Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.C133delFs
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SPG11

NM_025137.4:p.C133delFs

Associated Papers

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG11

Severe axonal neuropathy is a late manifestation of SPG11.

Manole A et al.

Journal of Neurology, 2016

Genetic and phenotypic characterization of complex hereditary spastic paraplegia.

Kara E et al.

Brain : a Journal of Neurology, 2016

ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.

Montecchiani C et al.

Brain : a Journal of Neurology, 2016

Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafish.

Southgate L et al.

Neurogenetics, 2010

20390432 (PubMed )
Supplement: 10048_2010_243_MOESM2_ESM.pdf

Clinical heterogeneity and genotype-phenotype correlations in hereditary spastic paraplegia because of Spatacsin mutations (SPG11).

Paisan-Ruiz C et al.

European Journal of Neurology, 2008

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