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
Investigating the genetic basis of hereditary spastic paraplegia and cerebellar Ataxia in Pakistani families.
Azeem A et al.
Bmc Neurology, 2024
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
Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar Disorders.
Saadi SM et al.
Genes, 2023
NGS-driven molecular diagnosis of heterogeneous hereditary neurological disorders reveals novel and known variants in disease-causing genes.
Khan A et al.
Molecular Genetics and Genomics : Mgg, 2022
Exome sequencing of a Pakistani family with spastic paraplegia identified an 18 bp deletion in the cytochrome B5 domain of FA2H.
Abbas S et al.
Neurological Research, 2021
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
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
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
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
Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35).
Dick KJ et al.
Human Mutation, 2010
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