Article
Value of systematic genetic screening of patients with amyotrophic lateral sclerosis.
Journal of neurology, neurosurgery, and psychiatry - 1 May 2021
Shepheard Stephanie R, Parker Matthew D, Cooper-Knock Johnathan, Verber Nick S, Tuddenham Lee, Heath Paul, Beauchamp Nick, Place Elsie, Sollars Elizabeth S A, Turner Martin R, Malaspina Andrea, Fratta Pietro, Hewamadduma Channa, Jenkins Thomas M, McDermott Christopher J, Wang Dennis, Kirby Janine, Shaw Pamela J
Abstract excerpt
OBJECTIVE: The clinical utility of routine genetic sequencing in amyotrophic lateral sclerosis (ALS) is uncertain. Our aim was to determine whether routine targeted sequencing of 44 ALS-relevant genes would have a significant impact on disease subclassification and clinical care. METHODS: We performed targeted sequencing of a 44-gene panel in a prospective case series of 100 patients with ALS recruited...
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