Spinocerebellar ataxia type 2 with parkinsonism in ethnic Chinese.
about
Ataxin-2 and its Drosophila homolog, ATX2, physically assemble with polyribosomesParkin is an E3 ubiquitin-ligase for normal and mutant ataxin-2 and prevents ataxin-2-induced cell deathA mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected]Parkin mutation dosage and the phenomenon of anticipation: a molecular genetic study of familial parkinsonismCell biology of spinocerebellar ataxiaThe genetics and neuropathology of Parkinson's diseaseEvolutionary conservation and expression of human RNA-binding proteins and their role in human genetic diseaseGenetics of Parkinson's disease - a clinical perspectiveMotor Dysfunctions and Neuropathology in Mouse Models of Spinocerebellar Ataxia Type 2: A Comprehensive ReviewParkinsonism in spinocerebellar ataxiaPolyQ repeat expansions in ATXN2 associated with ALS are CAA interrupted repeatsProfile of families with parkinsonism-predominant spinocerebellar ataxia type 2 (SCA2).Analysis of Nigerians with apparently sporadic Parkinson disease for mutations in LRRK2, PRKN and ATXN3.Ataxin-2: From RNA Control to Human Health and DiseaseSCA2 and SCA3 mutations in young-onset dopa-responsive parkinsonism.Preclinical and clinical neural network changes in SCA2 parkinsonism.Genetic testing in spinocerebellar ataxia in Taiwan: expansions of trinucleotide repeats in SCA8 and SCA17 are associated with typical Parkinson's disease.ATXN2-CAG42 sequesters PABPC1 into insolubility and induces FBXW8 in cerebellum of old ataxic knock-in mice.Kufor Rakeb disease: autosomal recessive, levodopa-responsive parkinsonism with pyramidal degeneration, supranuclear gaze palsy, and dementia.Genetics of parkinsonism.Genetic neuropathology of Parkinson's disease.A family with Parkinsonism, essential tremor, restless legs syndrome, and depression.Both ubiquitin ligases FBXW8 and PARK2 are sequestrated into insolubility by ATXN2 PolyQ expansions, but only FBXW8 expression is dysregulated.Diagnostic considerations in juvenile parkinsonism.Psychotic-affective symptoms and multiple system atrophy expand phenotypes of spinocerebellar ataxia type 2.Rapid genetic diagnosis in single-gene movement disordersCervical dystonia in spinocerebellar ataxia type 2: clinical and polymyographic findingsPathology and genetics of multiple system atrophy: an approach to determining genetic susceptibility spectrum.Degenerative ataxias, from genes to therapies: The 2015 Cotzias Lecture.Spinocerebellar ataxia 2 (SCA2).Hereditary parkinsonism: Parkinson disease look-alikes--an algorithm for clinicians to "PARK" genes and beyond.Clinical and genetic analysis of the first known Asian family with myotonic dystrophy type 2.An autopsy case of an aged patient with spinocerebellar ataxia type 2.Movement disorders in spinocerebellar ataxias.Model organisms reveal insight into human neurodegenerative disease: ataxin-2 intermediate-length polyglutamine expansions are a risk factor for ALS.Spinocerebellar ataxia type 2 is associated with Parkinsonism and Lewy body pathology.RNA-binding proteins implicated in neurodegenerative diseases.Atxn2 Knockout and CAG42-Knock-in Cerebellum Shows Similarly Dysregulated Expression in Calcium Homeostasis Pathway.Modifications of resting state networks in spinocerebellar ataxia type 2.Ataxin-2 (Atxn2)-Knock-Out Mice Show Branched Chain Amino Acids and Fatty Acids Pathway Alterations.
P2860
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P2860
Spinocerebellar ataxia type 2 with parkinsonism in ethnic Chinese.
description
2000 nî lūn-bûn
@nan
2000年の論文
@ja
2000年学术文章
@wuu
2000年学术文章
@zh
2000年学术文章
@zh-cn
2000年学术文章
@zh-hans
2000年学术文章
@zh-my
2000年学术文章
@zh-sg
2000年學術文章
@yue
2000年學術文章
@zh-hant
name
Spinocerebellar ataxia type 2 with parkinsonism in ethnic Chinese.
@en
Spinocerebellar ataxia type 2 with parkinsonism in ethnic Chinese.
@nl
type
label
Spinocerebellar ataxia type 2 with parkinsonism in ethnic Chinese.
@en
Spinocerebellar ataxia type 2 with parkinsonism in ethnic Chinese.
@nl
prefLabel
Spinocerebellar ataxia type 2 with parkinsonism in ethnic Chinese.
@en
Spinocerebellar ataxia type 2 with parkinsonism in ethnic Chinese.
@nl
P2093
P356
P1433
P1476
Spinocerebellar ataxia type 2 with parkinsonism in ethnic Chinese.
@en
P2093
Koroshetz W
Singleton A
P304
P356
10.1212/WNL.55.6.800
P407
P577
2000-09-01T00:00:00Z