Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia.

doi:10.1016/j.ajhg.2010.10.015

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Article

Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia.

American journal of human genetics - 10 Dec 2010

Vermeer Sascha, Hoischen Alexander, Meijer Rowdy P P, Gilissen Christian, Neveling Kornelia, Wieskamp Nienke, de Brouwer Arjan, Koenig Michel, Anheim Mathieu, Assoum Mirna, Drouot Nathalie, Todorovic Slobodanka, Milic-Rasic Vedrana, Lochmüller Hanns, Stevanin Giovanni, Goizet Cyril, David Albert, Durr Alexandra, Brice Alexis, Kremer Berry, van de Warrenburg Bart P C, Schijvenaars Mascha M V A P, Heister Angelien, Kwint Michael, Arts Peer, van der Wijst Jenny, Veltman Joris, Kamsteeg Erik-Jan, Scheffer Hans, Knoers Nine

Abstract excerpt

Autosomal-recessive cerebellar ataxias comprise a clinically and genetically heterogeneous group of neurodegenerative disorders. In contrast to their dominant counterparts, unraveling the molecular background of these ataxias has proven to be more complicated and the currently known mutations pro...

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Identifiers

PMID: 21092923
DOI: 10.1016/j.ajhg.2010.10.015
PMCID: PMC2997370

Genes

ANO10

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-21092923-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia.PMID 21092923Read ↗

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