CHCHD10 mutations p.R15L and p.G66V cause motoneuron disease by haploinsufficiency-Reference-Cited by-同舟云学术

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

Published:2018-01-05 Issue:4 Volume:27 Page:706-715
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Brockmann Sarah J,Freischmidt Axel,Oeckl Patrick,Müller Kathrin,Ponna Srinivas K,Helferich Anika M,Paone Christoph,Reinders Jörg,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

Publisher

Oxford University Press (OUP)

Subject

Genetics (clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/27/4/706/23760121/ddx436.pdf

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3. A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement;Bannwarth;Brain,2014

4. Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease;Muller;Brain,2014

5. CHCHD10 mutations and motor neuron disease: the distribution in Finnish patients;Penttila;J. Neurol. Neurosur. Psychiatry,2017

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