Genetic epidemiology of amyotrophic lateral sclerosis in Cyprus: a population-based study.

Abstract excerpt

Amyotrophic lateral sclerosis (ALS) is a devastating, uniformly lethal degenerative disease of motor neurons, presenting with relentlessly progressive muscle atrophy and weakness. More than fifty genes carrying causative or disease-modifying variants have been identified since the 1990s, when the first ALS-associated variant in the gene SOD1 was discovered. The most commonly mutated ALS genes in the European...

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• Amyotrophic Lateral Sclerosis
• C9orf72 Protein
• Cohort Studies
• Cyprus
• High-Throughput Nucleotide Sequencing