J
J. Pilch
Researcher at University of Silesia in Katowice
Publications - 1
Citations - 77
J. Pilch is an academic researcher from University of Silesia in Katowice. The author has contributed to research in topics: Allele & Penetrance. The author has an hindex of 1, co-authored 1 publications receiving 66 citations.
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Dominant GDAP1 mutations cause predominantly mild CMT phenotypes
Magdalena Zimoń,Jonathan Baets,Gian Maria Fabrizi,E. Jaakkola,Dagmara Kabzińska,J. Pilch,Alice B. Schindler,David R. Cornblath,Kenneth H. Fischbeck,Michaela Auer-Grumbach,Christian Guelly,Nina Huber,E. De Vriendt,Vincent Timmerman,Ueli Suter,Irena Hausmanowa-Petrusewicz,Axel Niemann,Andrzej Kochański,P. De Jonghe,Albena Jordanova +19 more
TL;DR: It is shown that patients with dominant GDAP1 mutations may display clear axonal CMT, but may also have only minimal clinical and electrophysiologic abnormalities, and cell-based functional assays can be reliably used to test the pathogenicity of unknown variants.