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Article

Verification of Inter-laboratorial Genotyping Consistency in the Molecular Diagnosis of Polyglutamine Spinocerebellar Ataxias.

Journal of molecular neuroscience : MN - 1 Jan 2016

Ramos Amanda, Raposo Mafalda, Milà Montserrat, Bettencourt Conceição, Houlden Henry, Cisneros Bulmaro, Magaña Jonathan J, Bettencourt Bruno Filipe, Bruges-Armas Jácome, Santos Cristina, Lima Manuela

Abstract excerpt

The polyglutamine spinocerebellar ataxias (SCAs) constitute a clinically and genetically heterogeneous group of rare late-onset neurodegenerative disorders, caused by CAG expansions in the coding region of the respective genes. Given their considerable clinical overlapping, differential diagnosis relies on molecular testing. Laboratory best practice guidelines for molecular genetic testing of the SCAs were...

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PMID: 26454745
DOI: 10.1007/s12031-015-0646-y

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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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