Molecular and clinical correlations in spinocerebellar ataxia 2: a study of 32 families.
about
Parkinson's disease: from monogenic forms to genetic susceptibility factorsCloning of human Ca2+ homoeostasis endoplasmic reticulum protein (CHERP): regulated expression of antisense cDNA depletes CHERP, inhibits intracellular Ca2+ mobilization and decreases cell proliferationTreatment for dysphagia (swallowing difficulties) in hereditary ataxiaCloning of the SCA7 gene reveals a highly unstable CAG repeat expansionMapping of spinocerebellar ataxia 13 to chromosome 19q13.3-q13.4 in a family with autosomal dominant cerebellar ataxia and mental retardationEvolutionary conservation and expression of human RNA-binding proteins and their role in human genetic diseaseParkinsonism in spinocerebellar ataxiaPolyQ repeat expansions in ATXN2 associated with ALS are CAA interrupted repeatsAnalysis of spinocerebellar ataxia types 1, 2, 3, and 6, dentatorubral-pallidoluysian atrophy, and Friedreich's ataxia genes in spinocerebellar ataxia patients in the UK.Genetic analysis of age at onset variation in spinocerebellar ataxia type 2.Contribution of ATXN2 intermediary polyQ expansions in a spectrum of neurodegenerative disordersBrain pathology of spinocerebellar ataxias.Clinical analysis of adult-onset spinocerebellar ataxias in Thailand.Anatomically based guidelines for systematic investigation of the central somatosensory system and their application to a spinocerebellar ataxia type 2 (SCA2) patient.Unexpanded and intermediate CAG polymorphisms at the SCA2 locus (ATXN2) in the Cuban population: evidence about the origin of expanded SCA2 alleles.In Vitro Expansion of CAG, CAA, and Mixed CAG/CAA RepeatsCervical dystonia in spinocerebellar ataxia type 2: clinical and polymyographic findingsThe functional neuroanatomy of dystonia.ATNX2 is not a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72 GGGGCC expansion.Germ-line CAG repeat instability causes extreme CAG repeat expansion with infantile-onset spinocerebellar ataxia type 2.Spinocerebellar ataxia type 2 presenting with cognitive regression in childhood.ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry.Movement disorders in spinocerebellar ataxias.A comprehensive review of spinocerebellar ataxia type 2 in Cuba.Genetic and epigenetic studies of amyotrophic lateral sclerosis.Polyglutamine (PolyQ) diseases: genetics to treatments.Spinocerebellar ataxia type 2 is associated with Parkinsonism and Lewy body pathology.NESSCA Validation and Responsiveness of Several Rating Scales in Spinocerebellar Ataxia Type 2.Current Opinions and Areas of Consensus on the Role of the Cerebellum in Dystonia.Spinocerebellar ataxia type 2: polyQ repeat variation in the CACNA1A calcium channel modifies age of onset.The Multiple Faces of Spinocerebellar Ataxia type 2.Eye movement abnormalities correlate with genotype in autosomal dominant cerebellar ataxia type I.Large pathogenic expansions in the SCA2 and SCA7 genes can be detected by fluorescent repeat-primed polymerase chain reaction assay.Familial dyskinesia and facial myokymia (FDFM): Follow-up of a large family and linkage to chromosome 3p21-3q21.Nucleation of protein aggregation kinetics as a basis for genotype-phenotype correlations in polyglutamine diseases.Dopa-responsive parkinsonism phenotype of spinocerebellar ataxia type 2.Reduced striatal [123 I]FP-CIT binding in SCA2 patients without parkinsonism.Abnormalities of dopaminergic neurotransmission in SCA2: a combined 123I-betaCIT and 123I-IBZM SPECT study.Autosomal dominant cerebellar ataxias in Spain: molecular and clinical correlations, prevalence estimation and survival analysis.Positron emission tomography and magnetic resonance imaging in spinocerebellar ataxia type 2: a study of symptomatic and asymptomatic individuals.
P2860
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P2860
Molecular and clinical correlations in spinocerebellar ataxia 2: a study of 32 families.
description
1997 nî lūn-bûn
@nan
1997年の論文
@ja
1997年学术文章
@wuu
1997年学术文章
@zh
1997年学术文章
@zh-cn
1997年学术文章
@zh-hans
1997年学术文章
@zh-my
1997年学术文章
@zh-sg
1997年學術文章
@yue
1997年學術文章
@zh-hant
name
Molecular and clinical correlations in spinocerebellar ataxia 2: a study of 32 families.
@en
Molecular and clinical correlations in spinocerebellar ataxia 2: a study of 32 families.
@nl
type
label
Molecular and clinical correlations in spinocerebellar ataxia 2: a study of 32 families.
@en
Molecular and clinical correlations in spinocerebellar ataxia 2: a study of 32 families.
@nl
prefLabel
Molecular and clinical correlations in spinocerebellar ataxia 2: a study of 32 families.
@en
Molecular and clinical correlations in spinocerebellar ataxia 2: a study of 32 families.
@nl
P2093
P50
P356
P1476
Molecular and clinical correlations in spinocerebellar ataxia 2: a study of 32 families.
@en
P2093
Abada-Bendib M
Chneiweiss H
Didierjean O
Guimarães J
P304
P356
10.1093/HMG/6.5.709
P577
1997-05-01T00:00:00Z