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
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
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
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
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
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