Associated Papers
Review of the Genetic Spectrum of Hereditary Spastic Paraplegias in the Middle East and North Africa Regions.
Salari M et al.
Neurology. Genetics, 2025
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
A Novel Homozygous Deletion Including Exon 1 of FA2H Gene Causes Spastic Paraplegia-35: Genetic and Lipidomics Analysis of the Patients.
Mo L et al.
Pediatric Neurology, 2024
Novel Homozygous FA2H Variant Causing the Full Spectrum of Fatty Acid Hydroxylase-Associated Neurodegeneration (SPG35).
German A et al.
Genes, 2023
A novel neurodegenerative spectrum disorder in patients with MLKL deficiency.
Faergeman SL et al.
Cell Death & Disease, 2020
FAHN/SPG35: a narrow phenotypic spectrum across disease classifications.
Rattay TW et al.
Brain : a Journal of Neurology, 2019
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
Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic: The Mayo Clinic Experience.
Lazaridis KN et al.
Mayo Clinic Proceedings, 2016
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
Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35).
Dick KJ et al.
Human Mutation, 2010