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
Clinical features and molecular genetic investigation of infantile-onset ascending hereditary spastic paralysis (IAHSP) in two Chinese siblings caused by a novel splice site ALS2 variation.
Zhang Q et al.
Bmc Medical Genomics, 2024
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
Mutations and Protein Interaction Landscape Reveal Key Cellular Events Perturbed in Upper Motor Neurons with HSP and PLS.
Gozutok O et al.
Brain Sciences, 2021
Clinical presentation and natural history of infantile-onset ascending spastic paralysis from three families with an ALS2 founder variant.
Helal M et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2018
Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias.
Morais S et al.
European Journal of Human Genetics : Ejhg, 2017
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
Absence of alsin function leads to corticospinal motor neuron vulnerability via novel disease mechanisms.
Gautam M et al.
Human Molecular Genetics, 2016
Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan.
Elsayed LEO et al.
European Journal of Human Genetics : Ejhg, 2016
Identification of two novel ALS2 mutations in infantile-onset ascending hereditary spastic paraplegia.
Daud S et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2016
Novel compound heterozygous ALS2 mutations in two Chinese siblings with infantile ascending hereditary spastic paralysis.
Xie F et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2015
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
[Clinical analysis of heterozygous ABCA3 mutations in children].
Xu X et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2014
Infantile-onset ascending hereditary spastic paraplegia with bulbar involvement due to the novel ALS2 mutation c.2761C>T.
Wakil SM et al.
Gene, 2014
A novel homozygous mutation in ALS2 gene in four siblings with infantile-onset ascending hereditary spastic paralysis.
Eker HK et al.
European Journal of Medical Genetics, 0