Associated Papers
Infantile-Onset Ascending Hereditary Spastic Paraplegia due to a Homozygous ALS2 Exons 24-25 Deletion: Expanding the Genotypic Spectrum.
Colona VL et al.
American Journal of Medical Genetics. Part A, 2025
A systematic review and functional in-silico analysis of genes and variants associated with amyotrophic lateral sclerosis.
Arreola-Aldape CA et al.
Frontiers in Neuroscience, 2025
40589786 (PubMed )
Supplement: Table_4.xlsx › ClinVar_filtered_variants
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 expanding clinical and genetic spectrum of alsin-related disorders: the first cohort of Brazilian patients.
Alves De Siqueira Carvalho A et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2022
ALS2-Related Motor Neuron Diseases: From Symptoms to Molecules.
Miceli M et al.
Biology, 2022
35053075 (PubMed )
Supplement: biology-11-00077-s001.zip › supplementary.pdf
Destination Amyotrophic Lateral Sclerosis.
Keon M et al.
Frontiers in Neurology, 2021
33854469 (PubMed )
Supplement: Table_1.XLSX › Genes
ALS2 mutations: juvenile amyotrophic lateral sclerosis and generalized dystonia.
Sheerin UM et al.
Neurology, 2014
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