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
Uniparental disomy determined by whole-exome sequencing in a spectrum of rare motoneuron diseases and ataxias.
Bis DM et al.
Molecular Genetics & Genomic Medicine, 2017
Hereditary spastic paraplegia type 35 caused by a novel FA2H mutation.
Bektaş G et al.
The Turkish Journal of Pediatrics, 2017
Uniparental disomy of chromosome 16 unmasks recessive mutations of FA2H/SPG35 in 4 families.
Soehn AS et al.
Neurology, 2016
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