Gudrun Schreiber

Desmin‐related myopathy with mallory body–like inclusions is caused by mutations of the selenoprotein N gene

Ana Ferreiro, Chantal Ceuterick‐de Groote, Jared J. Marks et al. · Annals of Neurology · 2004 · 194 citations

Medicine, Genetics, Molecular Genetics +14

Mutations in FKBP14 Cause a Variant of Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss

Matthias Baumann, Cecilia Giunta, Birgit Krabichler et al. · The American Journal of Human Genetics · 2012 · 159 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice

Yaqun Zou, Daniela Zwolanek, Yayoi Izu et al. · Human Molecular Genetics · 2013 · 139 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Ullrich congenital muscular dystrophy: Connective tissue abnormalities in the skin support overlap with Ehlers–Danlos syndromes

Janbernd Kirschner, Yaqun Zou, Gudrun Schreiber et al. · American Journal of Medical Genetics Part A · 2004 · 101 citations

Medicine, Genetics, Pathology +17

Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance

Anne Katrin Lampe, Yaqun Zou, D. Sudano et al. · Human Mutation · 2008 · 91 citations

Medicine, Genetics, Molecular Genetics +16