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Article

Analysis of segregation patterns in Machado-Joseph disease pedigrees.

Journal of human genetics - 1 Jan 2008

Bettencourt Conceição, Santos Cristina, Kay Teresa, Vasconcelos João, Lima Manuela

Abstract excerpt

Machado-Joseph disease (MJD), also known as spinocerebellar ataxia type 3 (SCA3), is an autosomal dominant neurodegenerative disorder of late onset, which is considered the most common form of SCA worldwide. The main goal of this study was to investigate the presence of segregation ratio distortion (SRD) during transmissions of ATXN3 alleles by MJD patients, evaluating the putative role of SRD in the...

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Source

Identifiers

PMID: 18688568
DOI: 10.1007/s10038-008-0330-y

Genes

ATXN3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Analysis of segregation patterns in Machado-Joseph disease pedigrees.PMID 18688568Read ↗

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Segregation distortion of wild-type alleles at the Machado-Joseph disease locus: a study in normal families from the Azores islands (Portugal).Semantic proximity Read ↗

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

Machado Joseph disease: clinical and genetic aspects, and current treatmentSemantic proximity Read ↗

Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph disease.Semantic proximity Read ↗

Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph diseaseSemantic proximity Read ↗

Mendelian segregation of normal CAG trinucleotide repeat alleles at three autosomal loci.Semantic proximity Read ↗

The role of apolipoprotein E as a risk factor for an earlier age at onset for Machado-Joseph disease is doubtful.Semantic proximity Read ↗

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Spinocerebellar ataxia 3 and Machado-Joseph disease: clinical, molecular, and neuropathological features.Semantic proximity Read ↗

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