Beate Schlotter‐Weigel

Nesprin-1 and -2 are involved in the pathogenesis of Emery–Dreifuss muscular dystrophy and are critical for nuclear envelope integrity

Qiuping Zhang, Cornelia Bethmann, Nathalie F. Worth et al. · Human Molecular Genetics · 2007 · 535 citations · Full text

Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C

Michaela Auer‐Grumbach, Andrea Olschewski, Lea Papić et al. · Nature Genetics · 2009 · 267 citations · Full text

Ankyrin Domain, Scapuloperoneal Sma, Molecular Biology +4

Late onset Pompe disease: Clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients

Wolfgang Müller‐Felber, Rita Horváth, Klaus Gempel et al. · Neuromuscular Disorders · 2007 · 236 citations

Neurology, Neurophysiological Spectrum, Medicine +2

Mutations in the SPTLC2 Subunit of Serine Palmitoyltransferase Cause Hereditary Sensory and Autonomic Neuropathy Type I

Annelies Rotthier, Michaela Auer‐Grumbach, Katrien Janssens et al. · The American Journal of Human Genetics · 2010 · 186 citations · Full text

Molecular Neuroscience, Molecular Physiology, Autonomic Neuropathy Type +10

Phenotypes of the N88S Berardinelli–Seip congenital lipodystrophy 2 mutation

Michaela Auer‐Grumbach, Beate Schlotter‐Weigel, Hanns Lochmüller et al. · Annals of Neurology · 2005 · 112 citations