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Article

Spinocerebellar ataxia type 15: diagnostic assessment, frequency, and phenotypic features.

Journal of medical genetics - 1 Jun 2011

Synofzik Matthis, Beetz Christian, Bauer Claudia, Bonin Michael, Sanchez-Ferrero Elena, Schmitz-Hübsch Tanja, Wüllner Ullrich, Nägele Thomas, Riess Olaf, Schöls Ludger, Bauer Peter

Abstract excerpt

BACKGROUND: To guide time- and cost-efficient analyses of the increasing number of autosomal-dominant spinocerebellar ataxia genes (SCAs), more information about frequency distributions, phenotypic characteristics and optimal diagnostic strategies is warranted. OBJECTIVE: To assess the prevalence and phenotypic spectrum of SCA15 and to confirm multiplex ligation-dependent probe amplification (MLPA) as a robust...

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Source

Identifiers

PMID: 21367767
DOI: 10.1136/jmg.2010.087023

Genes

ITPR1

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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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