Article
Replication study of MATR3 in familial and sporadic amyotrophic lateral sclerosis.
Neurobiology of aging - 1 Jan 2016
Leblond Claire S, Gan-Or Ziv, Spiegelman Dan, Laurent Sandra B, Szuto Anna, Hodgkinson Alan, Dionne-Laporte Alexandre, Provencher Pierre, de Carvalho Mamede, Orrù Sandro, Brunet Denis, Bouchard Jean-Pierre, Awadalla Philip, Dupré Nicolas, Dion Patrick A, Rouleau Guy A
Abstract excerpt
Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disorder characterized by an extensive loss of motor neurons in the primary motor cortex, brainstem, and spinal cord. Genetic studies report a high heritability of ALS. Recently, whole-exome sequencing analysis of familial ALS (FALS) patients allowed the identification of missense variations within the MATR3 gene. MATR3 was previously...
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