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Literature DB >> 26362909

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

Nicolai Marroquin¹, Sebastian Stranz¹, Kathrin Müller¹, Thomas Wieland², Wolfgang P Ruf¹, Sarah J Brockmann¹, Karin M Danzer¹, Guntram Borck³, Annemarie Hübers¹, Patrick Weydt¹, Thomas Meitinger², Tim-Matthias Strom², Angela Rosenbohm¹, Albert C Ludolph¹, Jochen H Weishaupt⁴.

Abstract

Entities: Disease Gene Mutation Species

Mesh：

Substances：

Year: 2015 PMID： 26362909 PMCID： PMC5963426 DOI： 10.1093/brain/awv218

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

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9 in total

1. Is CHCHD10 Pro34Ser pathogenic for frontotemporal dementia and amyotrophic lateral sclerosis?

Authors: Carol Dobson-Stone; Alex D Shaw; Marianne Hallupp; Lauren Bartley; Heather McCann; William S Brooks; Clement T Loy; Peter R Schofield; Karen A Mather; Nicole A Kochan; Perminder S Sachdev; Glenda M Halliday; Olivier Piguet; John R Hodges; John B J Kwok
Journal: Brain Date: 2015-05-07 Impact factor: 13.501

2. Screening of CHCHD10 in a French cohort confirms the involvement of this gene in frontotemporal dementia with amyotrophic lateral sclerosis patients.

Authors: Annabelle Chaussenot; Isabelle Le Ber; Samira Ait-El-Mkadem; Agnès Camuzat; Anne de Septenville; Sylvie Bannwarth; Emmanuelle C Genin; Valérie Serre; Gaëlle Augé; Alexis Brice; Jean Pouget; Véronique Paquis-Flucklinger
Journal: Neurobiol Aging Date: 2014-07-24 Impact factor: 4.673

3. 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

4. CHCHD10 mutations in Italian patients with sporadic amyotrophic lateral sclerosis.

Authors: Dario Ronchi; Giulietta Riboldi; Roberto Del Bo; Nicola Ticozzi; Marina Scarlato; Daniela Galimberti; Stefania Corti; Vincenzo Silani; Nereo Bresolin; Giacomo Pietro Comi
Journal: Brain Date: 2015-01-08 Impact factor: 13.501

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

Authors: Delia Kurzwelly; Stefanie Krüger; Saskia Biskup; Michael T Heneka
Journal: Brain Date: 2015-02-12 Impact factor: 13.501

6. Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease.

Authors: Kathrin Müller; Peter M Andersen; Annemarie Hübers; Nicolai Marroquin; Alexander E Volk; Karin M Danzer; Thomas Meitinger; Albert C Ludolph; Tim M Strom; Jochen H Weishaupt
Journal: Brain Date: 2014-08-11 Impact factor: 13.501

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

Authors: Janel O Johnson; Shannon M Glynn; J Raphael Gibbs; Mike A Nalls; Mario Sabatelli; Gabriella Restagno; Vivian E Drory; Adriano Chiò; Ekaterina Rogaeva; Bryan J Traynor
Journal: Brain Date: 2014-09-26 Impact factor: 13.501

8. Late onset spinal motor neuronopathy is caused by mutation in CHCHD10.

Authors: Sini Penttilä; Manu Jokela; Heidi Bouquin; Anna Maija Saukkonen; Jari Toivanen; Bjarne Udd
Journal: Ann Neurol Date: 2014-12-12 Impact factor: 10.422

9. 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

9 in total

11 in total

1. 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

2. TDP-43 and PINK1 mediate CHCHD10^S59L 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 3. Neuroimaging in genetic frontotemporal dementia and amyotrophic lateral sclerosis.

Authors: Suvi Häkkinen; Stephanie A Chu; Suzee E Lee
Journal: Neurobiol Dis Date: 2020-09-02 Impact factor: 5.996

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. 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

7. 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