Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Mutations in the lysosomal enzyme-targeting pathway and persistent stuttering.

The New England journal of medicine - 25 Feb 2010

Kang Changsoo, Riazuddin Sheikh, Mundorff Jennifer, Krasnewich Donna, Friedman Penelope, Mullikin James C, Drayna Dennis

Abstract excerpt

BACKGROUND: Stuttering is a disorder of unknown cause characterized by repetitions, prolongations, and interruptions in the flow of speech. Genetic factors have been implicated in this disorder, and previous studies of stuttering have identified linkage to markers on chromosome 12. METHODS: We an...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Chromosomes, Human, Pair 12
Share to Frameshift Mutation
Share to Genetic Loci

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Metabolic Networks and Pathways

Share to Mutation, Missense

Share to Pakistan

Share to Phosphoric Diester Hydrolases

Share to Transferases (Other Substituted Phosphate Groups)

Source

Open in PubMed Open full text

Identifiers

PMID: 20147709
DOI: 10.1056/NEJMoa0902630
PMCID: PMC2936507

Genes

GNPTAB
GNPTG
NAGPA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20147709-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations in the lysosomal enzyme-targeting pathway and persistent stuttering.PMID 20147709Read ↗

Variants in GNPTAB, GNPTG and NAGPA genes are associated with stutterers.Semantic proximity Read ↗

A role for inherited metabolic deficits in persistent developmental stuttering.Semantic proximity Read ↗

The Expansion of the Spectrum in Stuttering Disorders to a Novel ARMC Gene Family (ARMC3).Semantic proximity Read ↗

Association between Rare Variants in AP4E1, a Component of Intracellular Trafficking, and Persistent Stuttering.Semantic proximity Read ↗

Genetic analyses of a large consanguineous south Indian family reveal novel variants in NAGPA and four hitherto unreported genes in developmental stuttering.Semantic proximity Read ↗

Mucolipidosis types II and III and non-syndromic stuttering are associated with different variants in the same genesSemantic proximity Read ↗

A novel homozygous PSAP mutation identified by whole exome sequencing in a consanguineous family with metachromatic leukodystrophy: a case report.Semantic proximity Read ↗

A genetic linkage study in Brazil identifies a new locus for persistent developmental stuttering on chromosome 10.Semantic proximity Read ↗

SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegiaSemantic proximity Read ↗

Characterization of a mutation commonly associated with persistent stuttering: evidence for a founder mutation.Semantic proximity Read ↗

Metachromatic Leukodystrophy (MLD): a Pakistani Family with Novel ARSA Gene Mutation.Semantic proximity Read ↗

Stuttering associated with a pathogenic variant in the chaperone protein cyclophilin 40Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.