Varaico: Literature-Extracted Genetic Variants

Gene:SPAST
Variant:p.G471D
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SPAST

NM_014946.4:p.G471D

Associated Papers

Comprehensive Characterization of Spastic Paraplegia in Korean Patients: A Single-Center Experience over Two Decades.

Choi Y et al.

Yonsei Medical Journal, 2026

41431411 (PubMed )
Supplement: ymj-67-34-s001.pdf

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

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

Limited sensitivity of somatosensory evoked potentials as disease monitoring biomarkers in hereditary spastic paraplegias.

Spengler FAM et al.

Plos One, 2025

41218046 (PubMed )
Supplement: pone.0335187.s003.xlsx › Planilha1

Clinical and molecular characterization of a large cohort of childhood onset hereditary spastic paraplegias.

Giordani GM et al.

Scientific Reports, 2021

34782662 (PubMed )
Supplement: 41598_2021_1635_MOESM2_ESM.xlsx › Plan1

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

De novo SPAST mutations may cause a complex SPG4 phenotype.

Schieving JH et al.

Brain : a Journal of Neurology, 2019

Clinical and molecular characterization of hereditary spastic paraplegias: A next-generation sequencing panel approach.

Burguez D et al.

Journal of the Neurological Sciences, 2017

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

Hereditary spastic paraplegia SPG4: what is known and not known about the disease.

Solowska JM et al.

Brain : a Journal of Neurology, 2015

Infantile onset of hereditary spastic paraplegia poorly predicts the genotype.

Blair MA et al.

Pediatric Neurology, 2007

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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."