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Article

Late-onset sacsinopathy diagnosed by exome sequencing and comparative genomic hybridization.

Journal of neurogenetics - 1 Dec 2013

Pyle Angela, Griffin Helen, Duff Jennifer, Bennett Shona, Zwolinski Simon, Smertenko Tania, Yu-Wai Man Patrick, Santibanez-Koref Mauro, Horvath Rita, Chinnery Patrick F

Abstract excerpt

The molecular diagnosis of adult-onset autosomal recessive cerebellar ataxias remains challenging because of genetic heterogeneity. However, recently developed molecular genetic techniques will potentially revolutionize the diagnostic approach. Here we set out to define the genetic basis of the ataxia in two brothers with no molecular diagnosis. Clinical evaluation was followed by whole-exome second-generation...

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Source

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Identifiers

PMID: 24180463
DOI: 10.3109/01677063.2013.831094
PMCID: PMC4038496

Genes

SACS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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