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
The 2022 Lady Estelle Wolfson lectureship on neurofilaments.
Petzold A
Journal of Neurochemistry, 2022
SOD1-related ALS with anticipation in a large family from Martinique.
Giguet-Valard AG et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2021
Sequencing of neurofilament genes identified NEFH Ser787Arg as a novel risk variant of sporadic amyotrophic lateral sclerosis in Chinese subjects.
Lin F et al.
Bmc Medical Genomics, 2021
Using reference databases of genetic variation to evaluate the potential pathogenicity of candidate disease variants.
Kenna KP et al.
Human Mutation, 2013
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