Reply: Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease
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Reply: Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease.
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 کاملTwo novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease.
1 Department of Neurology, Ulm University, Ulm, Germany 2 Department of Pharmacology and Clinical Neuroscience, Umeå University, Umeå, Sweden 3 Virtual Helmholtz Institute RNA Dysmetabolism in Amyotrophic Lateral Sclerosis and Fronto-Temporal Dementia, Germany 4 Institute of Human Genetics, Ulm University, Ulm, Germany 5 Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, German...
متن کاملA distinct clinical phenotype in a German kindred with motor neuron disease carrying a CHCHD10 mutation.
Sir, Emerging data provide evidence for CHCHD10 as a new candidate gene in familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) (Bannwarth et al., 2014; Johnson et al., 2014; Müller et al., 2014). This gene encodes a mitochondrial protein located in the intermembrane space (Bannwarth et al., 2014). Mutant CHCHD10 may lead to altered mitochondrial genome stability and m...
متن کاملA Novel Nonsense mutation in PANK2 Gene in Two Patients with Pantothenate Kinase-Associated Neurodegeneration
Pantothenate kinase- associated neurodegeneration (PKAN) syndrome is a rare autosomal recessive disorder characterized by progressive extrapyramidal dysfunction and iron accumulation in the brain and axonal spheroids in the central nervous system. It has been shown that the disorder is caused by mutations in PANK2 gene which codes for a mitochondrial enzyme participating in coenzyme A biosynthe...
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 ...
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ژورنال
عنوان ژورنال: Brain
سال: 2014
ISSN: 1460-2156,0006-8950
DOI: 10.1093/brain/awu228