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Volker Straub
Volker Straub
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Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2 …
S Cirak, V Arechavala-Gomeza, M Guglieri, L Feng, S Torelli, K Anthony, ...
The Lancet 378 (9791), 595-605, 2011
11602011
Prevalence and architecture of de novo mutations in developmental disorders
Nature 542 (7642), 433-438, 2017
8922017
Post-translational disruption of dystroglycan–ligand interactions in congenital muscular dystrophies
DE Michele, R Barresi, M Kanagawa, F Saito, RD Cohn, JS Satz, J Dollar, ...
Nature 418 (6896), 417-421, 2002
8842002
Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of …
M Kinali, V Arechavala-Gomeza, L Feng, S Cirak, D Hunt, C Adkin, ...
The Lancet Neurology 8 (10), 918-928, 2009
8812009
Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1
A Yoshida, K Kobayashi, H Manya, K Taniguchi, H Kano, M Mizuno, ...
Developmental cell 1 (5), 717-724, 2001
8552001
The human phenotype ontology in 2017
S Köhler, NA Vasilevsky, M Engelstad, E Foster, J McMurry, S Aymé, ...
Nucleic acids research 45 (D1), D865-D876, 2017
8112017
The TREAT‐NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations
CL Bladen, D Salgado, S Monges, ME Foncuberta, K Kekou, K Kosma, ...
Human mutation 36 (4), 395-402, 2015
7142015
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing
BB Cummings, JL Marshall, T Tukiainen, M Lek, S Donkervoort, AR Foley, ...
Science translational medicine 9 (386), eaal5209, 2017
6652017
A phase I/IItrial of MYO‐029 in adult subjects with muscular dystrophy
KR Wagner, JL Fleckenstein, AA Amato, RJ Barohn, K Bushby, ...
Annals of neurology 63 (5), 561-571, 2008
6122008
Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population
FLM Norwood, C Harling, PF Chinnery, M Eagle, K Bushby, V Straub
Brain 132 (11), 3175-3186, 2009
5992009
Animal models for muscular dystrophy show different patterns of sarcolemmal disruption
V Straub, JA Rafael, JS Chamberlain, KP Campbell
The Journal of cell biology 139 (2), 375-385, 1997
5891997
Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C
M Brockington, Y Yuva, P Prandini, SC Brown, S Torelli, MA Benson, ...
Human molecular genetics 10 (25), 2851-2859, 2001
5792001
Muscular dystrophies and the dystrophin-glycoprotein complex
V Straub, KP Campbell
Current opinion in neurology 10, 168-175, 1997
5181997
Disruption of the sarcoglycan–sarcospan complex in vascular smooth muscle: a novel mechanism for cardiomyopathy and muscular dystrophy
R Coral-Vazquez, RD Cohn, SA Moore, JA Hill, RM Weiss, RL Davisson, ...
Cell 98 (4), 465-474, 1999
4601999
Refining genotype–phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan
C Godfrey, E Clement, R Mein, M Brockington, J Smith, B Talim, V Straub, ...
Brain 130 (10), 2725-2735, 2007
4582007
Progressive muscular dystrophy in α-sarcoglycan–deficient mice
F Duclos, V Straub, SA Moore, DP Venzke, RF Hrstka, RH Crosbie, ...
The Journal of cell biology 142 (6), 1461-1471, 1998
4261998
Managing Duchenne muscular dystrophy–the additive effect of spinal surgery and home nocturnal ventilation in improving survival
M Eagle, J Bourke, R Bullock, M Gibson, J Mehta, D Giddings, V Straub, ...
Neuromuscular disorders 17 (6), 470-475, 2007
4102007
Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology …
A Ferreiro, S Quijano-Roy, C Pichereau, B Moghadaszadeh, N Goemans, ...
The American Journal of Human Genetics 71 (4), 739-749, 2002
3972002
Safety and efficacy of drisapersen for the treatment of Duchenne muscular dystrophy (DEMAND II): an exploratory, randomised, placebo-controlled phase 2 study
T Voit, H Topaloglu, V Straub, F Muntoni, N Deconinck, G Campion, ...
The Lancet Neurology 13 (10), 987-996, 2014
3732014
229th ENMC international workshop: Limb girdle muscular dystrophies–Nomenclature and reformed classification Naarden, the Netherlands, 17–19 March 2017
V Straub, A Murphy, B Udd, A Corrado, S Aymé, C Bönneman, ...
Neuromuscular Disorders 28 (8), 702-710, 2018
3192018
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Artikelen 1–20