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Liver X Receptor Genes Variants Modulate ALS Phenotype

Archive ouverte | Mouzat, Kevin | CCSD

International audience. Amyotrophic lateral sclerosis (ALS) is one of the most severe motor neuron (MN) disorders in adults. Phenotype of ALS patients is highly variable and may be influenced by modulators of energy...

Intermediate C9orf72 repeat numbers are not ALS risk factors

Archive ouverte | Mouzat, Kevin | CCSD

International audience. Introduction:Amyotrophic lateral sclerosis (ALS) is one of the most severe motor neuron (MN) disorders in adults. The C9orf72 repeat expansion is the most common geneti...

Phenotype and genotype analysis in amyotrophic lateral sclerosis with TARDBP gene mutations.

Archive ouverte | Corcia, Philippe | CCSD

International audience. OBJECTIVE: To describe the phenotype and phenotype-genotype correlations in patients with amyotrophic lateral sclerosis (ALS) with TARDBP gene mutations. METHODS: French TARDBP+ patients with...

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