Varaico: Literature-Extracted Genetic Variants

Gene:ATL1
Variant:p.G409D
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ATL1

NM_015915.5:p.G409D

Associated Papers

Patients with complex and very-early-onset ATL1-related spastic paraplegia offer insights on genotype/phenotype correlations and support for autosomal recessive forms of SPG3A.

Hamamie-Chaar A et al.

Journal of Neurology, 2024

A novel insertion mutation in atlastin 1 is associated with spastic quadriplegia, increased membrane tethering, and aberrant conformational switching.

Kelly CM et al.

The Journal of Biological Chemistry, 2022

Novel ATL1 mutation in a Chinese family with hereditary spastic paraplegia: A case report and review of literature.

Xiao XW et al.

World Journal of Clinical Cases, 2019

Risk Factors for Dystonia after Selective Dorsal Rhizotomy in Nonwalking Children and Adolescents with Bilateral Spasticity.

van de Pol LA et al.

Neuropediatrics, 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 features and genotype-phenotype correlation analysis in patients with ATL1 mutations: A literature reanalysis.

Zhao GH et al.

Translational Neurodegeneration, 2017

Extremely severe complicated spastic paraplegia 3A with neonatal onset.

Yonekawa T et al.

Pediatric Neurology, 2014

[Abstracts of the 56th Annual Meeting of the Japanese Society of Child Neurology. May 29-31, 2014. Hamamatsu, Japan].

Unknown Author

No to Hattatsu = Brain and Development, 2014

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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."