Claudia Stendel

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

Mutations in a Gene Encoding a Novel SH3/TPR Domain Protein Cause Autosomal Recessive Charcot-Marie-Tooth Type 4C Neuropathy

Jan Senderek, Carsten Bergmann, Claudia Stendel et al. · The American Journal of Human Genetics · 2003 · 210 citations · Full text

Neurodegenerative Diseases, Molecular Neuroscience, Mendelian Disorder +9

Autosomal-Dominant Distal Myopathy Associated with a Recurrent Missense Mutation in the Gene Encoding the Nuclear Matrix Protein, Matrin 3

Jan Senderek, Sean M. Garvey, Michael J. B. Krieger et al. · The American Journal of Human Genetics · 2009 · 175 citations · Full text

Rare Diseases, Recurrent Missense Mutation, Mendelian Disorder +9

Transcriptional regulator PRDM12 is essential for human pain perception

Ya-Chun Chen, Michaela Auer‐Grumbach, Shinya Matsukawa et al. · Nature Genetics · 2015 · 170 citations · Full text

Pain Syndrome, Signal Transduction, Health Sciences +8

Progression characteristics of the European Friedreich’s Ataxia Consortium for Translational Studies (EFACTS): a 2 year cohort study

Kathrin Reetz, Imis Dogan, R.-D Hilgers et al. · The Lancet Neurology · 2016 · 150 citations

Neurodegenerative Diseases, Neurobiology Of Disease, Progression Characteristics +11