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Titel:

The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME.

Dokumenttyp:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Article
Autor(en):
Senderek, Jan; Lassuthova, Petra; Kabzińska, Dagmara; Abreu, Lisa; Baets, Jonathan; Beetz, Christian; Braathen, Geir J; Brenner, David; Dalton, Joline; Dankwa, Lois; Deconinck, Tine; De Jonghe, Peter; Dräger, Bianca; Eggermann, Katja; Ellis, Melina; Fischer, Carina; Stojkovic, Tanya; Herrmann, David N; Horvath, Rita; Høyer, Helle; Iglseder, Stephan; Kennerson, Marina; Kinslechner, Katharina; Kohler, Jennefer N; Kurth, Ingo; Laing, Nigel G; Lamont, Phillipa J; Wolfgang N, Löscher; Ludolph, Albert...     »
Abstract:
OBJECTIVE: To test the hypothesis that monogenic neuropathies such as Charcot-Marie-Tooth disease (CMT) contribute to frequent but often unexplained neuropathies in the elderly, we performed genetic analysis of 230 patients with unexplained axonal neuropathies and disease onset ≥35 years. METHODS: We recruited patients, collected clinical data, and conducted whole-exome sequencing (WES; n = 126) and MME single-gene sequencing (n = 104). We further queried WES repositories for MME variants and m...     »
Zeitschriftentitel:
Neurology
Jahr:
2020
Band / Volume:
95
Heft / Issue:
24
Seitenangaben Beitrag:
e3163-e3179
Volltext / DOI:
doi:10.1212/WNL.0000000000011132
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/33144514
Print-ISSN:
0028-3878
TUM Einrichtung:
303; 617; Institut für Humangenetik
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