Associated Papers
Characterising the Genetic Landscape of Amyotrophic Lateral Sclerosis: A Catalogue and Assessment of Over 1,000 Published Genetic Variants.
McCann EP et al.
Journal of Neuromuscular Diseases, 2023
37638449 (PubMed )
Supplement: jnd-10-jnd230148-s001.xlsx › variant_list
Variable clinical phenotype in TBK1 mutations: case report of a novel mutation causing primary progressive aphasia and review of the literature.
Swift IJ et al.
Neurobiology of Aging, 2021
TBK1 mutations in Italian patients with amyotrophic lateral sclerosis: genetic and functional characterisation.
Pozzi L et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2017
28822984 (PubMed )
Supplement: jnnp-2017-316174supp001.pdf
TBK1 is associated with ALS and ALS-FTD in Sardinian patients.
Borghero G et al.
Neurobiology of Aging, 2016
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