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
FAHN/SPG35: a narrow phenotypic spectrum across disease classifications.
Rattay TW et al.
Brain : a Journal of Neurology, 2019
Hereditary spastic paraplegia type 35 caused by a novel FA2H mutation.
Bektaş G et al.
The Turkish Journal of Pediatrics, 2017
Novel FA2H mutation in a girl with familial spastic paraplegia.
Aguirre-Rodríguez FJ et al.
Journal of the Neurological Sciences, 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
Phenotypic variability of a likely FA2H founder mutation in a family with complicated hereditary spastic paraplegia.
Donkervoort S et al.
Clinical Genetics, 2014
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
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
Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA).
Kruer MC et al.
Annals of Neurology, 2010
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