Literature DB >> 25261972

Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis.

Janel O Johnson1, Shannon M Glynn1, J Raphael Gibbs2, Mike A Nalls3, Mario Sabatelli4, Gabriella Restagno5, Vivian E Drory6, Adriano Chiò7, Ekaterina Rogaeva8, Bryan J Traynor9.   

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Year:  2014        PMID： 25261972      PMCID： PMC4240285          DOI： 10.1093/brain/awu265

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


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  5 in total

1.  El Escorial World Federation of Neurology criteria for the diagnosis of amyotrophic lateral sclerosis. Subcommittee on Motor Neuron Diseases/Amyotrophic Lateral Sclerosis of the World Federation of Neurology Research Group on Neuromuscular Diseases and the El Escorial "Clinical limits of amyotrophic lateral sclerosis" workshop contributors.

Authors:  B R Brooks
Journal:  J Neurol Sci       Date:  1994-07       Impact factor: 3.181

2.  Exome sequencing reveals VCP mutations as a cause of familial ALS.

Authors:  Janel O Johnson; Jessica Mandrioli; Michael Benatar; Yevgeniya Abramzon; Vivianna M Van Deerlin; John Q Trojanowski; J Raphael Gibbs; Maura Brunetti; Susan Gronka; Joanne Wuu; Jinhui Ding; Leo McCluskey; Maria Martinez-Lage; Dana Falcone; Dena G Hernandez; Sampath Arepalli; Sean Chong; Jennifer C Schymick; Jeffrey Rothstein; Francesco Landi; Yong-Dong Wang; Andrea Calvo; Gabriele Mora; Mario Sabatelli; Maria Rosaria Monsurrò; Stefania Battistini; Fabrizio Salvi; Rossella Spataro; Patrizia Sola; Giuseppe Borghero; Giuliana Galassi; Sonja W Scholz; J Paul Taylor; Gabriella Restagno; Adriano Chiò; Bryan J Traynor
Journal:  Neuron       Date:  2010-12-09       Impact factor: 17.173

Review 3.  State of play in amyotrophic lateral sclerosis genetics.

Authors:  Alan E Renton; Adriano Chiò; Bryan J Traynor
Journal:  Nat Neurosci       Date:  2013-12-26       Impact factor: 24.884

4.  Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis.

Authors:  Janel O Johnson; Erik P Pioro; Ashley Boehringer; Ruth Chia; Gabriella Restagno; Mario Sabatelli; Robert Bowser; Adriano Chiò; Bryan J Traynor; Howard Feit; Alan E Renton; Hannah A Pliner; Yevgeniya Abramzon; Giuseppe Marangi; Brett J Winborn; J Raphael Gibbs; Michael A Nalls; Sarah Morgan; Maryam Shoai; John Hardy; Alan Pittman; Richard W Orrell; Andrea Malaspina; Katie C Sidle; Pietro Fratta; Matthew B Harms; Robert H Baloh; Alan Pestronk; Conrad C Weihl; Ekaterina Rogaeva; Lorne Zinman; Vivian E Drory; Giuseppe Borghero; Gabriele Mora; Andrea Calvo; Jeffrey D Rothstein; Carsten Drepper; Michael Sendtner; Andrew B Singleton; J Paul Taylor; Mark R Cookson
Journal:  Nat Neurosci       Date:  2014-03-30       Impact factor: 24.884

5.  A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement.

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 G 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:  2014-06-16       Impact factor: 13.501
  5 in total
  58 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.  Mitochondria and endoplasmic reticulum crosstalk in amyotrophic lateral sclerosis.

Authors:  Giovanni Manfredi; Hibiki Kawamata
Journal:  Neurobiol Dis       Date:  2015-08-15       Impact factor: 5.996

Review 4.  Familial Amyotrophic Lateral Sclerosis.

Authors:  Kevin Boylan
Journal:  Neurol Clin       Date:  2015-09-08       Impact factor: 3.806

5.  CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients.

Authors:  Adriano Chiò; Gabriele Mora; Mario Sabatelli; Claudia Caponnetto; Bryan J Traynor; Janel O Johnson; Mike A Nalls; Andrea Calvo; Cristina Moglia; Giuseppe Borghero; Maria Rosaria Monsurrò; Vincenzo La Bella; Paolo Volanti; Isabella Simone; Fabrizio Salvi; Francesco O Logullo; Riva Nilo; Stefania Battistini; Jessica Mandrioli; Raffaella Tanel; Maria Rita Murru; Paola Mandich; Marcella Zollino; Francesca L Conforti; Maura Brunetti; Marco Barberis; Gabriella Restagno; Silvana Penco; Christian Lunetta
Journal:  Neurobiol Aging       Date:  2015-01-28       Impact factor: 4.673

Review 6.  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

7.  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

8.  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

9.  CHCHD10-regulated OPA1-mitofilin complex mediates TDP-43-induced mitochondrial phenotypes associated with frontotemporal dementia.

Authors:  Tian Liu; Jung-A A Woo; Mohammed Zaheen Bukhari; Patrick LePochat; Ann Chacko; Maj-Linda B Selenica; Yan Yan; Peter Kotsiviras; Sara Cazzaro Buosi; Xingyu Zhao; David E Kang
Journal:  FASEB J       Date:  2020-05-05       Impact factor: 5.191

10.  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
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