Associated Papers
The First Case of Autosomal Recessive Cerebellar Ataxia with Prominent Paroxysmal Non-kinesigenic Dyskinesia Caused by a Truncating FGF14 Variant in a Turkish Patient.
Türkdoğan D et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2025
In Vivo Expression of an SCA27A-linked FGF14 Mutation Results in Haploinsufficiency and Impaired Firing of Cerebellar Purkinje Neurons.
Ransdell JL et al.
Biorxiv : the Preprint Server for Biology, 2024
Analysis of Fibroblast Growth Factor 14 (FGF14) structural variants reveals the genetic basis of the early onset nystagmus locus NYS4 and variable ataxia.
Ceroni F et al.
European Journal of Human Genetics : Ejhg, 2023
36207621 (PubMed )
Supplement: 41431_2022_1197_MOESM1_ESM.docx
Spinocerebellar ataxias (SCAs) caused by common mutations.
Müller U
Neurogenetics, 2021
Broader phenotypic traits and widespread brain hypometabolism in spinocerebellar ataxia 27.
Paucar M et al.
Journal of Internal Medicine, 2020
32112487 (PubMed )
Supplement: NIHMS1883460-supplement-Supplementary_material.docx
Spinocerebellar ataxia 27 with a novel nonsense variant (Lys177X) in FGF14.
Miura S et al.
European Journal of Medical Genetics, 2019
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