Associated Papers
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
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
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
Sources of discordance among germ-line variant classifications in ClinVar.
Yang S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Alsin related disorders: literature review and case study with novel mutations.
Flor-de-Lima F et al.
Case Reports in Genetics, 2014
A novel compound heterozygous ALS2 mutation in two Italian siblings with juvenile amyotrophic lateral sclerosis.
Luigetti M et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2013
Dysfunction of constitutive and inducible ubiquitin-proteasome system in amyotrophic lateral sclerosis: implication for protein aggregation and immune response.
Bendotti C et al.
Progress in Neurobiology, 2012
Novel homozygous ALS2 nonsense mutation (p.Gln715X) in sibs with infantile-onset ascending spastic paralysis: the first cases from northwestern Europe.
Verschuuren-Bemelmans CC et al.
European Journal of Human Genetics : Ejhg, 2008
Distal axonopathy in an alsin-deficient mouse model.
Deng HX et al.
Human Molecular Genetics, 2007
Alsin, the product of ALS2 gene, suppresses SOD1 mutant neurotoxicity through RhoGEF domain by interacting with SOD1 mutants.
Kanekura K et al.
The Journal of Biological Chemistry, 2004
The first nonsense mutation in alsin results in a homogeneous phenotype of infantile-onset ascending spastic paralysis with bulbar involvement in two siblings.
Devon RS et al.
Clinical Genetics, 2003
The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis.
Yang Y et al.
Nature Genetics, 2001
Genetics of familial and sporadic amyotrophic lateral sclerosis.
Gros-Louis F et al.
Biochimica Et Biophysica Acta, 0
Molecular and cellular function of ALS2/alsin: implication of membrane dynamics in neuronal development and degeneration.
Hadano S et al.
Neurochemistry International, 0