Associated Papers
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
Hereditary spastic paraplegia type 35 in a Turkish girl with fatty acid hydroxylase-associated neurodegeneration.
Engin Erdal A et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2024
Novel Homozygous FA2H Variant Causing the Full Spectrum of Fatty Acid Hydroxylase-Associated Neurodegeneration (SPG35).
German A et al.
Genes, 2023
Delineation of molecular findings by whole-exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese population.
Tsang MHY et al.
Human Genomics, 2020
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
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
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
Neurodegeneration with brain iron accumulation - clinical syndromes and neuroimaging.
Schipper HM
Biochimica Et Biophysica Acta, 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
Genetics of neurodegeneration with brain iron accumulation.
Gregory A et al.
Current Neurology and Neuroscience Reports, 2011
Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA).
Kruer MC et al.
Annals of Neurology, 2010
Neurodegeneration with brain iron accumulation.
Gregory A et al.
Folia Neuropathologica, 2005