Correlation between CAG repeat length and clinical features in Machado-Joseph disease - Wikidata - wikimedia - TriplyDB

Correlation between CAG repeat length and clinical features in Machado-Joseph disease

Correlation between CAG repeat length and clinical features in Machado-Joseph disease

http://www.wikidata.org/entity/Q35643559

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Machado-Joseph Disease: from first descriptions to new perspectives.Japanese families with autosomal dominant pure cerebellar ataxia map to chromosome 19p13.1-p13.2 and are strongly associated with mild CAG expansions in the spinocerebellar ataxia type 6 gene in chromosome 19p13.1 Patterns of motor signs in spinocerebellar ataxia type 3 at the start of follow-up in a reference unit.Investigation of the Josephin Domain protein-protein interaction by molecular dynamics Genotype-phenotype correlation in Chinese patients with spinal and bulbar muscular atrophy Therapeutic prospects for spinocerebellar ataxia type 2 and 3.Josephin Domain Structural Conformations Explored by Metadynamics in Essential Coordinates.Relations between genotype and phenotype in German patients with the Machado-Joseph disease mutation Hereditary spastic paraparesis: a review of new developments.High germinal instability of the (CTG)n at the SCA8 locus of both expanded and normal alleles Milestones in ataxia Consensus and controversies in best practices for molecular genetic testing of spinocerebellar ataxias.The role of apolipoprotein E as a risk factor for an earlier age at onset for Machado-Joseph disease is doubtful.Spinocerebellar ataxia type 3/Machado-Joseph disease manifested as spastic paraplegia: A clinical and genetic study Two novel SNPs in ATXN3 3' UTR may decrease age at onset of SCA3/MJD in Chinese patients.The natural history of spinocerebellar ataxia type 1, 2, 3, and 6: a 2-year follow-up study.The likelihood of being affected with Huntington disease by a particular age, for a specific CAG size The role of the immune system in triplet repeat expansion diseases Toward understanding Machado-Joseph disease A familial factor independent of CAG repeat length influences age at onset of Machado-Joseph disease.Alleviating neurodegeneration in Drosophila models of PolyQ diseases.Quantitative connection between polyglutamine aggregation kinetics and neurodegenerative process in patients with Huntington's disease.Autosomal dominant pure spastic paraplegia: a clinical, paraclinical, and genetic study.Psychological well-being and family satisfaction levels five years after being confirmed as a carrier of the Machado-Joseph disease mutation Mutation detection in Machado-Joseph disease using repeat expansion detection.Machado-Joseph disease/spinocerebellar ataxia type 3.Caloric restriction blocks neuropathology and motor deficits in Machado-Joseph disease mouse models through SIRT1 pathway.Fibroblasts of Machado Joseph Disease patients reveal autophagy impairment.CAG repeat length does not associate with the rate of cerebellar degeneration in spinocerebellar ataxia type 3.Thermodynamic and kinetic stability of the Josephin Domain closed arrangement: evidences from replica exchange molecular dynamics Consensus paper: pathological mechanisms underlying neurodegeneration in spinocerebellar ataxias.Ataxin-3 protein and RNA toxicity in spinocerebellar ataxia type 3: current insights and emerging therapeutic strategies.Large normal-range TBP and ATXN7 CAG repeat lengths are associated with increased lifetime risk of depression.Normal ATXN3 Allele but Not CHIP Polymorphisms Modulates Age at Onset in Machado-Joseph Disease.The genetic defect causing Huntington's disease: repeated in other contexts?The (CAG)n tract of Machado-Joseph Disease gene (ATXN3): a comparison between DNA and mRNA in patients and controls.Different origins of mutations at the Machado-Joseph locus (MJD1)The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ataxia.Nucleation of protein aggregation kinetics as a basis for genotype-phenotype correlations in polyglutamine diseases.

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P2860

Correlation between CAG repeat length and clinical features in Machado-Joseph disease

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Correlation between CAG repeat length and clinical features in Machado-Joseph disease

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Correlation between CAG repeat length and clinical features in Machado-Joseph disease

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Correlation between CAG repeat length and clinical features in Machado-Joseph disease

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Correlation between CAG repeat length and clinical features in Machado-Joseph disease

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Correlation between CAG repeat length and clinical features in Machado-Joseph disease

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American Journal of Human Genetics

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Correlation between CAG repeat length and clinical features in Machado-Joseph disease

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A L DeStefano

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C Gaspar

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D M Dawson

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I Silveira

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J E Loureiro

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J Guimarães

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J Radvany

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L Sudarsky

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P Coutinho

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P2860

CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1

Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)

The gene for Machado-Joseph disease maps to human chromosome 14q

The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease

Meiotic stability and genotype-phenotype correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy.

Trinucleotide repeat length instability and age of onset in Huntington's disease.

Autosomal dominant system degeneration in Portuguese families of the Azores Islands. A new genetic disorder involving cerebellar, pyramidal, extrapyramidal and spinal cord motor functions.

Myotonic dystrophy: size- and sex-dependent dynamics of CTG meiotic instability, and somatic mosaicism.

Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy.

Effect of trinucleotide repeat length and parental sex on phenotypic variation in spinocerebellar ataxia I.

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Patricia Maciel

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