Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Manja Weinhold"'
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/
https://europepmc.org/articles/PMC6685440/
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