Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.S148Splc
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SPG11

NM_025137.4:p.S148Splc

Associated Papers

Longitudinal Dynamics of Plasma Neurofilament Light Chain in Hereditary Spastic Paraplegia Type 11 (HSP-SPG11) and Type 15 (HSP-ZFYVE26).

Agianda HAP et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2025

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

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

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

SPG11 mutations cause widespread white matter and basal ganglia abnormalities, but restricted cortical damage.

Faber I et al.

Neuroimage. Clinical, 2018

Clinical and genetic study of hereditary spastic paraplegia in Canada.

Chrestian N et al.

Neurology. Genetics, 2017

27957547 (PubMed )
Supplement: supp_3.1.e122_Table_e-1.xls › Feuil1

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

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

Point mutations and a large intragenic deletion in SPG11 in complicated spastic paraplegia without thin corpus callosum.

Crimella C et al.

Journal of Medical Genetics, 2009

Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia.

Hehr U et al.

Annals of 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."