Associated Papers
Rare-variant aggregation highlights disease-linked genes associated with brain volume variation.
Wightman DP et al.
American Journal of Human Genetics, 2026
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
Novel Homozygous FA2H Variant Causing the Full Spectrum of Fatty Acid Hydroxylase-Associated Neurodegeneration (SPG35).
German A et al.
Genes, 2023
Generation of the human iPSC lines AKOSi011-A carrying the mutation p.Pro65Ser/p.Asp35T and AKOSi012-A, carrying the mutation p.Tyr231His, derived from FAHN patient fibroblasts.
Efendic F et al.
Stem Cell Research, 2023
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
FA2H Mutations in a Young Adult Presenting as an Isolated Cognitive Impairment Syndrome.
Leal Ferman LA et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2020
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
Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study.
D'Amore A et al.
Frontiers in Neurology, 2018
Hereditary spastic paraplegia type 35 caused by a novel FA2H mutation.
Bektaş G et al.
The Turkish Journal of Pediatrics, 2017
Cerebral Iron Accumulation Is Not a Major Feature of FA2H/SPG35.
Marelli C et al.
Movement Disorders Clinical Practice, 2015
SPG35 contributes to the second common subtype of AR-HSP in China: frequency analysis and functional characterization of FA2H gene mutations.
Liao X et al.
Clinical Genetics, 2015
Heterozygous FA2H mutations in autism spectrum disorders.
Scheid I et al.
Bmc Medical Genetics, 2013
Novel Mutations in FA2H-Associated Neurodegeneration: An Underrecognized Condition?
Rupps R et al.
Journal of Child Neurology, 2013
A rare family with Hereditary Spastic Paraplegia Type 35 due to novel FA2H mutations: a case report with literature review.
Cao L et al.
Journal of the Neurological Sciences, 2013
Atypical adult onset complicated spastic paraparesis with thin corpus callosum in two patients carrying a novel FA2H mutation.
Tonelli A et al.
European Journal of Neurology, 2012
Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration.
Pierson TM et al.
European Journal of Human Genetics : Ejhg, 2012
FA2H-related disorders: a novel c.270+3A>T splice-site mutation leads to a complex neurodegenerative phenotype.
Garone C et al.
Developmental Medicine and Child Neurology, 2011
Central nervous system dysfunction in a mouse model of FA2H deficiency.
Potter KA et al.
Glia, 2011
Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia.
Edvardson S et al.
American Journal of Human Genetics, 2008