28 S1 p. S34-S35
 artikel
24 Combining iPS cell-derived myogenic progenitors and human artificial chromosomes as a potential genomic integration-free cell and gene therapy for Duchenne muscular dystrophy Ferrari, G.
 2018
 28 S1 p. S9
 artikel
25 Comparison of clinical factors that impact disease activity in patients with inflammatory neuropathies Kapoor, M.
 2018
 28 S1 p. S21-S22
 artikel
26 Correlation between flow cytometry, histology and genetic findings for the diagnosis of collagen VI-related myopathies Ala, P.
 2018
 28 S1 p. S41
 artikel
27 CRISPR/Cas9-mediated knockout of RTN4IP1 leads to a severe Complex I assembly defect Oláhová, M.
 2018
 28 S1 p. S32-S33
 artikel
28 Determination of the minimal clinically important difference (MCID) for clinical trial outcome measures in Duchenne Muscular Dystrophy (DMD) Pitchforth, J.M.
 2018
 28 S1 p. S17
 artikel
29 Determining the threshold for Complex I and Complex IV deficiency in patients with the m.3243A>G MT-TL1 mutation Ahmed, S.T.
 2018
 28 S1 p. S30
 artikel
30 Developing a novel technique of imaging mass cytometry for use in skeletal muscle Warren, C.
 2018
 28 S1 p. S35
 artikel
31 Development of a home-based assessment tool for monitoring fluctuations in physical function and muscle performance in the myasthenic population Selby, V.
 2018
 28 S1 p. S29
 artikel
32 Development of CRISPR/dCas9 systems to address muscle fibrosis in Duchenne muscular dystrophy March, J.T.
 2018
 28 S1 p. S7
 artikel
33 Diagnostic challenges in paediatric anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase (anti-HMGCR) necrotizing myopathy Pal-Magdics, M.
 2018
 28 S1 p. S39
 artikel
34 Dissecting TDP-43 gain- and loss-of-function in neurodegeneration Sivakumar, P.
 2018
 28 S1 p. S26
 artikel
35 DMD HUB: expanding clinical trial capacity for Duchenne muscular dystrophy in the UK Heslop, E.
 2018
 28 S1 p. S38
 artikel
36 Do diverse Charcot-Marie-Tooth disease-causing mutations show convergent disease pathomechanisms? Investigation of mitochondrial dysfunction in CMT Sarajarvi, V.
 2018
 28 S1 p. S23
 artikel
37 Downregulation of miR-29 and miR-23 in urine of Duchenne muscular dystrophy patients Catapano, F.
 2018
 28 S1 p. S18-S19
 artikel
38 Dystrophin quantification in Duchenne and Becker muscular dystrophy: correlation between dystrophin protein and clinical phenotype Sardone, V.
 2018
 28 S1 p. S7-S8
 artikel
39 Effect of idebenone on bronchopulmonary adverse events and hospitalizations in patients with Duchene muscular dystrophy (DMD) Lawrence, C.
 2018
 28 S1 p. S16-S17
 artikel
40 Effects of mini-dystrophin on DMD skeletal muscle stem cells Meng, J.
 2018
 28 S1 p. S16
 artikel
41 Efficacy of idebenone in respiratory decline in Duchenne muscular dystrophy (DMD): comparison of analysis methods Warnock, A.
 2018
 28 S1 p. S17
 artikel
42 Establishing motor neuron and astrocytic cultures to study spinal and bulbar muscular atrophy Devine, H.E.
 2018
 28 S1 p. S24-S25
 artikel
43 Evaluating the 12-minute walk test in McArdle disease Chatfield, S.
 2018
 28 S1 p. S38
 artikel
44 Extracellular myomiR abundance is not clearly correlated with skeletal muscle dystrophin expression in mdx mice with skewed X-chromosome inactivation van Westering, T.
 2018
 28 S1 p. S19
 artikel
45 Frequency of genetic variants in Charcot-Marie-Tooth disease: how many is too many? Pipis, M.
 2018
 28 S1 p. S22
 artikel
46 Functional characterisation of a mouse model of DOK7 congenital myasthenic syndrome and response to treatment with salbutamol Webster, R.G.
 2018
 28 S1 p. S26-S27
 artikel
47 Gene delivery translation: lessons learned Kaspar, B.
 2018
 28 S1 p. S1
 artikel
48 Generation of three-dimensional artificial skeletal muscle constructs from human pluripotent stem cells for complex disease modelling of muscular dystrophies Maffioletti, S.M.
