Ralf Herrmann

Muscular Dystrophy and Neuronal Migration Disorder Caused by Mutations in a Glycosyltransferase, POMGnT1

Aruto Yoshida, Kazuhiro Kobayashi, Hiroshi Manya et al. · Developmental Cell · 2001 · 707 citations · Full text

Mendelian Disorder, Neuronal Migration Disorder, Genetic Disorder +8

Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy

Jan Senderek, Michael J. B. Krieger, Claudia Stendel et al. · Nature Genetics · 2005 · 248 citations

Mendelian Disorder, Ophthalmology, Genetic Disorder +5

Phenotypic spectrum associated with mutations in the fukutin‐related protein gene

Eugenio Mercuri, Martin Brockington, Volker Straub et al. · Annals of Neurology · 2003 · 237 citations

Mutations in the Slow Skeletal Muscle Fiber Myosin Heavy Chain Gene (MYH7) Cause Laing Early-Onset Distal Myopathy (MPD1)

Christopher S. Meredith, Ralf Herrmann, Cheryl Parry et al. · The American Journal of Human Genetics · 2004 · 227 citations · Full text

Mitochondrial Myopathy, Muscle Function, Skeletal Muscle +8

Hexosamine Biosynthetic Pathway Mutations Cause Neuromuscular Transmission Defect

Jan Senderek, Juliane Müller, Marina Dusl et al. · The American Journal of Human Genetics · 2011 · 171 citations · Full text

Neuromuscular Junction, Molecular Neuroscience, Medicine +6