Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.Q1436fs
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SPG11

NM_025137.4:p.Q1436fs

Associated Papers

Natural history in hereditary spastic paraplegias: real-world data from an Austrian cohort.

Amprosi M et al.

Journal of Neurology, 2026

Hyperactivity of the non-canonical inflammasome in SPG11 and SPG48.

Afzal MA et al.

Ebiomedicine, 2025

41138668 (PubMed )
Supplement: mmc2.pdf

Burden of pathogenetic and likely pathogenetic variants in SPG7, SPG11 and AP4 genes in Amyotrophic Lateral Sclerosis. A case-control study.

Doronzio PN et al.

Journal of Neurology, 2025

The genetic and phenotypic spectra of adult genetic leukoencephalopathies in a cohort of 309 patients.

Wu C et al.

Brain : a Journal of Neurology, 2023

36380532 (PubMed )
Supplement: awac426_supplementary_data.pdf

Clinical analysis in patients with SPG11 hereditary spastic paraplegia.

Kang YR et al.

Frontiers in Neurology, 2023

SPG11: clinical and genetic features of seven Czech patients and literature review.

Doleckova K et al.

Neurological Research, 2022

Clinical Features and Genetic Spectrum of Patients With Clinically Suspected Hereditary Progressive Spastic Paraplegia.

Shi Y et al.

Frontiers in Neurology, 2022

First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery.

Hengel H et al.

European Journal of Human Genetics : Ejhg, 2020

Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing.

Lynch DS et al.

European Journal of Human Genetics : Ejhg, 2016

Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48.

Pensato V et al.

Brain : a Journal of Neurology, 2014

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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."