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
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
ALS2-related disorders in Spanish children: a severely affected case of infantile ascending spastic paraplegia due to homozygous R704X mutation.
Nogueira E et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022
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
ALS2-related disorders in Spanish children.
Nogueira E et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021
Altered oligomeric states in pathogenic ALS2 variants associated with juvenile motor neuron diseases cause loss of ALS2-mediated endosomal function.
Sato K et al.
The Journal of Biological Chemistry, 2018
Infantile-onset ascending hereditary spastic paralysis: a case report and brief literature review.
Racis L et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2014
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
Defective relocalization of ALS2/alsin missense mutants to Rac1-induced macropinosomes accounts for loss of their cellular function and leads to disturbed amphisome formation.
Otomo A et al.
Febs Letters, 2011
An interrupted beta-propeller and protein disorder: structural bioinformatics insights into the N-terminus of alsin.
Soares DC et al.
Journal of Molecular Modeling, 2009
First case of compound heterozygosity in ALS2 gene in infantile-onset ascending spastic paralysis with bulbar involvement.
Sztriha L et al.
Clinical Genetics, 2008
ALS2/alsin knockout mice and motor neuron diseases.
Cai H et al.
Neuro-degenerative Diseases, 2008
Alsin and the molecular pathways of amyotrophic lateral sclerosis.
Chandran J et al.
Molecular Neurobiology, 2007
The first ALS2 missense mutation associated with JPLS reveals new aspects of alsin biological function.
Panzeri C et al.
Brain : a Journal of Neurology, 2006
Molecular and cellular function of ALS2/alsin: implication of membrane dynamics in neuronal development and degeneration.
Hadano S et al.
Neurochemistry International, 0