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
A Novel TBK1 Variant (Lys694del) Presenting With Corticobasal Syndrome in a Family With FTD-ALS Spectrum Diseases: Case Report.
Seibert K et al.
Frontiers in Neurology, 2022
High-Throughput Genetic Testing in ALS: The Challenging Path of Variant Classification Considering the ACMG Guidelines.
Lattante S et al.
Genes, 2020
32987860 (PubMed )
Supplement: genes-11-01123-s001.zip › Supplementary_Table_I.xlsx › Variant_list
Evidence for polygenic and oligogenic basis of Australian sporadic amyotrophic lateral sclerosis.
McCann EP et al.
Journal of Medical Genetics, 2020
The SETX missense variation spectrum as evaluated in patients with ALS4-like motor neuron diseases.
Arning L et al.
Neurogenetics, 2013
Select a paper to view details