Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.Q716*
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SPG11

NM_025137.4:p.Q716*

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

Episodic Dystonia in an Infant with Spastic Paraplegia Type 11.

Bhanudeep S et al.

Indian Journal of Pediatrics, 2025

Investigating the genetic basis of hereditary spastic paraplegia and cerebellar Ataxia in Pakistani families.

Azeem A et al.

Bmc Neurology, 2024

Founder SPG11 Mutation in the Baniya Community of India.

Agarwal A et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2024

Investigating the Protective Role of the Mitochondrial 2158 T > C Variant in Parkinson's Disease.

Akçimen F et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2024

Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre.

Sheth J et al.

Orphanet Journal of Rare Diseases, 2024

39138584 (PubMed )
Supplement: 13023_2024_3300_MOESM3_ESM.xlsx › Disease_under_NMND

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

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

Southgate L et al.

Neurogenetics, 2010

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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."