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Academic Journal

Re-establishing ataxin-2 downregulates translation of mutant ataxin-3 and alleviates Machado-Joseph disease.

Subjects: ATAXIN; DOWNREGULATION; GENETIC translation

  • Source: Brain: A Journal of Neurology; 12/1/2015, Vol. 138 Issue 12, p3537-3554, 18p

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Machado-Joseph disease in a Nigerian family: mutational origin and review of the literature.

Subjects: *AFRICANS; *GENETIC mutation; *HAPLOTYPESAFRICA

  • Source: European Journal of Human Genetics. Feb2015, Vol. 23 Issue 2, p271-273. 3p.

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Academic Journal

Improvement in the Molecular Diagnosis of Machado-Joseph Disease.

Subjects: FRIEDREICH'S ataxia; GENETIC mutation; ALLELES

  • Source: Archives of Neurology; Nov2001, Vol. 58 Issue 11, p1821, 7p

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Academic Journal

Relations between genotype and phenotype in German patients with the Machado-Joseph disease mutation.

Subjects: AGE factors in disease; ATAXIA; CEREBELLUM diseasesGERMANY

  • Source: Journal of Neurology, Neurosurgery & Psychiatry; Nov1996, Vol. 61 Issue 5, p466-470, 5p, 1 Diagram, 2 Charts, 1 Graph

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A survey of spinocerebellar ataxia in South Brazil – 66 new cases with Machado-Joseph disease, SCA7, SCA8, or unidentified disease–causing mutations.

Subjects: NEURODEGENERATION; ATAXIA; CEREBELLAR ataxiaSOUTH Brazil

  • Source: Journal of Neurology; Oct2001, Vol. 248 Issue 10, p870-876, 7p

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Academic Journal

Analysis of trinucleotide repeats in different SCA loci in spinocerebellar ataxia patients and in normal population of Taiwan.

Subjects: TRINUCLEOTIDE repeats; CEREBELLAR ataxia; POLYMERASE chain reactionTAIWAN

  • Source: Acta Neurologica Scandinavica. May2004, Vol. 109 Issue 5, p355-360. 6p.

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Academic Journal

Population Genetics of Wild-Type CAG Repeats in the Machado-Joseph Disease Gene in Portugal.

Subjects: POPULATION genetics; GENETIC mutation; TRINUCLEOTIDE repeatsPORTUGAL

  • Source: Human Heredity; 2005, Vol. 60 Issue 3, p156-163, 8p, 1 Chart, 1 Map

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Academic Journal

A multistep mutation mechanism drives the evolution of the CAG repeat at MJD/SCA3 locus.

Subjects: GENETIC mutation; MICROSATELLITE repeats; TRINUCLEOTIDE repeats

  • Source: European Journal of Human Genetics. Aug2006, Vol. 14 Issue 8, p932-940. 9p. 2 Charts, 4 Graphs.

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Academic Journal

Frequencies of spinocerebellar ataxia subtypes in Thailand: window to the population history?

Subjects: FRIEDREICH'S ataxia; DISEASES & society; POPULATION healthTHAILAND

  • Source: Journal of Human Genetics. May2009, Vol. 54 Issue 5, p284-288. 5p. 2 Charts, 1 Graph.

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Academic Journal

Ancestral Origins of the Machado-Joseph Disease Mutation: A Worldwide Haplotype Study.

Subjects: NEURODEGENERATION; GENETIC mutation

  • Source: American Journal of Human Genetics. Feb2001, Vol. 68 Issue 2, p523-528. 6p. 1 Graph.

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  • 1-10 of  189 results for ""Machado-Joseph Disease""