Reply: Are CHCHD10 mutations indeed associated with familial amyotrophic lateral sclerosis?
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LETTER TO THE EDITOR Reply: Are CHCHD10 mutations indeed associated with familial amyotrophic lateral sclerosis?
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 ...
متن کاملReply: Are CHCHD10 mutations indeed associated with familial amyotrophic lateral sclerosis?
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 ...
متن کاملLETTER TO THE EDITOR Are CHCHD10 mutations indeed associated with familial amyotrophic lateral sclerosis?
Sir, A recent study by Bannwarth et al. (2014) in Brain identified a novel mutation (c.176C4 T; p.Ser59Leu) in the CHCHD10 gene that segregates in a family presenting with ataxia, myopathy, hearing loss as well as motor neuron disease and frontotemporal dementia (FTD). Furthermore they identified a second family with ALS/FTD harbouring the identical mutation making this a gene of interest in th...
متن کاملMutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis.
1 Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD 20892, USA 2 Computational Biology Core, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD 20892, USA 3 Molecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD 20892, USA 4 Neurological Institute, Catholic University an...
متن کاملCHCHD10 mutations in Italian patients with sporadic amyotrophic lateral sclerosis.
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 ...
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ژورنال
عنوان ژورنال: Brain
سال: 2014
ISSN: 1460-2156,0006-8950
DOI: 10.1093/brain/awu300