Associated Papers
KIF5A p.Pro986Leu Risk Variant and Accelerated Progression of Amyotrophic Lateral Sclerosis.
Manini A et al.
Annals of Clinical and Translational Neurology, 2025
40276954 (PubMed )
Supplement: ACN3-12-1499-s001.docx
ALS Identified: two-year findings from a sponsored ALS genetic testing program.
Goutman SA et al.
Annals of Clinical and Translational Neurology, 2024
39044379 (PubMed )
Supplement: ACN3-11-2201-s003.xlsx › ClinGen_VariantClassification
Genetic variability in sporadic amyotrophic lateral sclerosis.
Van Daele SH et al.
Brain : a Journal of Neurology, 2023
37043475 (PubMed )
Supplement: awad120_supplementary_data.zip › brain-2022-02191-File008.xlsx › suppl_table_7_VUS
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
OPTN variants in ALS cases: a case report of a novel mutation and literature review.
Mou Y et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022
Prove pathogenicity of OPTN variants before establishing a causal relation with amyotrophic lateral sclerosis.
Finsterer J et al.
Neurobiology of Aging, 2021
Authors' reply: Four novel optineurin mutations in patients with sporadic amyotrophic lateral sclerosis in Mainland China.
Yang L et al.
Neurobiology of Aging, 2021
Mutational Analysis of Known ALS Genes in an Italian Population-Based Cohort.
Grassano M et al.
Neurology, 2021
Four novel optineurin mutations in patients with sporadic amyotrophic lateral sclerosis in Mainland China.
Yang L et al.
Neurobiology of Aging, 2021
Theme 2 Genetics and genomics.
Roggenbuck J et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2019
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