Výsledky vyhledávání - "Manja Weinhold"

Novel Mutations in MYBPC1 Are Associated With Myogenic Tremor and Mild Myopathy

Autor: Carsten G. Bönnemann, Janis Stavusis, Baiba Lace, Nathan T. Wright, Jochen Schäfer, Dietrich Haubenberger, Aikaterini Kontrogianni-Konstantopoulos, Annika Saak, Janelle Geist, Manja Weinhold, Dita Kidere, Sandra Jackson, Inna Inashkina, Sander Pajusalu

Publikováno v: Ann Neurol

Objective To define a distinct, dominantly inherited, mild skeletal myopathy associated with prominent and consistent tremor in two unrelated, three-generation families. Methods Clinical evaluations as well as exome and panel sequencing analyses were

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19bea6476631230c2ca616af6eb0d1da
https://europepmc.org/articles/PMC6685440/

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Autosomal dominant mutations in POLG and C10orf2: association with late onset chronic progressive external ophthalmoplegia and Parkinsonism in two patients

Autor: Barton R. Brandon, Manja Weinhold, Madhu Soni, Micaela Krause, Sandra Jackson, Nico J. Diederich, Katrin Witte

Publikováno v: Journal of Neurology. 260:1931-1933

Mutations in nuclear genes which encode proteins involved in mitochondrial DNA (mtDNA) replication or maintenance can cause mtDNA depletion or multiple mtDNA deletions in post-mitotic tissue, causing a range of mitochondrial diseases. Mutations in tw

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cab05270d136e6dedf428527eaf85e97
https://doi.org/10.1007/s00415-013-6975-2