Literature DB >> 25681414

A distinct clinical phenotype in a German kindred with motor neuron disease carrying a CHCHD10 mutation.

Delia Kurzwelly1, Stefanie Krüger2, Saskia Biskup2, Michael T Heneka3.   

Abstract

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Year:  2015        PMID： 25681414     DOI： 10.1093/brain/awv014

Source DB:  PubMed          Journal:  Brain        ISSN： 0006-8950            Impact factor:   13.501


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  20 in total

1.  Screening for CHCHD10 mutations in a large cohort of sporadic ALS patients: no evidence for pathogenicity of the p.P34S variant.

Authors:  Nicolai Marroquin; Sebastian Stranz; Kathrin Müller; Thomas Wieland; Wolfgang P Ruf; Sarah J Brockmann; Karin M Danzer; Guntram Borck; Annemarie Hübers; Patrick Weydt; Thomas Meitinger; Tim-Matthias Strom; Angela Rosenbohm; Albert C Ludolph; Jochen H Weishaupt
Journal:  Brain       Date:  2015-09-11       Impact factor: 13.501

2.  CHCHD10 Pro34Ser is not a highly penetrant pathogenic variant for amyotrophic lateral sclerosis and frontotemporal dementia.

Authors:  Samir Abdelkarim; Sarah Morgan; Vincent Plagnol; Ching-Hua Lu; Gary Adamson; Robin Howard; Andrea Malaspina; Richard Orrell; Nikhil Sharma; Katie Sidle; Jan Clarke; Nick C Fox; Martin N Rossor; Jason D Warren; Camilla N Clark; Jonathan D Rohrer; Elizabeth M C Fisher; Simon Mead; Alan Pittman; Pietro Fratta
Journal:  Brain       Date:  2015-09-11       Impact factor: 13.501

3.  Mutation Screening of the CHCHD10 Gene in Chinese Patients with Amyotrophic Lateral Sclerosis.

Authors:  QingQing Zhou; YongPing Chen; QianQian Wei; Bei Cao; Ying Wu; Bi Zhao; RuWei Ou; Jing Yang; XuePing Chen; Shinji Hadano; Hui-Fang Shang
Journal:  Mol Neurobiol       Date:  2016-04-07       Impact factor: 5.590

4.  The cellular stress proteins CHCHD10 and MNRR1 (CHCHD2): Partners in mitochondrial and nuclear function and dysfunction.

Authors:  Neeraja Purandare; Mallika Somayajulu; Maik Hüttemann; Lawrence I Grossman; Siddhesh Aras
Journal:  J Biol Chem       Date:  2018-03-14       Impact factor: 5.157

5.  Identification of CHCHD10 Mutation in Chinese Patients with Alzheimer Disease.

Authors:  Tingting Xiao; Bin Jiao; Weiwei Zhang; Chuzheng Pan; Jingya Wei; Xiaoyan Liu; Yafang Zhou; Lin Zhou; Beisha Tang; Lu Shen
Journal:  Mol Neurobiol       Date:  2016-08-30       Impact factor: 5.590

Review 6.  Novel genes associated with amyotrophic lateral sclerosis: diagnostic and clinical implications.

Authors:  Ruth Chia; Adriano Chiò; Bryan J Traynor
Journal:  Lancet Neurol       Date:  2017-11-16       Impact factor: 44.182

Review 7.  Mitochondrial inner membrane protein, Mic60/mitofilin in mammalian organ protection.

Authors:  Yansheng Feng; Ngonidzashe B Madungwe; Jean C Bopassa
Journal:  J Cell Physiol       Date:  2018-09-14       Impact factor: 6.384

Review 8.  ALS: Recent Developments from Genetics Studies.

Authors:  Martine Therrien; Patrick A Dion; Guy A Rouleau
Journal:  Curr Neurol Neurosci Rep       Date:  2016-06       Impact factor: 5.081

9.  Reply: High prevalence of CHCHD10 mutations in patients with frontotemporal dementia from China.

Authors:  Sylvie Bannwarth; Samira Ait-El-Mkadem; Annabelle Chaussenot; Emmanuelle C Genin; Sandra Lacas-Gervais; Konstantina Fragaki; Laetitia Berg-Alonso; Yusuke Kageyama; Valérie Serre; David Moore; Annie Verschueren; Cécile Rouzier; Isabelle Le Ber; Gaëlle Augé; Charlotte Cochaud; Françoise Lespinasse; Karine N'Guyen; Anne de Septenville; Alexis Brice; Patrick Yu-Wai-Man; Hiromi Sesaki; Jean Pouget; Véronique Paquis-Flucklinger
Journal:  Brain       Date:  2015-12-30       Impact factor: 13.501

10.  CHCHD10 variants in amyotrophic lateral sclerosis: Where is the evidence?

Authors: 
Journal:  Ann Neurol       Date:  2018-07       Impact factor: 10.422
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