Literature DB >> 25113788

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

Sylvie Bannwarth1, Samira Ait-El-Mkadem1, Annabelle Chaussenot1, Emmanuelle C Genin2, Sandra Lacas-Gervais3, Konstantina Fragaki1, Laetitia Berg-Alonso2, Yusuke Kageyama4, Valérie Serre5, David Moore6, Annie Verschueren7, Cécile Rouzier1, Isabelle Le Ber8, Gaëlle Augé1, Charlotte Cochaud9, Françoise Lespinasse2, Karine N'Guyen10, Anne de Septenville11, Alexis Brice11, Patrick Yu-Wai-Man12, Hiromi Sesaki4, Jean Pouget7, Véronique Paquis-Flucklinger13.   

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Year:  2014        PMID: 25113788      PMCID: PMC4240282          DOI: 10.1093/brain/awu228

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


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  8 in total

Review 1.  Mitochondria and ALS: implications from novel genes and pathways.

Authors:  Mauro Cozzolino; Alberto Ferri; Cristiana Valle; Maria Teresa Carrì
Journal:  Mol Cell Neurosci       Date:  2012-06-15       Impact factor: 4.314

2.  SOD1 targeted to the mitochondrial intermembrane space prevents motor neuropathy in the Sod1 knockout mouse.

Authors:  Lindsey R Fischer; Anissa Igoudjil; Jordi Magrané; Yingjie Li; Jason M Hansen; Giovanni Manfredi; Jonathan D Glass
Journal:  Brain       Date:  2010-11-14       Impact factor: 13.501

3.  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

4.  Structural characterization of CHCHD5 and CHCHD7: two atypical human twin CX9C proteins.

Authors:  Lucia Banci; Ivano Bertini; Simone Ciofi-Baffoni; Deepa Jaiswal; Sara Neri; Riccardo Peruzzini; Julia Winkelmann
Journal:  J Struct Biol       Date:  2012-07-25       Impact factor: 2.867

5.  Ultrastructure of atrophic muscle in amyotrophic lateral sclerosis.

Authors:  A K Afifi; F P Aleu; J Goodgold; B MacKay
Journal:  Neurology       Date:  1966-05       Impact factor: 9.910

Review 6.  Converging mechanisms in ALS and FTD: disrupted RNA and protein homeostasis.

Authors:  Shuo-Chien Ling; Magdalini Polymenidou; Don W Cleveland
Journal:  Neuron       Date:  2013-08-07       Impact factor: 17.173

7.  Familial amyotrophic lateral sclerosis-linked SOD1 mutants perturb fast axonal transport to reduce axonal mitochondria content.

Authors:  Kurt J De Vos; Anna L Chapman; Maria E Tennant; Catherine Manser; Christopher C J Miller; Andrew J Grierson; Elizabeth L Tudor; Kwok-Fai Lau; Janet Brownlees; Steven Ackerley; Pamela J Shaw; Declan M McLoughlin; Christopher E Shaw; P Nigel Leigh
Journal:  Hum Mol Genet       Date:  2007-08-28       Impact factor: 6.150

8.  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

  8 in total
  2 in total

Review 1.  Genetics of Amyotrophic Lateral Sclerosis.

Authors:  Mehdi Ghasemi; Robert H Brown
Journal:  Cold Spring Harb Perspect Med       Date:  2018-05-01       Impact factor: 6.915

Review 2.  Amyotrophic Lateral Sclerosis and Frontotemporal Lobar Degenerations: Similarities in Genetic Background.

Authors:  Eva Parobkova; Radoslav Matej
Journal:  Diagnostics (Basel)       Date:  2021-03-13
  2 in total

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