 2018
 28 S1 p. S13
 artikel
49 Genes, modifiers and other oddities in mitochondrial translation deficiencies Horvath, R.
 2018
 28 S1 p. S3
 artikel
50 Genetic investigation of inherited neuropathy in families from Middle East using next generation sequencing Khan, A.M.
 2018
 28 S1 p. S22
 artikel
51 Golodirsen induces exon skipping leading to sarcolemmal dystrophin expression in patients with genetic mutations amenable to exon 53 skipping Muntoni, F.
 2018
 28 S1 p. S5
 artikel
52 Identification of a novel kinase target in DM pathophysiology Ketley, A.
 2018
 28 S1 p. S37
 artikel
53 Immunoglobulin dosing in inflammatory neuropathy: an induction, maintenance and cessation algorithm Groves, J.
 2018
 28 S1 p. S20-S21
 artikel
54 In-depth analysis of circulating microRNAs in serum of SMA patients Zaharieva, I.
 2018
 28 S1 p. S26
 artikel
55 Interrogating mitochondrial dysfunction and ageing in facial appearance and ageing Stefanetti, R.J.
 2018
 28 S1 p. S33-S34
 artikel
56 Investigating the mechanisms involved in germline transmission of a heteroplasmic mtDNA variant Burr, S.P.
 2018
 28 S1 p. S36
 artikel
57 In vitro modelling of mitochondrial disease using human induced pluripotent stem cell (hIPSC) derived myotubes harbouring mtDNA mutations O’Callaghan, B.
 2018
 28 S1 p. S32
 artikel
58 Is cardiac dysfunction a feature of dysferlinopathy? Data from the Clinical Outcome Study of Dysferlinopathy Tiet, M.
 2018
 28 S1 p. S5-S6
 artikel
59 Longitudinal neuropsychological outcomes and structural connectivity of the brain in Duchenne muscular dystrophy Maresh, K.E.
 2018
 28 S1 p. S11
 artikel
60 Longitudinal upper limb muscle MRI in dysferlinopathy: examining the relationship between semi quantitative MRI and physiotherapy outcome measures Fernández-Torrón, R.
 2018
 28 S1 p. S6-S7
 artikel
61 Low mitochondrial DNA copy number suggests abnormal mitophagy in inclusion body myositis Brady, S.
 2018
 28 S1 p. S30
 artikel
62 Manipulating mitochondrial ROS production as a therapeutic strategy Murphy, M.
 2018
 28 S1 p. S4
 artikel
63 Masseter muscle volume correlates with disease duration in adults with myotonic dystrophy type 1 (DM1) Hocking, C.
 2018
 28 S1 p. S10-S11
 artikel
64 McArdle disease patient completing the London Marathon with no serious adverse events Pietrusz, A.
 2018
 28 S1 p. S40
 artikel
65 Measuring activity and sedentary behaviour in people with muscle ion channelopathy and myotonic dystrophy type 1, and assessing the use of individual goal setting to support increasing habitual physical activity Holmes, S.
 2018
 28 S1 p. S14
 artikel
66 Meta-analyses of ataluren in patients with nonsense mutation Duchenne muscular dystrophy Muntoni, F.
 2018
 28 S1 p. S12
 artikel
67 Metabolomics analysis in serum of muscular dystrophy patients Spitali, P.
 2018
 28 S1 p. S9-S10
 artikel
68 Mitochondrial genetic diagnostics in Oxford: a 25-year journey of service developments and novel findings Fratter, C.
 2018
 28 S1 p. S31
 artikel
69 Mitochondrial ribosomal protein S25 (MRPS25) mutations impair ribosomal assembly and cause mitochondrial encephalomyopathy with partial agenesis of the corpus callosum Bugiardini, E.
 2018
 28 S1 p. S30-S31
 artikel
70 Molecular diagnostics of Mendelian disorders via RNA sequencing Prokisch, H.
 2018
 28 S1 p. S3-S4
 artikel
71 Monitoring pregnancy in Charcot-Marie-Tooth disease: complications related to pregnancy and delivery Skorupinska, M.
 2018
 28 S1 p. S24
 artikel
72 MRI evaluation of the pelvic limb and lumbar muscles of the deltaE50-MD dog model of Duchenne muscular dystrophy Hornby, N.
 2018
 28 S1 p. S15
 artikel
73 mtDNA polymorphic variants as metabolic hubs Gomez-Duran, A.
 2018
 28 S1 p. S35-S36
 artikel
74 Multiple administration of allo-CDCs showed additional improvement when compared with single treatment in a Duchenne muscular dystrophy model Johnson, J.
