Clinical features and classification of inherited ataxias.
about
Mapping of spinocerebellar ataxia 13 to chromosome 19q13.3-q13.4 in a family with autosomal dominant cerebellar ataxia and mental retardationOverexpression of human and fly frataxins in Drosophila provokes deleterious effects at biochemical, physiological and developmental levelsSpinocerebellar ataxia type 36 in the Han ChineseCerebellar pathology in Friedreich's ataxia: atrophied dentate nuclei with normal iron content.Episodic Ataxia Type 2 due to a Deletion Mutation in the CACNA1A Gene in a Korean Family.Machado Joseph disease maps to the same region of chromosome 14 as the spinocerebellar ataxia type 3 locus.Fear conditioned potentiation of the acoustic blink reflex in patients with cerebellar lesionsAutosomal recessive cerebellar ataxias.High frequency of Machado-Joseph disease identified in southeastern Chinese kindreds with spinocerebellar ataxia.Characterisation of the unstable expanded CAG repeat in the MJD1 gene in four Brazilian families of Portuguese descent with Machado-Joseph diseaseSequencing analysis of the ITPR1 gene in a pure autosomal dominant spinocerebellar ataxia seriesMutations in KCND3 cause spinocerebellar ataxia type 22.Autosomal dominant cerebellar ataxia type III: linkage in a large British family to a 7.6-cM region on chromosome 15q14-21.3.Clinical manifestations and gene mutation in a case of Machado-Joseph disease.CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592Location score and haplotype analyses of the locus for autosomal recessive spastic ataxia of Charlevoix-Saguenay, in chromosome region 13q11.Molecular and clinical study of 18 families with ADCA type II: evidence for genetic heterogeneity and de novo mutationSmall molecules affecting transcription in Friedreich ataxiaMarked phenotypic heterogeneity associated with expansion of a CAG repeat sequence at the spinocerebellar ataxia 3/Machado-Joseph disease locus.First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsyThe gene for autosomal dominant cerebellar ataxia type II is located in a 5-cM region in 3p12-p13: genetic and physical mapping of the SCA7 locus.A third locus for autosomal dominant cerebellar ataxia type I maps to chromosome 14q24.3-qter: evidence for the existence of a fourth locusPositron emission tomography in asymptomatic gene carriers of Machado-Joseph disease.Clinical Characteristics, Radiological Features and Gene Mutation in 10 Chinese Families with Spinocerebellar Ataxias.A locus for autosomal dominant hereditary spastic ataxia, SAX1, maps to chromosome 12p13Invited review: decoding the pathophysiological mechanisms that underlie RNA dysregulation in neurodegenerative disorders: a review of the current state of the art.Congenital cerebellar ataxia, mental retardation, and atrophic retinal lesions in two brothersUncloned expanded CAG/CTG repeat sequences in autosomal dominant cerebellar ataxia (ADCA) detected by the repeat expansion detection (RED) method.Differential degradation of full-length and cleaved ataxin-7 fragments in a novel stable inducible SCA7 modelEstablishment of a molecular diagnostic system for spinal muscular atrophy experience from a clinical laboratory in china.Clinical and genetic evaluation of Japanese autosomal dominant cerebellar ataxias; is Machado-Joseph disease common in the Japanese?Linkage disequilibrium at the Machado-Joseph disease/spinal cerebellar ataxia 3 locus: evidence for a common founder effect in French and Portuguese-Brazilian families as well as a second ancestral Portuguese-Azorean mutation.Linkage disequilibrium between the spinocerebellar ataxia 3/Machado-Joseph disease mutation and two intragenic polymorphisms, one of which, X359Y, affects the stop codon.Lipid Involvement in Neurodegenerative Diseases of the Motor System: Insights from Lysosomal Storage Diseases.Current molecular insight to reveal the dynamics of CAG repeating units in spinocerebellar ataxia.Drosophila melanogaster Models of Friedreich's Ataxia.Longitudinal analysis of contrast acuity in Friedreich ataxia
P2860
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P2860
Clinical features and classification of inherited ataxias.
description
1993 nî lūn-bûn
@nan
1993 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1993 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1993年の論文
@ja
1993年論文
@yue
1993年論文
@zh-hant
1993年論文
@zh-hk
1993年論文
@zh-mo
1993年論文
@zh-tw
1993年论文
@wuu
name
Clinical features and classification of inherited ataxias.
@ast
Clinical features and classification of inherited ataxias.
@en
Clinical features and classification of inherited ataxias.
@nl
type
label
Clinical features and classification of inherited ataxias.
@ast
Clinical features and classification of inherited ataxias.
@en
Clinical features and classification of inherited ataxias.
@nl
prefLabel
Clinical features and classification of inherited ataxias.
@ast
Clinical features and classification of inherited ataxias.
@en
Clinical features and classification of inherited ataxias.
@nl
P1476
Clinical features and classification of inherited ataxias
@en
P2093
Harding AE
P577
1993-01-01T00:00:00Z