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
Identification and characterisation of pathogenic and non-pathogenic FGF14 repeat expansions.
Mohren L et al.
Nature Communications, 2024
Loss of Intracellular Fibroblast Growth Factor 14 (iFGF14) Increases the Excitability of Mature Hippocampal and Cortical Pyramidal Neurons.
Ransdell JL et al.
Biorxiv : the Preprint Server for Biology, 2024
Limitations of human tau-expressing mouse models and novel approaches of mouse modeling for tauopathy.
Sahara N et al.
Frontiers in Neuroscience, 2023
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
Spinocerebellar ataxia 27 with a novel nonsense variant (Lys177X) in FGF14.
Miura S et al.
European Journal of Medical Genetics, 2019
Ion channel dysfunction in cerebellar ataxia.
Bushart DD et al.
Neuroscience Letters, 2019
GWAS links variants in neuronal development and actin remodeling related loci with pseudoexfoliation syndrome without glaucoma.
Zagajewska K et al.
Experimental Eye Research, 2018
Spinocerebellar Ataxia 27: A Review and Characterization of an Evolving Phenotype.
Groth CL et al.
Tremor and Other Hyperkinetic Movements (new York, N.y.), 2018
Purkinje Cell Signaling Deficits in Animal Models of Ataxia.
Hoxha E et al.
Frontiers in Synaptic Neuroscience, 2018
PPARgamma agonists rescue increased phosphorylation of FGF14 at S226 in the Tg2576 mouse model of Alzheimer's disease.
Hsu WJ et al.
Experimental Neurology, 2017
Intracellular Fibroblast Growth Factor 14: Emerging Risk Factor for Brain Disorders.
Di Re J et al.
Frontiers in Cellular Neuroscience, 2017
FGF13 modulates the gating properties of the cardiac sodium channel Nav1.5 in an isoform-specific manner.
Yang J et al.
Channels (austin, Tex.), 2016
Cerebellar ataxias: β-III spectrin's interactions suggest common pathogenic pathways.
Perkins E et al.
The Journal of Physiology, 2016
CK2 activity is required for the interaction of FGF14 with voltage-gated sodium channels and neuronal excitability.
Hsu WC et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2016
Genetic deletion of fibroblast growth factor 14 recapitulates phenotypic alterations underlying cognitive impairment associated with schizophrenia.
Alshammari TK et al.
Translational Psychiatry, 2016
Pathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathy.
Wagnon JL et al.
Annals of Clinical and Translational Neurology, 2016
A novel frameshift mutation in FGF14 causes an autosomal dominant episodic ataxia.
Choquet K et al.
Neurogenetics, 2015
Disruption of Fgf13 causes synaptic excitatory-inhibitory imbalance and genetic epilepsy and febrile seizures plus.
Puranam RS et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2015
The autosomal dominant spinocerebellar ataxias: emerging mechanistic themes suggest pervasive Purkinje cell vulnerability.
Hekman KE et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2015
Identifying a kinase network regulating FGF14:Nav1.6 complex assembly using split-luciferase complementation.
Hsu WC et al.
Plos One, 2015
Parallel fiber to Purkinje cell synaptic impairment in a mouse model of spinocerebellar ataxia type 27.
Tempia F et al.
Frontiers in Cellular Neuroscience, 2015
A new variable phenotype in spinocerebellar ataxia 27 (SCA 27) caused by a deletion in the FGF14 gene.
Coebergh JA et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2014
Translating cerebellar Purkinje neuron physiology to progress in dominantly inherited ataxia.
Chopra R et al.
Future Neurology, 2014
Role of the axonal initial segment in psychiatric disorders: function, dysfunction, and intervention.
Hsu WC et al.
Frontiers in Psychiatry, 2014
FGF14 regulates presynaptic Ca2+ channels and synaptic transmission.
Yan H et al.
Cell Reports, 2013
Spinocerebellar ataxia type 27 (SCA27) is an uncommon cause of dominant ataxia among Chinese Han population.
Chen Z et al.
Neuroscience Letters, 2012
Bioluminescence methodology for the detection of protein-protein interactions within the voltage-gated sodium channel macromolecular complex.
Shavkunov A et al.
Assay and Drug Development Technologies, 2012
Fibroblast growth factor homologous factor 13 regulates Na+ channels and conduction velocity in murine hearts.
Wang C et al.
Circulation Research, 2011
Isoform-specific and pan-channel partners regulate trafficking and plasma membrane stability; and alter sodium channel gating properties.
Dib-Hajj SD et al.
Neuroscience Letters, 2010
Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond.
Durr A
The Lancet. Neurology, 2010
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
FGF14 N-terminal splice variants differentially modulate Nav1.2 and Nav1.6-encoded sodium channels.
Laezza F et al.
Molecular and Cellular Neurosciences, 2009
SCA27 caused by a chromosome translocation: further delineation of the phenotype.
Misceo D et al.
Neurogenetics, 2009
Molecular pathology of the fibroblast growth factor family.
Krejci P et al.
Human Mutation, 2009
FGF14 regulates the intrinsic excitability of cerebellar Purkinje neurons.
Shakkottai VG et al.
Neurobiology of Disease, 2009
The FGF14(F145S) mutation disrupts the interaction of FGF14 with voltage-gated Na+ channels and impairs neuronal excitability.
Laezza F et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2007
Genetic analysis of SCA 27 in ataxia and childhood onset postural tremor.
Zhao Y et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2007
Impaired spatial learning and defective theta burst induced LTP in mice lacking fibroblast growth factor 14.
Wozniak DF et al.
Neurobiology of Disease, 2007
Impaired hippocampal synaptic transmission and plasticity in mice lacking fibroblast growth factor 14.
Xiao M et al.
Molecular and Cellular Neurosciences, 2007
Inborn errors of development: disruption of pathways critical for normal development.
Wynshaw-Boris A
Pediatric Clinics of North America, 2006
Spinocerebellar ataxia associated with a mutation in the fibroblast growth factor 14 gene (SCA27): A new phenotype.
Brusse E et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2006
Mutations in the FGF14 gene are not a major cause of spinocerebellar ataxia in Caucasians.
Stevanin G et al.
Neurology, 2004
Fibroblast growth factor (FGF) homologous factors share structural but not functional homology with FGFs.
Olsen SK et al.
The Journal of Biological Chemistry, 2003
A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected].
van Swieten JC et al.
American Journal of Human Genetics, 2003
[Cerebellar ataxia with autosomal dominant transmission].
Dürr A et al.
Revue Neurologique, 1994