Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Origins and Spread of Machado-Joseph Disease Ancestral Mutations Events.

Advances in experimental medicine and biology - 1 Jan 2018

Martins Sandra, Sequeiros Jorge

Abstract excerpt

Machado-Joseph disease (MJD) is the most common autosomal dominant spinocerebellar ataxia reported worldwide, but it shows marked geographic differences in prevalence. The study of ancestral origins and spreading routes of MJD mutational events has contributed to explain such differences. During human evolution, at least two independent de novo MJD expansions occurred in distinct haplotype backgrounds: TTACAC and...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Alleles
Share to Evolution, Molecular
Share to Haplotypes

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Machado-Joseph Disease

Share to Mutation

Share to Phylogeny

Share to Polymorphism, Single Nucleotide

Source

Identifiers

PMID: 29427107
DOI: 10.1007/978-3-319-71779-1_12

Provenance

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

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Origins and Spread of Machado-Joseph Disease Ancestral Mutations Events.PMID 29427107Read ↗

Asian origin for the worldwide-spread mutational event in Machado-Joseph disease.Semantic proximity Read ↗

Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype study.Semantic proximity Read ↗

Origins of a mutation: population genetics of Machado-Joseph disease in the Azores (Portugal).Semantic proximity Read ↗

Mutational origin of Machado-Joseph disease in the Australian Aboriginal communities of Groote Eylandt and Yirrkala.Semantic proximity Read ↗

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

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

Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineageSemantic proximity Read ↗

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

Population genetics of wild-type CAG repeats in the Machado-Joseph disease gene in Portugal.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: clinical and genetic aspects, and current treatmentSemantic proximity Read ↗

[Recent advances in molecular genetics of spinocerebellar ataxia type 3/Machado-Joseph disease].Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.