Associated Papers
Rare-variant aggregation highlights disease-linked genes associated with brain volume variation.
Wightman DP et al.
American Journal of Human Genetics, 2026
Advancing neurogenetics in Africa: past achievements, current developments and shaping the future.
Landouré G et al.
Nature Reviews. Neurology, 2025
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
Hereditary spastic paraplegia in Mali: epidemiological and clinical features.
Diarra S et al.
Acta Neurologica Belgica, 2023
A review of the genetic spectrum of hereditary spastic paraplegias, inherited neuropathies and spinal muscular atrophies in Africans.
Mahungu AC et al.
Orphanet Journal of Rare Diseases, 2022
Hereditary spastic paraplegia type 35 in a family from Mali.
Landouré G et al.
American Journal of Medical Genetics. Part A, 2019
FAHN/SPG35: a narrow phenotypic spectrum across disease classifications.
Rattay TW et al.
Brain : a Journal of Neurology, 2019
The Interaction of Genetic Mutations in PARK2 and FA2H Causes a Novel Phenotype in a Case of Childhood-Onset Movement Disorder.
Benger M et al.
Frontiers in Neurology, 2019
Hereditary spastic paraplegia type 35 caused by a novel FA2H mutation.
Bektaş G et al.
The Turkish Journal of Pediatrics, 2017
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
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
2-Hydroxylated sphingomyelin profiles in cells from patients with mutated fatty acid 2-hydroxylase.
Dan P et al.
Lipids in Health and Disease, 2011
Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA).
Kruer MC et al.
Annals of Neurology, 2010
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