A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected]
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Autosomal dominant cerebellar ataxia type I: a review of the phenotypic and genotypic characteristicsFibroblast growth factor (FGF) homologous factors share structural but not functional homology with FGFsAn autosomal dominant cerebellar ataxia linked to chromosome 16q22.1 is associated with a single-nucleotide substitution in the 5' untranslated region of the gene encoding a protein with spectrin repeat and Rho guanine-nucleotide exchange-factor domFibroblast growth factor 14 is an intracellular modulator of voltage-gated sodium channelsImpaired spatial learning and defective theta burst induced LTP in mice lacking fibroblast growth factor 14Receptor specificity of the fibroblast growth factor family. The complete mammalian FGF familyCanine hereditary ataxia in old english sheepdogs and gordon setters is associated with a defect in the autophagy gene encoding RAB24Crystal Structure of a Fibroblast Growth Factor Homologous Factor (FHF) Defines a Conserved Surface on FHFs for Binding and Modulation of Voltage-gated Sodium ChannelsCrystal Structure of the Ternary Complex of a NaV C-Terminal Domain, a Fibroblast Growth Factor Homologous Factor, and CalmodulinModulation, Plasticity and Pathophysiology of the Parallel Fiber-Purkinje Cell Synapse.SCN5A variant that blocks fibroblast growth factor homologous factor regulation causes human arrhythmiaFibroblast growth factor homologous factor 13 regulates Na+ channels and conduction velocity in murine heartsGain-of-function FHF1 mutation causes early-onset epileptic encephalopathy with cerebellar atrophyIntegrative biological analysis for neuropsychopharmacologyFGF14 regulates presynaptic Ca2+ channels and synaptic transmissionFibroblast growth factor homologous factors control neuronal excitability through modulation of voltage-gated sodium channels.Therapeutic prospects for spinocerebellar ataxia type 2 and 3.Genes and biological processes commonly disrupted in rare and heterogeneous developmental delay syndromes.Intracellular Fibroblast Growth Factor 14: Emerging Risk Factor for Brain Disorders.FGF14 N-terminal splice variants differentially modulate Nav1.2 and Nav1.6-encoded sodium channels.Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxiaRole of the axonal initial segment in psychiatric disorders: function, dysfunction, and interventionBrain pathology of spinocerebellar ataxias.Mutation analysis in the fibroblast growth factor 14 gene: frameshift mutation and polymorphisms in patients with inherited ataxias.Spinocerebellar ataxia associated with a mutation in the fibroblast growth factor 14 gene (SCA27): A new phenotype.The Fibroblast Growth Factor signaling pathwayThe fibroblast growth factor 14·voltage-gated sodium channel complex is a new target of glycogen synthase kinase 3 (GSK3).Fibroblast growth factors: from molecular evolution to roles in development, metabolism and disease.Identification of novel interaction sites that determine specificity between fibroblast growth factor homologous factors and voltage-gated sodium channels.FGF14 modulates resurgent sodium current in mouse cerebellar Purkinje neuronsDual transgene expression in murine cerebellar Purkinje neurons by viral transduction in vivoIntracellular FGF14 (iFGF14) Is Required for Spontaneous and Evoked Firing in Cerebellar Purkinje Neurons and for Motor Coordination and BalanceMethylation of multiple genes in gastric glands with intestinal metaplasia: A disorder with polyclonal origins.Bioluminescence methodology for the detection of protein-protein interactions within the voltage-gated sodium channel macromolecular complexFibroblast Growth Factor Homologous Factors: New Roles in Neuronal Health and Disease.Recent advances in hereditary spinocerebellar ataxias.Fibroblast growth factor homologous factors: evolution, structure, and function.A conserved eEF2 coding variant in SCA26 leads to loss of translational fidelity and increased susceptibility to proteostatic insultMicroarray Analyses Reveal Marked Differences in Growth Factor and Receptor Expression Between 8-Cell Human Embryos and Pluripotent Stem CellsOn autosomal dominant cerebellar ataxia (ADCA) other than polyglutamine diseases, with special reference to chromosome 16q22.1-linked ADCA.
P2860
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P2860
A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected]
description
2003 nî lūn-bûn
@nan
2003 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
A mutation in the fibroblast g ...... cerebellar ataxia [corrected]
@ast
A mutation in the fibroblast g ...... cerebellar ataxia [corrected]
@en
A mutation in the fibroblast g ...... cerebellar ataxia [corrected]
@nl
type
label
A mutation in the fibroblast g ...... cerebellar ataxia [corrected]
@ast
A mutation in the fibroblast g ...... cerebellar ataxia [corrected]
@en
A mutation in the fibroblast g ...... cerebellar ataxia [corrected]
@nl
prefLabel
A mutation in the fibroblast g ...... cerebellar ataxia [corrected]
@ast
A mutation in the fibroblast g ...... cerebellar ataxia [corrected]
@en
A mutation in the fibroblast g ...... cerebellar ataxia [corrected]
@nl
P2093
P2860
P3181
P356
P1476
A mutation in the fibroblast g ...... cerebellar ataxia [corrected]
@en
P2093
Anneke Maat-Kievit
Ben A Oostra
Bianca M de Graaf
Dennis Dooijes
Elmar Krieger
Esther Brusse
Inge de Koning
Peter Leegwater
Raoul van de Graaf
P2860
P3181
P356
10.1086/345488
P407
P577
2003-01-01T00:00:00Z