Literature DB >> 26719380

Reply: High prevalence of CHCHD10 mutations in patients with frontotemporal dementia from China.

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:  2015        PMID: 26719380      PMCID: PMC5006225          DOI: 10.1093/brain/awv368

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


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  21 in total

1.  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

2.  Intrafamilial clinical variability in individuals carrying the CHCHD10 mutation Gly66Val.

Authors:  P Pasanen; L Myllykangas; M Pöyhönen; S Kiuru-Enari; P J Tienari; H Laaksovirta; J Toppila; E Ylikallio; H Tyynismaa; M Auranen
Journal:  Acta Neurol Scand       Date:  2015-07-30       Impact factor: 3.209

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.  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

5.  C9ORF72 repeat expansions in cases with previously identified pathogenic mutations.

Authors:  Marka van Blitterswijk; Matthew C Baker; Mariely DeJesus-Hernandez; Roberta Ghidoni; Luisa Benussi; Elizabeth Finger; Ging-Yuek R Hsiung; Brendan J Kelley; Melissa E Murray; Nicola J Rutherford; Patricia E Brown; Thomas Ravenscroft; Bianca Mullen; Peter E A Ash; Kevin F Bieniek; Kimmo J Hatanpaa; Anna Karydas; Elisabeth McCarty Wood; Giovanni Coppola; Eileen H Bigio; Carol Lippa; Michael J Strong; Thomas G Beach; David S Knopman; Edward D Huey; Marsel Mesulam; Thomas Bird; Charles L White; Andrew Kertesz; Dan H Geschwind; Vivianna M Van Deerlin; Ronald C Petersen; Giuliano Binetti; Bruce L Miller; Leonard Petrucelli; Zbigniew K Wszolek; Kevin B Boylan; Neill R Graff-Radford; Ian R Mackenzie; Bradley F Boeve; Dennis W Dickson; Rosa Rademakers
Journal:  Neurology       Date:  2013-09-11       Impact factor: 9.910

6.  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

7.  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

8.  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

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.  Mixed tau, TDP-43 and p62 pathology in FTLD associated with a C9ORF72 repeat expansion and p.Ala239Thr MAPT (tau) variant.

Authors:  Andrew King; Safa Al-Sarraj; Claire Troakes; Bradley N Smith; Satomi Maekawa; Mariangela Iovino; Maria Grazia Spillantini; Christopher E Shaw
Journal:  Acta Neuropathol       Date:  2012-09-28       Impact factor: 17.088

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