Mapping of spinocerebellar ataxia 13 to chromosome 19q13.3-q13.4 in a family with autosomal dominant cerebellar ataxia and mental retardation
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Autosomal dominant cerebellar ataxia type I: a review of the phenotypic and genotypic characteristicsSpinocerebellar ataxia-13 Kv3.3 potassium channels: arginine-to-histidine mutations affect both functional and protein expression on the cell surfaceFrequency of KCNC3 DNA variants as causes of spinocerebellar ataxia 13 (SCA13)Functional analysis helps to define KCNC3 mutational spectrum in Dutch ataxia casesKCNC3: phenotype, mutations, channel biophysics-a study of 260 familial ataxia patientsDecreased temporal precision of neuronal signaling as a candidate mechanism of auditory processing disorderMutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypesA KCNC3 mutation causes a neurodevelopmental, non-progressive SCA13 subtype associated with dominant negative effects and aberrant EGFR trafficking.Functional effects of spinocerebellar ataxia type 13 mutations are conserved in zebrafish Kv3.3 channelsDendritic Kv3.3 potassium channels in cerebellar purkinje cells regulate generation and spatial dynamics of dendritic Ca2+ spikes.Brain pathology of spinocerebellar ataxias.Spinocerebellar ataxia associated with a mutation in the fibroblast growth factor 14 gene (SCA27): A new phenotype.Mutation in the kv3.3 voltage-gated potassium channel causing spinocerebellar ataxia 13 disrupts sound-localization mechanisms.State of the art review: molecular diagnosis of inherited movement disorders. Movement Disorders Society task force on molecular diagnosis.Recent advances in hereditary spinocerebellar ataxias.Spinocerebellar ataxia type 13 mutation that is associated with disease onset in infancy disrupts axonal pathfinding during neuronal development.Targeted next generation sequencing identifies novel NOTCH3 gene mutations in CADASIL diagnostics patients.Consensus paper: pathological mechanisms underlying neurodegeneration in spinocerebellar ataxias.Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K+ channel properties.Childhood-onset ataxia: testing for large CAG-repeats in SCA2 and SCA7.Clinical and genetic analysis of four Mexican families with spinocerebellar ataxia type 10.Deletion of chromosome 12q21 affecting KCNC2 and ATXN7L3B in a family with neurodevelopmental delay and ataxia.Haplotype study in Dutch SCA3 and SCA6 families: evidence for common founder mutations.Breakpoint mapping and haplotype analysis of translocation t(1;12)(q43;q21.1) in two apparently independent families with vascular phenotypes.Altered Kv3.3 channel gating in early-onset spinocerebellar ataxia type 13.A new locus for spinocerebellar ataxia (SCA21) maps to chromosome 7p21.3-p15.1
P2860
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P2860
Mapping of spinocerebellar ataxia 13 to chromosome 19q13.3-q13.4 in a family with autosomal dominant cerebellar ataxia and mental retardation
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2000年の論文
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Mapping of spinocerebellar ata ...... ataxia and mental retardation
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Mapping of spinocerebellar ata ...... ataxia and mental retardation
@en
Mapping of spinocerebellar ata ...... ataxia and mental retardation
@nl
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label
Mapping of spinocerebellar ata ...... ataxia and mental retardation
@ast
Mapping of spinocerebellar ata ...... ataxia and mental retardation
@en
Mapping of spinocerebellar ata ...... ataxia and mental retardation
@nl
prefLabel
Mapping of spinocerebellar ata ...... ataxia and mental retardation
@ast
Mapping of spinocerebellar ata ...... ataxia and mental retardation
@en
Mapping of spinocerebellar ata ...... ataxia and mental retardation
@nl
P2093
P2860
P356
P1476
Mapping of spinocerebellar ata ...... ataxia and mental retardation
@en
P2093
Herman-Bert A
Schalling M
Stevanin G
P2860
P304
P356
10.1086/302958
P407
P577
2000-05-11T00:00:00Z