Literature DB >> 27095681

Genetic analysis of CHCHD10 in French familial amyotrophic lateral sclerosis patients.

Elisa Teyssou1, Laura Chartier1, Mélanie Albert1, Alexandra Bouscary1, Jean-Christophe Antoine2, Jean-Philippe Camdessanché2, Francesco Rotolo2, Philippe Couratier3, François Salachas4, Danielle Seilhean5, Stéphanie Millecamps6.   

Abstract

Mutations in CHCHD10 have been reported as the cause of a large panel of neurologic disorders. To confirm the contribution of this gene to amyotrophic lateral sclerosis (ALS) disease, we analyzed the 4 coding exons of CHCHD10 by Sanger sequencing in a cohort of 118 French familial ALS already excluded for all known ALS-related genes. We did not find any pathogenic mutation suggesting that CHCHD10 is not a major genetic cause of familial ALS, in France.
Copyright © 2016 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  Amyotrophic lateral sclerosis; Familial ALS; Frontotemporal dementia; Genetic analysis; Motor neuron disease

Mesh:

Substances:

Year:  2016        PMID: 27095681     DOI: 10.1016/j.neurobiolaging.2016.03.022

Source DB:  PubMed          Journal:  Neurobiol Aging        ISSN: 0197-4580            Impact factor:   4.673


  4 in total

Review 1.  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

Review 2.  Alternative Splicing of ALS Genes: Misregulation and Potential Therapies.

Authors:  Benedetta Perrone; Valentina La Cognata; Teresa Sprovieri; Carmine Ungaro; Francesca Luisa Conforti; Sebastiano Andò; Sebastiano Cavallaro
Journal:  Cell Mol Neurobiol       Date:  2019-08-05       Impact factor: 5.046

Review 3.  MNRR1, a Biorganellar Regulator of Mitochondria.

Authors:  Lawrence I Grossman; Neeraja Purandare; Rooshan Arshad; Stephanie Gladyck; Mallika Somayajulu; Maik Hüttemann; Siddhesh Aras
Journal:  Oxid Med Cell Longev       Date:  2017-06-08       Impact factor: 6.543

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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