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Article

Improvement in the molecular diagnosis of Machado-Joseph disease.

Archives of neurology - 1 Nov 2001

Maciel P, Costa M C, Ferro A, Rousseau M, Santos C S, Gaspar C, Barros J, Rouleau G A, Coutinho P, Sequeiros J

Abstract excerpt

BACKGROUND: Direct detection of the gene mutation allows for the confirmation of the clinical diagnosis of Machado-Joseph disease (MJD), the most frequent cause of autosomal dominant spinocerebellar ataxia worldwide. OBJECTIVE: To address the main difficulties in our national MJD predictive testing program. The first was the emergence of intermediate alleles, for which it is not yet possible to determine whether...

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PMID: 11708990
DOI: 10.1001/archneur.58.11.1821

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Improvement in the molecular diagnosis of Machado-Joseph disease.PMID 11708990Read ↗

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Machado-Joseph Disease: from first descriptions to new perspectives.Semantic proximity Read ↗

Machado-Joseph disease: correlation between the clinical features, the CAG repeat length and homozygosity for the mutation.Semantic proximity Read ↗

Study of three intragenic polymorphisms in the Machado-Joseph disease gene (MJD1) in relation to genetic instability of the (CAG)n tract.Semantic proximity Read ↗

Protocol for the Characterization of the Cytosine-Adenine-Guanine Tract and Flanking Polymorphisms in Machado-Joseph Disease: Impact on Diagnosis and Development of Gene-Based Therapies.Semantic proximity Read ↗

The shortest expanded allele of the MJD1 gene in a Chinese MJD kindred with autonomic dysfunction.Semantic proximity Read ↗

Analysis of CAG trinucleotide expansion associated with Machado-Joseph disease.Semantic proximity Read ↗

Founder haplotype for Machado-Joseph disease in the Indian population: novel insights from history and polymorphism studies.Semantic proximity Read ↗

Machado‐joseph disease: Clinical, molecular, and metabolic characterization in chinese kindredsSemantic proximity Read ↗

CAG repeat expansion of Machado-Joseph disease in the Japanese: analysis of the repeat instability for parental transmission, and correlation with disease phenotype.Semantic proximity Read ↗

Characterisation of the unstable expanded CAG repeat in the MJD1 gene in four Brazilian families of Portuguese descent with Machado-Joseph disease.Semantic proximity Read ↗

Machado-Joseph disease: cerebellar ataxia and autonomic dysfunction in a patient with the shortest known expanded allele (56 CAG repeat units) of the MJD1 gene.Semantic proximity Read ↗

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