Literature DB >> 26362910

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

Samir Abdelkarim1, Sarah Morgan2, Vincent Plagnol3, Ching-Hua Lu4, Gary Adamson5, Robin Howard6, Andrea Malaspina7, Richard Orrell2, Nikhil Sharma8, Katie Sidle2, Jan Clarke6, Nick C Fox9, Martin N Rossor9, Jason D Warren9, Camilla N Clark9, Jonathan D Rohrer9, Elizabeth M C Fisher1, Simon Mead5, Alan Pittman2, Pietro Fratta10.   

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Year:  2015        PMID: 26362910      PMCID: PMC5963427          DOI: 10.1093/brain/awv223

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


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  19 in total

1.  Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS.

Authors:  Mariely DeJesus-Hernandez; Ian R Mackenzie; Bradley F Boeve; Adam L Boxer; Matt Baker; Nicola J Rutherford; Alexandra M Nicholson; NiCole A Finch; Heather Flynn; Jennifer Adamson; Naomi Kouri; Aleksandra Wojtas; Pheth Sengdy; Ging-Yuek R Hsiung; Anna Karydas; William W Seeley; Keith A Josephs; Giovanni Coppola; Daniel H Geschwind; Zbigniew K Wszolek; Howard Feldman; David S Knopman; Ronald C Petersen; Bruce L Miller; Dennis W Dickson; Kevin B Boylan; Neill R Graff-Radford; Rosa Rademakers
Journal:  Neuron       Date:  2011-09-21       Impact factor: 17.173

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.  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

6.  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

7.  Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases.

Authors:  Giovanni Coppola; Subashchandrabose Chinnathambi; Jason JiYong Lee; Beth A Dombroski; Matt C Baker; Alexandra I Soto-Ortolaza; Suzee E Lee; Eric Klein; Alden Y Huang; Renee Sears; Jessica R Lane; Anna M Karydas; Robert O Kenet; Jacek Biernat; Li-San Wang; Carl W Cotman; Charles S Decarli; Allan I Levey; John M Ringman; Mario F Mendez; Helena C Chui; Isabelle Le Ber; Alexis Brice; Michelle K Lupton; Elisavet Preza; Simon Lovestone; John Powell; Neill Graff-Radford; Ronald C Petersen; Bradley F Boeve; Carol F Lippa; Eileen H Bigio; Ian Mackenzie; Elizabeth Finger; Andrew Kertesz; Richard J Caselli; Marla Gearing; Jorge L Juncos; Bernardino Ghetti; Salvatore Spina; Yvette M Bordelon; Wallace W Tourtellotte; Matthew P Frosch; Jean Paul G Vonsattel; Chris Zarow; Thomas G Beach; Roger L Albin; Andrew P Lieberman; Virginia M Lee; John Q Trojanowski; Vivianna M Van Deerlin; Thomas D Bird; Douglas R Galasko; Eliezer Masliah; Charles L White; Juan C Troncoso; Didier Hannequin; Adam L Boxer; Michael D Geschwind; Satish Kumar; Eva-Maria Mandelkow; Zbigniew K Wszolek; Ryan J Uitti; Dennis W Dickson; Jonathan L Haines; Richard Mayeux; Margaret A Pericak-Vance; Lindsay A Farrer; Owen A Ross; Rosa Rademakers; Gerard D Schellenberg; Bruce L Miller; Eckhard Mandelkow; Daniel H Geschwind
Journal:  Hum Mol Genet       Date:  2012-05-03       Impact factor: 6.150

8.  Structural basis for mutation-induced destabilization of profilin 1 in ALS.

Authors:  Sivakumar Boopathy; Tania V Silvas; Maeve Tischbein; Silvia Jansen; Shivender M Shandilya; Jill A Zitzewitz; John E Landers; Bruce L Goode; Celia A Schiffer; Daryl A Bosco
Journal:  Proc Natl Acad Sci U S A       Date:  2015-06-08       Impact factor: 11.205

9.  Mutation in the novel nuclear-encoded mitochondrial protein CHCHD10 in a family with autosomal dominant mitochondrial myopathy.

Authors:  Senda Ajroud-Driss; Faisal Fecto; Kaouther Ajroud; Irfan Lalani; Sarah E Calvo; Vamsi K Mootha; Han-Xiang Deng; Nailah Siddique; Albert J Tahmoush; Terry D Heiman-Patterson; Teepu Siddique
Journal:  Neurogenetics       Date:  2014-09-06       Impact factor: 2.660

10.  Profilin1 E117G is a moderate risk factor for amyotrophic lateral sclerosis.

Authors:  Pietro Fratta; James Charnock; Toby Collins; Anny Devoy; Robin Howard; Andrea Malaspina; Richard Orrell; Katie Sidle; Jan Clarke; Maryam Shoai; Ching-Hua Lu; John Hardy; Vincent Plagnol; Elizabeth M C Fisher
Journal:  J Neurol Neurosurg Psychiatry       Date:  2013-12-05       Impact factor: 10.154

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  4 in total

1.  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 2.  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

3.  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

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

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

  4 in total

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