About: Dentatorubral-pallidoluysian atrophy: clinical features are closely related to unstable expansions of trinucleotide (CAG) repeat

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About: Dentatorubral-pallidoluysian atrophy: clinical features are closely related to unstable expansions of trinucleotide (CAG) repeat Goto Sponge NotDistinct Permalink

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scientific article published on 01 June 1995

Attributes	Values
rdf:type	Item
description	wetenschappelijk artikel (nl) наукова стаття, опублікована в червні 1995 (uk) article scientifique publié en 1995 (fr) im Juni 1995 veröffentlichter wissenschaftlicher Artikel (de) artículu científicu espublizáu en xunu de 1995 (ast) scientific article published on 01 June 1995 (en)
publication date	wds:Q72307208-7BCA87EA-6FD2-4AE1-9F48-D4CB311B2B75
publication date	1995-06-01 00:00:00Z (xsd:dateTime)
author name string	wds:Q72307208-37ABBF1C-8142-4B51-AC18-FCA8EFC1CA28 wds:Q72307208-86798BBF-7A3B-4DB0-9376-B48A07D69126 wds:Q72307208-893B8021-3879-4539-A103-443FC5198B12 wds:Q72307208-935EDA26-4140-4F85-9CB3-493980C86D3B wds:Q72307208-9ECADCAD-D651-41AE-AE0B-803173438D65 wds:Q72307208-AED5352D-0AE0-4E75-85D7-1D1D35F13B26 wds:Q72307208-B6A2F3FB-1565-43A9-AEC1-60AF91C4C0B7 wds:Q72307208-BBB644AA-9349-48A0-BABA-78FFBA726665 wds:Q72307208-CA7CB62F-4ABE-402D-AF1B-8B7DEF81BC61 wds:Q72307208-ED691865-248B-4C84-8EA8-469D4C380C98
author name string	Tanaka H Takahashi H Miike T Igarashi S Ikeuchi T Koide R Onodera O Ishikawa A Tomoda A Kondo R
rdfs:label	Dentatorubral-pallidoluysian atrophy: clinical features are closely related to unstable expansions of trinucleotide (nl) Dentatorubral-pallidoluysian atrophy: clinical features are closely related to unstable expansions of trinucleotide (CAG) repeat (en)
skos:prefLabel	Dentatorubral-pallidoluysian atrophy: clinical features are closely related to unstable expansions of trinucleotide (nl) Dentatorubral-pallidoluysian atrophy: clinical features are closely related to unstable expansions of trinucleotide (CAG) repeat (en)
name	Dentatorubral-pallidoluysian atrophy: clinical features are closely related to unstable expansions of trinucleotide (nl) Dentatorubral-pallidoluysian atrophy: clinical features are closely related to unstable expansions of trinucleotide (CAG) repeat (en)
title	wds:Q72307208-D63F4CFD-1D3B-4D59-8259-3343D3A79925
title	Dentatorubral-pallidoluysian atrophy: clinical features are closely related to unstable expansions of trinucleotide (CAG) repeat (en)
page(s)	wds:Q72307208-56356FED-E1BA-457F-AB40-71A4E58DC60C
page(s)	769-775
instance of	wds:Q72307208-1B81A22F-BBE4-4B18-B04C-E92BEB325A56
instance of	scholarly article
main subject	wds:Q72307208-D9736F84-CD35-4BE8-A307-EFB1ACEA39CC
main subject	dentatorubral-pallidoluysian atrophy
PubMed ID	wds:Q72307208-FCE89828-1055-4A58-BF91-9A4EF3CC6724
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/7778850
PubMed ID	7778850
published in	wds:Q72307208-5F490E34-B808-4A90-93B5-DBE3A3479EAC
published in	Annals of Neurology
issue	wds:Q72307208-68DE5F59-BE2C-422D-852D-4BE226FBBB03
volume	wds:Q72307208-AE74E51C-C837-4E81-95E1-E378C58B7EC3
issue	6
volume	37
DOI	wds:Q72307208-9C5A3D03-80C0-4EAC-BE5B-C9371AE5A91C
DOI	http://dx.doi.org/10.1002/ANA.410370610
DOI	10.1002/ANA.410370610
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q72307208
