Literature DB >> 25953780

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

Carol Dobson-Stone1, Alex D Shaw2, Marianne Hallupp3, Lauren Bartley3, Heather McCann3, William S Brooks4, Clement T Loy5, Peter R Schofield4, Karen A Mather6, Nicole A Kochan6, Perminder S Sachdev7, Glenda M Halliday4, Olivier Piguet4, John R Hodges4, John B J Kwok4.   

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Year:  2015        PMID: 25953780     DOI: 10.1093/brain/awv115

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


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  7 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

Review 4.  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

5.  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

6.  Examining the presence and nature of delusions in Alzheimer's disease and frontotemporal dementia syndromes.

Authors:  Fiona Kumfor; Cheng Tao Liang; Jessica L Hazelton; Cristian E Leyton; Cassandra Kaizik; Emma Devenney; Emily Connaughton; Robyn Langdon; Eneida Mioshi; John B Kwok; Carol Dobson-Stone; Glenda M Halliday; Olivier Piguet; John R Hodges; Ramon Landin-Romero
Journal:  Int J Geriatr Psychiatry       Date:  2022-02-08       Impact factor: 3.850

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

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

  7 in total

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