Associated Papers
The Undiagnosed Diseases Network (UDN) Solves Ocular Syndromic Diagnostic Dilemmas.
Tinker RJ et al.
American Journal of Ophthalmology, 2025
40780579 (PubMed )
Supplement: NIHMS2116078-supplement-Supplementary_Material.pdf
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
Zech M et al.
Brain : a Journal of Neurology, 2025
39937650 (PubMed )
Supplement: awaf059_supplementary_data.zip › brain-2024-02450-File011.pdf
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG35
Proteome-scale characterisation of motif-based interactome rewiring by disease mutations.
Kliche J et al.
Molecular Systems Biology, 2024
39009827 (PubMed )
Supplement: 44320_2024_55_MOESM5_ESM.xlsx › A-binding_peptides
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
Uniparental disomy of chromosome 16 unmasks recessive mutations of FA2H/SPG35 in 4 families.
Soehn AS et al.
Neurology, 2016
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