Value of systematic genetic screening of patients with amyotrophic lateral sclerosis.

Publikation

Value of systematic genetic screening of patients with amyotrophic lateral sclerosis.

Wissenschaftlicher Artikel/Review - 14.02.2021

Shepheard Stephanie R, Parker Matthew D, Cooper-Knock Johnathan, Verber Nick S, Tuddenham Lee, Heath Paul R, 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, Openshaw Peter J M, Project MINE Consortium, Project MinE

Zitation

Shepheard S, Parker M, Cooper-Knock J, Verber N, Tuddenham L, Heath P, Beauchamp N, Place E, Sollars E, Turner M, Malaspina A, Fratta P, Hewamadduma C, Jenkins T, McDermott C, Wang D, Kirby J, Openshaw P, Project MINE Consortium, Project MinE. Value of systematic genetic screening of patients with amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry 2021; 92:510-518.

Art

Wissenschaftlicher Artikel/Review (Englisch)

Zeitschrift

J Neurol Neurosurg Psychiatry 2021; 92

Veröffentlichungsdatum

14.02.2021

eISSN (Online)

1468-330X

Seiten

510-518

Kurzbeschreibung/Zielsetzung

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.