Article
Matrin 3 variants are frequent in Italian ALS patients.
Neurobiology of aging - 1 Jan 2017
Marangi Giuseppe, Lattante Serena, Doronzio Paolo Niccolò, Conte Amelia, Tasca Giorgio, Monforte Mauro, Patanella Agata Katia, Bisogni Giulia, Meleo Emiliana, La Spada Salvatore, Zollino Marcella, Sabatelli Mario
Abstract excerpt
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by loss of motor neurons in the primary motor cortex, brainstem, and spinal cord. Recently, missense variants in MATR3 were identified in familial and sporadic ALS patients, but very few additional ALS patients have been reported so far. The p.S85C MATR3 variant was previously associated to a different phenotype, namely a distal...
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