Varaico: Literature-Extracted Genetic Variants

Gene:FA2H
Variant:p.T207M
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FA2H

NM_024306.5:p.T207M

Associated Papers

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG35

Novel Homozygous FA2H Variant Causing the Full Spectrum of Fatty Acid Hydroxylase-Associated Neurodegeneration (SPG35).

German A et al.

Genes, 2023

Exploring the genetic and genomic connection underlying neurodegeneration with brain iron accumulation and the risk for Parkinson's disease.

Alvarez Jerez P et al.

Npj Parkinson's Disease, 2023

Genetic origin of patients having spastic paraplegia with or without other neurologic manifestations.

Chen J et al.

Bmc Neurology, 2022

FAHN/SPG35: a narrow phenotypic spectrum across disease classifications.

Rattay TW et al.

Brain : a Journal of Neurology, 2019

Clinical and neuroimaging features of autosomal recessive spastic paraplegia 35 (SPG35): case reports, new mutations, and brief literature review.

Mari F et al.

Neurogenetics, 2018

Exome sequencing reveals two FA2H mutations in a family with a complicated form of Hereditary Spastic Paraplegia and psychiatric impairments.

Magariello A et al.

Journal of the Neurological Sciences, 2017

Hereditary spastic paraplegia type 35 caused by a novel FA2H mutation.

Bektaş G et al.

The Turkish Journal of Pediatrics, 2017

Genetic and phenotypic characterization of complex hereditary spastic paraplegia.

Kara E et al.

Brain : a Journal of Neurology, 2016

27217339 (PubMed )
Supplement: aww111_supplementary_data.zip › brain-2015-01890-File006.pdf

Cerebral Iron Accumulation Is Not a Major Feature of FA2H/SPG35.

Marelli C et al.

Movement Disorders Clinical Practice, 2015

Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48.

Pensato V et al.

Brain : a Journal of Neurology, 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."