Article
Genetic analysis of amyotrophic lateral sclerosis in the Slovenian population.
Neurobiology of aging - 1 Mar 2015
Vrabec Katarina, Koritnik Blaž, Leonardis Lea, Dolenc-Grošelj Leja, Zidar Janez, Smith Bradley, Vance Caroline, Shaw Christopher, Rogelj Boris, Glavač Damjan, Ravnik-Glavač Metka
Abstract excerpt
Amyotrophic lateral sclerosis (ALS) is a complex fatal neurodegenerative disease characterized by progressive degeneration and loss of upper motor neurons in the cerebral cortex and lower motor neurons in brainstem and spinal cord. We established the frequencies of mutations in 4 major ALS-associated genes, SOD1, TARDBP, FUS, and C9ORF72 in a representative cohort of 85 Slovenian patients with sporadic form of...
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