Sophie Nicole

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

Erin L. Heinzen, Kathryn J. Swoboda, Yuki Hitomi et al. · Nature Genetics · 2012 · 417 citations · Full text

Rare Diseases, Mendelian Disorder, Genetic Disorder +8

Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia)

Sophie Nicole, Claire-Sophie Davoine, Haluk Topaloğlu et al. · Nature Genetics · 2000 · 296 citations

Schwartz-jampel Syndrome, Surgical Pathology, Histopathology +9

Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current

Karin Jurkat‐Rott, Nenad Mitrović, Chao Hang et al. · Proceedings of the National Academy of Sciences · 2000 · 265 citations

Null Leukemia Inhibitory Factor Receptor (LIFR) Mutations in Stüve-Wiedemann/Schwartz-Jampel Type 2 Syndrome

Nathalie Dagoneau, Déborah Scheffer, Céline Huber et al. · The American Journal of Human Genetics · 2004 · 183 citations · Full text

Genetic Disorder, Genetics, Pathology +4

Mutation in the Human Acetylcholinesterase-Associated Collagen Gene, COLQ, Is Responsible for Congenital Myasthenic Syndrome with End-Plate Acetylcholinesterase Deficiency (Type Ic)

Claire Donger, Éric Krejci, Adolf Pou Serradell et al. · The American Journal of Human Genetics · 1998 · 160 citations · Full text

Mendelian Disorder, Connective Tissue Disease, Genetic Disorder +9