 2018
 28 S1 p. S15
 artikel
75 Multi-system disorder and severe recurrent rhabdomyolysis due to TANGO2 mutations in a 3-year-old child Ricci, F.
 2018
 28 S1 p. S41-S42
 artikel
76 Muscle and neuronal peripheral biomarkers for spinal and bulbar muscle atrophy: muscle holds more promise Ziff, O.
 2018
 28 S1 p. S26
 artikel
77 Muscle MRI can be normal in children with RYR1 and COL6 gene-related myopathies Sa, M.
 2018
 28 S1 p. S40-S41
 artikel
78 Myostatin expression in neuromuscular diseases Mariot, V.
 2018
 28 S1 p. S2
 artikel
79 Myostatin is a reliable biomarker for monitoring drug response in DMD Mariot, V.
 2018
 28 S1 p. S19
 artikel
80 Natural history and mortality studies in mitochondrial diseases: a systematic literature review Skorupinska, I.
 2018
 28 S1 p. S33
 artikel
81 Neuro-muscular bridges: development of an evidence based selfmanagement resource for people with neuro-muscular diseases Ramdharry, G.M.
 2018
 28 S1 p. S40
 artikel
82 Neuropathophysiology of Duchenne muscular dystrophy: involvement of the dystrophin isoform Dp71 in cell migration and proliferation Ash, A.
 2018
 28 S1 p. S13-S14
 artikel
83 Novel loss-of-function mutation in ACBD5 found in family with ataxia Sullivan, R.
 2018
 28 S1 p. S42
 artikel
84 Oligonucleotide therapies for neuromuscular disease Wood, M.J.A.
 2018
 28 S1 p. S1
 artikel
85 Outcome measures for central nervous system symptoms in myotonic dystrophy type 1: insights from a case-controlled study Hamilton, M.J.
 2018
 28 S1 p. S11
 artikel
86 Pilot study to explore the frequency and severity of pain in skeletal muscle channelopathies James, N.
 2018
 28 S1 p. S28
 artikel
87 Plasma neurofilament light chain levels are raised in patients with inherited peripheral neuropathy and correlate with disease severity Rossor, A.M.
 2018
 28 S1 p. S23
 artikel
88 Potential and challenges of using NMRI/NMRS as a biomarker/endpoint for clinical studies in neuromuscular disease Carlier, P.G.
 2018
 28 S1 p. S2-S3
 artikel
89 Preliminary data from a survey looking at walking aid use in people with Charcot-Marie-Tooth disease Dudziec, M.
 2018
 28 S1 p. S20
 artikel
90 Prevent skeletal muscle aging signs in progeric mice model: is it possible? Alyodawi, K.
 2018
 28 S1 p. S36
 artikel
91 Profile of circadianly regulated metabolic genes in dystrophic heart Betts, C.A.
 2018
 28 S1 p. S19
 artikel
92 Progressive age-associated decline in resistance to electrically-induced repetitive eccentric tibiotarsal flexion torque in the deltaE50-MD dog Riddell, D.
 2018
 28 S1 p. S16
 artikel
93 Proteomic evaluation of Pip6a-PMO treatment for myotonic dystrophy type 1 Holland, A.
 2018
 28 S1 p. S8-S9
 artikel
94 Pulmonary function in patients with advanced-stage Duchenne muscular dystrophy: eteplirsen-treated patients compared with a natural history cohort Gordish-Dressman, H.
 2018
 28 S1 p. S11-S12
 artikel
95 Quantitative 3D mapping of the skeletal muscle mitochondrial network in health and mtDNA disease Vincent, A.E.
 2018
 28 S1 p. S34
 artikel
96 Quantitative methods to monitor RNA biomarkers in myotonic dystrophy Wojciechowska, M.
 2018
 28 S1 p. S8
 artikel
97 RCT of bumetanide in hypokalaemic periodic paralysis (HypoPP) using abductor digiti minimi compound muscle action potential (CMAP) as an objective outcome measure Scalco, R.S.
 2018
 28 S1 p. S27
 artikel
98 Reducing unplanned hospital admissions in patients with neuromuscular diseases: an NHS re-audit Scalco, R.S.
 2018
 28 S1 p. S41
 artikel
99 Referrals to psychology within a neuromuscular service: what do patients want to talk about? Pattni, J.
 2018
 28 S1 p. S41
 artikel
100 Region specific glial stress responses: implications for ALS Clarke, B.
 2018
 28 S1 p. S25
 artikel
101 Risk factors for nerve injury after total hip arthroplasty: a case control study Shetty, T.
 2018
 28 S1 p. S23-S24
 artikel
102 Risk factors for nerve injury after total knee arthroplasty: a case control study Shetty, T.
 2018
 28 S1 p. S24
 artikel
103 RNA toxicity versus GSK3B dysfunction in myotonic dystrophy type 1: an exploratory review of the literature Gomes, T.
