Varaico: Literature-Extracted Genetic Variants

Gene:SPAST
Variant:p.S545*
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SPAST

NM_014946.4:p.S545*

Associated Papers

Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics.

Nolasco GA et al.

Annals of Clinical and Translational Neurology, 2026

Experience in the clinical and genetic diagnosis of a series of Algerian patients with hereditary spastic paraplegias.

Messaoud-Khelifi M et al.

Neurogenetics, 2025

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG4

From spastic paraplegia to infantile neurodegenerative disorder: Expanding the phenotypic spectrum associated with biallelic SPAST variants.

Degoutin M et al.

European Journal of Neurology, 2025

Phase separation as a possible mechanism for dosage sensitivity.

Yang L et al.

Genome Biology, 2024

38225666 (PubMed )
Supplement: 13059_2023_3128_MOESM3_ESM.xlsx › NMD_mutations

A novel missense mutation in SPAST causes hereditary spastic paraplegia in male members of a family: A case report.

Wang XC et al.

Molecular Medicine Reports, 2023

Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4: A Cross-sectional Study by the Italian DAISY Network.

Rossi S et al.

Neurology. Genetics, 2022

Clinical Characterization of 2 Siblings with a Homozygous SPAST Variant.

Cruz-Camino H et al.

The American Journal of Case Reports, 2020

Clinical and Paraclinical Indicators of Motor System Impairment in Hereditary Spastic Paraplegia: A Pilot Study.

Martinuzzi A et al.

Plos One, 2016

27077743 (PubMed )
Supplement: pone.0153283.s002.pdf

Pleiotropic effects of spastin on neurite growth depending on expression levels.

Riano E et al.

Journal of Neurochemistry, 2009

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."