Mutations in the lysosomal enzyme-targeting pathway and persistent stuttering (Q34115067)

31 July 2017

Mutations in the lysosomal enzyme-targeting pathway and persistent stuttering (English)

1 reference

31 July 2017

6

James C Mullikin

1 reference

31 July 2017

Changsoo Kang

1

1 reference

31 July 2017

Sheikh Riazuddin

2

1 reference

31 July 2017

Jennifer Mundorff

3

1 reference

31 July 2017

Donna Krasnewich

4

1 reference

31 July 2017

Penelope Friedman

5

1 reference

31 July 2017

Dennis Drayna

7

1 reference

31 July 2017

language of work or name

English

0 references

publication date

10 February 2010

1 reference

The New England Journal of Medicine

31 July 2017

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31 July 2017

362

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31 July 2017

8

1 reference

31 July 2017

677-685

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Combined tarsal and carpal tunnel syndrome in mucolipidosis type III. A case study and review.

31 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936507

Genetic etiology in cases of recovered and persistent stuttering in an unselected, longitudinal sample of young twins

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936507

Genetic studies of stuttering in a founder population

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936507

When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936507

New complexities in the genetics of stuttering: significant sex-specific linkage signals

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936507

Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha / beta -subunits precursor gene

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936507

Genomewide significant linkage to stuttering on chromosome 12.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936507

Genomic organisation of the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) and its mutations in mucolipidosis III.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936507

Molecular basis of variant pseudo-hurler polydystrophy (mucolipidosis IIIC)

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936507

Early childhood stuttering I: persistency and recovery rates

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936507

High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936507

Epidemiological and offspring analyses of developmental speech disorders using data from the Colorado Adoption Project

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936507

Fibroblasts from patients with I-cell disease and pseudo-Hurler polydystrophy are deficient in uridine 5'-diphosphate-N-acetylglucosamine: glycoprotein N-acetylglucosaminylphosphotransferase activity.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936507

Multiple sequence alignment with hierarchical clustering

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936507

Genetic Factors in Stuttering Confirmed

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936507

Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936507

Genetic and environmental influences on stuttering and tics in Japanese twin children.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936507

Evidence for a major gene influence on persistent developmental stuttering.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936507

A study of the genetic and environmental etiology of stuttering in a selected twin sample.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936507

Results of a genome-wide linkage scan for stuttering

28 October 2018

1 reference

12 December 2020

A stuttering severity instrument for children and adults

1 reference

12 December 2020

Concordance for stuttering in monozygotic and dizygotic twin pairs

1 reference

12 December 2020

Bovine UDP-N-acetylglucosamine:lysosomal-enzyme N-acetylglucosamine-1-phosphotransferase. I. Purification and subunit structure

1 reference

12 December 2020

Stuttering in families of adopted stutterers

1 reference

12 December 2020

Missense mutations in N-acetylglucosamine-1-phosphotransferase alpha/beta subunit gene in a patient with mucolipidosis III and a mild clinical phenotype

1 reference

12 December 2020

Identifiers

DOI

10.1056/NEJMOA0902630

1 reference

release_olkkv2nhhvh5rdo2fflgcatbve

31 July 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/olkkv2nhhvh5rdo2fflgcatbve

24 November 2022

mapped directly with Wikidata item

PMCID

2936507

1 reference

31 July 2017

1 reference