R
Ralf Herrmann
Researcher at University of Duisburg-Essen
Publications - 33
Citations - 3114
Ralf Herrmann is an academic researcher from University of Duisburg-Essen. The author has contributed to research in topics: Congenital muscular dystrophy & Muscular dystrophy. The author has an hindex of 24, co-authored 33 publications receiving 2911 citations.
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Journal ArticleDOI
Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1.
Aruto Yoshida,Kazuhiro Kobayashi,Hiroshi Manya,Kiyomi Taniguchi,Hiroki Kano,Mamoru Mizuno,Toshiyuki Inazu,Hideyo Mitsuhashi,Seiichiro Takahashi,Makoto Takeuchi,Ralf Herrmann,Volker Straub,Beril Talim,Thomas Voit,Haluk Topaloglu,Tatsushi Toda,Tamao Endo +16 more
TL;DR: It is suggested that interference in O-mannosyl glycosylation is a new pathomechanism for muscular dystrophy as well as neuronal migration disorder.
Journal ArticleDOI
Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C
Martin Brockington,Y Yuva,Paola Prandini,Susan C. Brown,Silvia Torelli,Matthew A. Benson,Ralf Herrmann,Louise V.B. Anderson,Rumaisa Bashir,Jean-Marc Burgunder,Shari Fallet,Norma B. Romero,Michel Fardeau,Volker Straub,Gillian Storey,C Pollitt,Isabelle Richard,Caroline Sewry,Kate Bushby,Thomas Voit,Derek J. Blake,Francesco Muntoni +21 more
TL;DR: The spectrum of LGMD2I phenotypes ranged from infants with an early presentation and a Duchenne-like disease course including cardiomyopathy, to milder phenotypes compatible with a favourable long-term outcome, and at least two possible haplotypes in linkage disequilibrium with this mutation.
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Phenotypic spectrum associated with mutations in the fukutin‐related protein gene
Eugenio Mercuri,Eugenio Mercuri,Eugenio Mercuri,Martin Brockington,Volker Straub,Susana Quijano-Roy,Y Yuva,Ralf Herrmann,Susan C. Brown,Silvia Torelli,Victor Dubowitz,Derek J. Blake,Norma B. Romero,Brigitte Estournet,Caroline Sewry,Pascale Guicheney,Thomas Voit,Francesco Muntoni +17 more
TL;DR: Twenty patients with mutations in the fukutin‐related protein (FKPR) gene showed a Duchenne‐like course with loss of ambulation in the early teens while 7 had a milder phenotype and patients with LGMD2I shared a common mutation and their phenotypic severity was correlated with the second allelic mutation.
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Mutations in the Slow Skeletal Muscle Fiber Myosin Heavy Chain Gene (MYH7) Cause Laing Early-Onset Distal Myopathy (MPD1)
Christopher Meredith,Ralf Herrmann,Cheryl Parry,Khema Liyanage,Danielle E. Dye,Hayley J. Durling,Rachael M. Duff,Kaye Beckman,Marianne de Visser,Maaike M. van der Graaff,Peter Hedera,John K. Fink,Elizabeth M. Petty,Phillipa J. Lamont,Vicki Fabian,Leslie R. Bridges,Thomas Voit,Frank L. Mastaglia,Nigel G. Laing +18 more
TL;DR: It is demonstrated that heterozygous mutations toward the 3' end of MYH7 cause Laing-type early-onset distal myopathy, the fourth distal-myopathy gene to have been identified.
Journal ArticleDOI
Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect.
Jan Senderek,Jan Senderek,Juliane S. Müller,Marina Dusl,Tim M. Strom,Velina Guergueltcheva,Irmgard Diepolder,Steven H. Laval,Susan Maxwell,Judy Cossins,Sabine Krause,Nuria Muelas,Juan J. Vílchez,Jaume Colomer,Cecilia Jimenez Mallebrera,Andrés Nascimento,Shahriar Nafissi,Ariana Kariminejad,Yalda Nilipour,Bita Bozorgmehr,Hossein Najmabadi,Carmelo Rodolico,J. P. Sieb,Ortrud K. Steinlein,Beate Schlotter,Benedikt Schoser,Janbernd Kirschner,Ralf Herrmann,Thomas Voit,Anders Oldfors,Christopher Lindbergh,Andoni Urtizberea,Maja von der Hagen,Angela Hübner,Jacqueline Palace,Kate Bushby,Volker Straub,David Beeson,Angela Abicht,Hanns Lochmüller +39 more
TL;DR: Downregulation of the GFPT1 ortholog gfpt1 in zebrafish embryos altered muscle fiber morphology and impaired neuromuscular junction development, providing further impetus to study the glycobiology of NMJ and synapses in general.