is cites work of	Relations between genotype and phenotype in German patients with the Machado-Joseph disease mutation Atrophin-1, the DRPLA gene product, interacts with two families of WW domain-containing proteins Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats Non-Mendelian transmission in dentatorubral-pallidoluysian atrophy and Machado-Joseph disease: the mutant allele is preferentially transmitted in male meiosis Suppression of aggregate formation and apoptosis by transglutaminase inhibitors in cells expressing truncated DRPLA protein with an expanded polyglutamine stretch. Nucleation of protein aggregation kinetics as a basis for genotype-phenotype correlations in polyglutamine diseases. Atypical movement disorders in the early stages of Huntington's disease: clinical and genetic analysis Molecular pathology of dentatorubral-pallidoluysian atrophy Consensus paper: pathological mechanisms underlying neurodegeneration in spinocerebellar ataxias Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond Nuclear accumulation of truncated atrophin-1 fragments in a transgenic mouse model of DRPLA. Severe neurological phenotypes of Q129 DRPLA transgenic mice serendipitously created by en masse expansion of CAG repeats in Q76 DRPLA mice. Autosomal dominant cerebellar ataxia type I: a review of the phenotypic and genotypic characteristics Somatic mosaicism of expanded CAG repeats in brains of patients with dentatorubral-pallidoluysian atrophy: cellular population-dependent dynamics of mitotic instability CAG repeat length and disease duration in Machado-Joseph disease: a new clinical classification. Hereditary causes of chorea in childhood Molecular cloning of a full-length cDNA for dentatorubral-pallidoluysian atrophy and regional expressions of the expanded alleles in the CNS The first identified French family with dentatorubral-pallidoluysian atrophy. Onset and pre-onset studies to define the Huntington's disease natural history. Hereditary Cerebellar Ataxias: A Korean Perspective. Studying polyglutamine diseases in Drosophila. A Japanese family with spinocerebellar ataxia type 6 which includes three individuals homozygous for an expanded CAG repeat in the SCA6/CACNL1A4 gene. Importance of CAG repeat length in childhood-onset dentatorubral-pallidoluysian atrophy Successful Treatment with Olanzapine of Psychosis in Dentatorubral-pallidoluysian Atrophy: A Case Report. Sleep Related Problems as a Nonmotor Symptom of Dentatorubropallidoluysian Atrophy. Deregulation of RNA Metabolism in Microsatellite Expansion Diseases Spinocerebellar ataxia Neuropathology of movement disorders. Maternal anticipation in Machado-Joseph disease (MJD): some maternal factors independent of the number of CAG repeat units may play a role in genetic anticipation in a Japanese MJD family Reevaluation of the exact CAG repeat length in hereditary cerebellar ataxias using highly denaturing conditions and long PCR Clinical and magnetic resonance imaging features of elderly onset dentatorubral-pallidoluysian atrophy. Is cerebral white matter involvement helpful in the diagnosis of dentatorubral-pallidoluysian atrophy? Differential diagnosis of Parkinson's disease Case report of optic atrophy in Dentatorubropallidoluysian Atrophy (DRPLA). Glyceraldehyde 3‐phosphate dehydrogenase and endothelin‐1 immunoreactivity is associated with cerebral white matter damage in dentatorubral–pallidoluysian atrophy The relationship between (CAG)n repeat number and age of onset in a family with dentatorubral-pallidoluysian atrophy (DRPLA): diagnostic implications of confirmatory and predictive testing Selective colocalization of transglutaminase-like activity in ubiquitinated intranuclear inclusions of hereditary dentatorubral-pallidoluysian atrophy. Uncloned expanded CAG/CTG repeat sequences in autosomal dominant cerebellar ataxia (ADCA) detected by the repeat expansion detection (RED) method Abundance of ethnically biased microsatellites in human gene regions Hypoalbuminemia in early onset dentatorubral-pallidoluysian atrophy due to leakage of albumin in multiple organs A case of late adult-onset dentatorubral-pallidoluysian atrophy mimicking central pontine myelinolysis. A pediatric patient with sporadic dentatorubral pallidoluysian atrophy Eye of the Tiger Sign and Very Late Onset in Dentatorubral-Pallidoluysian Atrophy
is cites work of	wds:Q37619548-CE10B930-B71A-4F9C-8A01-05D330A59D3D

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