Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype study - Wikidata - wikimedia - TriplyDB

Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype study

Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype study

http://www.wikidata.org/entity/Q33929425

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Machado-Joseph Disease: from first descriptions to new perspectives.Silencing mutant ataxin-3 rescues motor deficits and neuropathology in Machado-Joseph disease transgenic mice 'Costa da Morte' ataxia is spinocerebellar ataxia 36: clinical and genetic characterization.Allele-specific RNA silencing of mutant ataxin-3 mediates neuroprotection in a rat model of Machado-Joseph disease.Huntington's disease: silencing a brutal killer.Oligonucleotide-based strategies to combat polyglutamine diseases.An evaluation of oligonucleotide-based therapeutic strategies for polyQ diseases Machado-Joseph disease in a Nigerian family: mutational origin and review of the literature Allele-specific silencing of dominant disease genes.Toward understanding Machado-Joseph disease Ancestry of the Brazilian TP53 c.1010G>A (p.Arg337His, R337H) Founder Mutation: Clues from Haplotyping of Short Tandem Repeats on Chromosome 17p.Allele-specific RNA interference for neurological disease.Machado-Joseph disease/spinocerebellar ataxia type 3.Fibroblasts of Machado Joseph Disease patients reveal autophagy impairment.Genetic counseling and presymptomatic testing programs for Machado-Joseph Disease: lessons from Brazil and Portugal.Ataxin-3 protein and RNA toxicity in spinocerebellar ataxia type 3: current insights and emerging therapeutic strategies.Silencing ataxin-3 mitigates degeneration in a rat model of Machado-Joseph disease: no role for wild-type ataxin-3?Spinocerebellar ataxias in Venezuela: genetic epidemiology and their most likely ethnic descent.Antisense Oligonucleotide-Mediated Removal of the Polyglutamine Repeat in Spinocerebellar Ataxia Type 3 Mice Influence of mismatched and bulged nucleotides on SNP-preferential RNase H cleavage of RNA-antisense gapmer heteroduplexes.Ethnic differences in the expression of neurodegenerative disease: Machado-Joseph disease in Africans and Caucasians.Haplotype study in Dutch SCA3 and SCA6 families: evidence for common founder mutations.Absence of spinocerebellar ataxia type 3/Machado-Joseph disease within ataxic patients in the Czech population.Spinocerebellar ataxias: microsatellite and allele frequency in unaffected and affected individuals.A multistep mutation mechanism drives the evolution of the CAG repeat at MJD/SCA3 locus Machado-Joseph Disease Enhances Genetic Fitness: A Comparison Between Affected and Unaffected Women and Between MJD and the General Population Origin and age of the causative mutations in KLC2, IMPA1, MED25 and WNT7A unravelled through Brazilian admixed populations

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Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype study

http://www.wikidata.org/entity/Q33929425

description

2000 nî lūn-bûn

@nan

2000 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2000 թվականի դեկտեմբերին հրատարակված գիտական հոդված

@hy

2000年の論文

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2000年論文

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2000年論文

@zh-hant

2000年論文

@zh-hk

2000年論文

@zh-mo

2000年論文

@zh-tw

2000年论文

@wuu

name

Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype study

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Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype study

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type

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Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype study

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Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype study

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Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype study

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Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype study

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American Journal of Human Genetics

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Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype study

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B W Soong

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C Gaspar

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J J Higgins

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P2860

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

Machado-Joseph disease gene products carrying different carboxyl termini

Machado disease. A hereditary ataxia in Portuguese emigrants to Massachusetts

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

A comparison of linkage disequilibrium measures for fine-scale mapping.

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

Spinocerebellar ataxia type 1 and Machado-Joseph disease: incidence of CAG expansions among adult-onset ataxia patients from 311 families with dominant, recessive, or sporadic ataxia.

Machado-Joseph disease mutations as the genetic basis of most spinocerebellar ataxias in Germany

Epidemiology and clinical aspects of Machado-Joseph disease.

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.

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10.1086/318184

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2

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68

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Patricia Maciel

Martin Lauritzen

Giovanni Stevanin

Iscia Lopes-Cendes

Isabel Silveira

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2000-12-20T00:00:00Z

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