 2018
 28 S1 p. S7
 artikel
104 Serum biomarker discovery for Charcot-Marie-Tooth disease Jennings, M.J.
 2018
 28 S1 p. S21
 artikel
105 Slice profile-corrected maximum likelihood estimation of muscle water T2 Zafeiropoulos, N.
 2018
 28 S1 p. S42
 artikel
106 Slope analysis of 6-minute walk distance as an alternative method to determine treatment effect in trials in Duchenne muscular dystrophy Trifillis, P.
 2018
 28 S1 p. S13
 artikel
107 Strategies for treating myotonic dystrophy type 1 (DM1) Thornton, C.
 2018
 28 S1 p. S1
 artikel
108 Strengthening the neuromuscular junction as a concept for the treatment of congenital myasthenic syndromes and motor neuropathies with synaptic dysfunction Howarth, R.
 2018
 28 S1 p. S29
 artikel
109 Strength training in McArdle disease Pietrusz, A.
 2018
 28 S1 p. S40
 artikel
110 Targeting ubiquitin pathways to develop new therapies for neuromuscular disease Gillingwater, T.H.
 2018
 28 S1 p. S2
 artikel
111 Testing a novel therapy in a MYO9A-related Congenital Myasthenic Syndrome zebrafish model O’Connor, E.
 2018
 28 S1 p. S27-S28
 artikel
112 The changing scenario of molecular genetic diagnostics for neuromuscular diseases Ferlini, A.
 2018
 28 S1 p. S3
 artikel
113 The genomic era: molecular genetics as the first line investigation Raymond, F.L.
 2018
 28 S1 p. S3
 artikel
114 The “hidden” mitochondrial genome: a novel bioinformatic approach for extracting and analysing mitochondrial DNA from nuclear genomic NGS sequence data at the Institute of Neurology, Queen Square Poole, O.V.
 2018
 28 S1 p. S33
 artikel
115 The maintenance of muscle mass through the neutralisation of Myostatin activity in diseases and aging Patel, K.
 2018
 28 S1 p. S2
 artikel
116 The natural history of POEMS syndrome Keddie, S.
 2018
 28 S1 p. S22
 artikel
117 Therapeutic advances in hereditary ATTR amyloidosis Hawkins, P.
 2018
 28 S1 p. S1
 artikel
118 The role of nidogens, a family of basement membrane proteins, at the neuromuscular junction in health and degeneration Meyer, I.F.G.
 2018
 28 S1 p. S28
 artikel
119 The UK Myotonic Dystrophy Patient Registry: a key tool in the facilitation of clinical research Cammish, P.
 2018
 28 S1 p. S17-S18
 artikel
120 The use of nusinersen in the “real world”: the UK and Ireland experience with the expanded access program (EAP) Scoto, M.
 2018
 28 S1 p. S25
 artikel
121 Timing and localization of human dystrophin isoform expression provide insights into the cognitive phenotype of Duchenne muscular dystrophy Doorenweerd, N.
 2018
 28 S1 p. S10
 artikel
122 Translating discovery science into treatments for patients: observational cohort studies at the MRC Centre for Neuromuscular Diseases Bellin, A.
 2018
 28 S1 p. S37
 artikel
123 Understanding the mechanism underpinning the transmission of mtDNA mutations Pezet, M.
 2018
 28 S1 p. S35
 artikel
124 Unusual presentation of neuropathy related to lead toxicity mimicking Guillain-Barré syndrome Sarraf, P.
 2018
 28 S1 p. S23
 artikel
125 Update of antisense oligonucleotide therapy in COL6-related congenital muscular dystrophy Zhou, H.
 2018
 28 S1 p. S15-S16
 artikel
126 Use of a ≥5-second threshold in baseline time to stand from supine to predict disease progression in Duchenne muscular dystrophy McDonald, C.M.
 2018
 28 S1 p. S12
 artikel
127 Using zebrafish to model mitochondrial DNA depletion syndromes caused by DGUOK mutations Müller, J.S.
 2018
 28 S1 p. S31-S32
 artikel
128 Variants in PTCD1 cause combined respiratory chain deficiency and mitoribosomal instability associated with infantile cardiomyopathy Oláhová, M.
 2018
 28 S1 p. S32
 artikel
129 What is wrong with nuclei in Transportin 3 (TPNO3)-related muscular dystrophy? Curtis-Wetton, E.
 2018
 28 S1 p. S9
 artikel
130 Zebrafish as a model of diseases of the RNA exosome Burns, D.T.
 2018
 28 S1 p. S37-S38
 artikel
                             130 gevonden resultaten
 
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