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Article

Exome sequencing as a diagnostic tool in a case of undiagnosed juvenile-onset GM1-gangliosidosis.

Neurology - 10 Jul 2012

Pierson Tyler Mark, Adams David A, Markello Thomas, Golas Gretchen, Yang Sandra, Sincan Murat, Simeonov Dimitre R, Fuentes Fajardo Karin, Hansen Nancy F, Cherukuri Praveen F, Cruz Pedro, Teer Jamie K, Mullikin James C, Boerkoel Cornelius F, Gahl William A, Tifft Cynthia J

Abstract excerpt

OBJECTIVE: To utilize high-throughput sequencing to determine the etiology of juvenile-onset neurodegeneration in a 19-year-old woman with progressive motor and cognitive decline. METHODS: Exome sequencing identified an initial list of 133,555 variants in the proband's family, which were filtered...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 22675082
DOI: 10.1212/WNL.0b013e31825f047a
PMCID: PMC3390543

Genes

GLB1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22675082-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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