CHCHD10 mutations p.R15L and p.G66V cause motoneuron disease by haploinsufficiency

Brockmann, Sarah J.; Freischmidt, Axel; Oeckl, Patrick; Mueller, Kathrin; Ponna, Srinivas K.; Helferich, Anika M.; Paone, Christoph; Reinders, Joerg; Kojer, Kerstin; Orth, Michael; Jokela, Manu; Auranen, Mari; Udd, Bjarne; Hermann, Andreas; Danzer, Karin M.; Lichtner, Peter; Walther, Paul; Ludolph, Albert C.; Andersen, Peter M.; Otto, Markus; Kursula, Petri; Just, Steffen; Weishaupt, Jochen H.

Erstveröffentlichung

2018

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Wissenschaftlicher Artikel

Authors

Brockmann, Sarah J.

Freischmidt, Axel

Oeckl, Patrick

Mueller, Kathrin

Ponna, Srinivas K.

et al.

Institutions

UKU. Klinik für Neurologie
UKU. Klinik für Innere Medizin II
ZE Elektronenmikroskopie

Published in

Human Molecular Genetics ; 27 (2018), 4. - S. 706-715. - ISSN 0964-6906. - eISSN 1460-2083

Link to publication

https://dx.doi.org/10.1093/hmg/ddx436

Funding information

German Federal Ministry of Education and Research (JPND "STRENGTH" consortium
German network for ALS research MND-NET) [BMBF 01ED1408]
German Society for patients with muscular diseases (DGM) [We 6/1]
International Graduate School in Molecular Medicine Ulm - Excellence Initiative of the German Federal and State Governments [GCS 270]

Dewey Decimal Group

DDC 610 / Medicine & health

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