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SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations.

Archive ouverte | Millecamps, Stéphanie | CCSD

International audience. BACKGROUND: Mutations in SOD1, ANG, VAPB, TARDBP and FUS genes have been identified in amyotrophic lateral sclerosis (ALS). METHODS: The relative contributions of the different mutations to A...

Genetic analysis of SS18L1 in French amyotrophic lateral sclerosis

Archive ouverte | Teyssou, Elisa | CCSD

International audience. Amyotrophic lateral sclerosis (ALS) is a devastating motor neuron disease including about 15% of genetically determined forms. A de novo mutation in the SS18L1 (also known as CREST or KIAA069...

Genetic screening of ANXA11 revealed novel mutations linked to Amyotrophic Lateral Sclerosis

Archive ouverte | Teyssou, Elisa | CCSD

International audience. ANXA11 mutations have previously been discovered in Amyotrophic Lateral Sclerosis (ALS) motor neuron disease. To confirm the contribution of ANXA11 mutations to ALS, a large exome dataset obt...

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