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 · 538 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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 · 269 citations · Full text

Life Sciences, Molecular Biology, Molecular Genetics +3

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 · 239 citations

Life Sciences, Neurology, Neuroscience +4

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 · 189 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Phenotypes of the N88S Berardinelli–Seip congenital lipodystrophy 2 mutation

Michaela Auer‐Grumbach, Beate Schlotter‐Weigel, Hanns Lochmüller et al. · Annals of Neurology · 2005 · 113 citations

Medicine, Genetics, Neurology +17