Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype study
about
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 diseasesMachado-Joseph disease in a Nigerian family: mutational origin and review of the literatureAllele-specific silencing of dominant disease genes.Toward understanding Machado-Joseph diseaseAncestry 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 MiceInfluence 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 locusMachado-Joseph Disease Enhances Genetic Fitness: A Comparison Between Affected and Unaffected Women and Between MJD and the General PopulationOrigin and age of the causative mutations in KLC2, IMPA1, MED25 and WNT7A unravelled through Brazilian admixed populations
P2860
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P2860
Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype study
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2000 nî lūn-bûn
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2000 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
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2000 թվականի դեկտեմբերին հրատարակված գիտական հոդված
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2000年の論文
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2000年論文
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2000年論文
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2000年論文
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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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type
label
Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype study
@ast
Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype study
@en
prefLabel
Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype study
@ast
Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype study
@en
P2093
P2860
P50
P356
P1476
Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype study
@en
P2093
G A Nicholson
G A Rouleau
J J Higgins
J Sequeiros
P2860
P304
P356
10.1086/318184
P407
P50
P577
2000-12-20T00:00:00Z