Varaico: Literature-Extracted Genetic Variants

Gene:SPAST
Variant:p.G377E
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SPAST

NM_014946.4:p.G377E

Associated Papers

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

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

New cellular imaging-based method to distinguish the SPG4 subtype of hereditary spastic paraplegia.

Sardina F et al.

European Journal of Neurology, 2023

Reply to: Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST.

Saffari A et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2023

An allosteric network in spastin couples multiple activities required for microtubule severing.

Sandate CR et al.

Nature Structural & Molecular Biology, 2019

31285604 (PubMed )
Supplement: NIHMS1530257-supplement-3.pdf

Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study.

D'Amore A et al.

Frontiers in Neurology, 2018

Truncating mutations in SPAST patients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia.

Chelban V et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2017

A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes.

Dufke C et al.

Neurogenetics, 2012

Detection of novel mutations and review of published data suggests that hereditary spastic paraplegia caused by spastin (SPAST) mutations is found more often in males.

Proukakis C et al.

Journal of the Neurological Sciences, 2011

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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."