Literature DB >> 25576308

CHCHD10 mutations in Italian patients with sporadic amyotrophic lateral sclerosis.

Dario Ronchi1, Giulietta Riboldi1, Roberto Del Bo1, Nicola Ticozzi2, Marina Scarlato3, Daniela Galimberti4, Stefania Corti1, Vincenzo Silani2, Nereo Bresolin1, Giacomo Pietro Comi5.   

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Year:  2015        PMID： 25576308     DOI： 10.1093/brain/awu384

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


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  29 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

Review 3.  Mitochondrial CHCHD-Containing Proteins: Physiologic Functions and Link with Neurodegenerative Diseases.

Authors:  Zhi-Dong Zhou; Wuan-Ting Saw; Eng-King Tan
Journal:  Mol Neurobiol       Date:  2016-09-08       Impact factor: 5.590

4.  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

5.  TDP-43 and PINK1 mediate CHCHD10S59L mutation-induced defects in Drosophila and in vitro.

Authors:  Minwoo Baek; Yun-Jeong Choe; Sylvie Bannwarth; JiHye Kim; Swati Maitra; Gerald W Dorn; J Paul Taylor; Veronique Paquis-Flucklinger; Nam Chul Kim
Journal:  Nat Commun       Date:  2021-03-26       Impact factor: 14.919

Review 6.  Genetics of Amyotrophic Lateral Sclerosis.

Authors:  Mehdi Ghasemi; Robert H Brown
Journal:  Cold Spring Harb Perspect Med       Date:  2018-05-01       Impact factor: 6.915

7.  Erratum to: Mitochondrial CHCHD-Containing Proteins: Physiologic Functions and Link with Neurodegenerative Diseases.

Authors:  Zhi-Dong Zhou; Wuan-Ting Saw; Eng-King Tan
Journal:  Mol Neurobiol       Date:  2017-09       Impact factor: 5.590

8.  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

9.  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

10.  In vitro and in vivo studies of the ALS-FTLD protein CHCHD10 reveal novel mitochondrial topology and protein interactions.

Authors:  S R Burstein; F Valsecchi; H Kawamata; M Bourens; R Zeng; A Zuberi; T A Milner; S M Cloonan; C Lutz; A Barrientos; G Manfredi
Journal:  Hum Mol Genet       Date:  2018-01-01       Impact factor: 6.150
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