A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia (Q35136950)

6 August 2017

0 references

A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia (English)

1 reference

progressive myoclonus epilepsy

6 August 2017

1 reference

18

1 reference

6 August 2017

17

Anna-Elina Lehesjoki

1 reference

6 August 2017

Michael Schwake

2

0 references

John O'Sullivan

object named as

John D O'Sullivan

8

0 references

Samuel Berkovic

object named as

Samuel F Berkovic

19

0 references

Bas Bloem

14

object named as

Bastiaan R Bloem

1 reference

6 August 2017

4

Leanne M Dibbens

1 reference

6 August 2017

Mark A Corbett

1

1 reference

6 August 2017

Melanie Bahlo

3

1 reference

6 August 2017

Meng Lin

5

1 reference

6 August 2017

Luke C Gandolfo

6

1 reference

6 August 2017

Danya F Vears

7

1 reference

6 August 2017

Thomas Robertson

9

1 reference

6 August 2017

Marta A Bayly

10

1 reference

6 August 2017

Alison E Gardner

11

1 reference

6 August 2017

Annemarie M Vlaar

12

1 reference

6 August 2017

G Christoph Korenke

13

1 reference

6 August 2017

Irenaeus F de Coo

15

1 reference

6 August 2017

Judith M A Verhagen

16

1 reference

6 August 2017

language of work or name

English

0 references

publication date

5 May 2011

1 reference

American Journal of Human Genetics

6 August 2017

1 reference

6 August 2017

88

1 reference

6 August 2017

5

1 reference

6 August 2017

657-663

1 reference

A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24.

6 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146720

Galaxy: a comprehensive approach for supporting accessible, reproducible, and transparent computational research in the life sciences

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146720

Galaxy: a web-based genome analysis tool for experimentalists

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146720

The Sequence Alignment/Map format and SAMtools

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146720

The autosomal recessively inherited progressive myoclonus epilepsies and their genes

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146720

Fast and accurate short read alignment with Burrows-Wheeler transform

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146720

A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146720

Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146720

PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146720

An elaborate classification of SNARE proteins sheds light on the conservation of the eukaryotic endomembrane system

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146720

The ER v-SNAREs are required for GPI-anchored protein sorting from other secretory proteins upon exit from the ER.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146720

Molecular background of progressive myoclonus epilepsy

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146720

13 July 2018

Estimating allele age.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146720

Assessment of linkage disequilibrium by the decay of haplotype sharing, with application to fine-scale genetic mapping

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146720

Functional characterization of the S. cerevisiae genome by gene deletion and parallel analysis

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146720

Conserved structural features of the synaptic fusion complex: SNARE proteins reclassified as Q- and R-SNAREs

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146720

Additional modules for versatile and economical PCR-based gene deletion and modification in Saccharomyces cerevisiae

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146720

Localization, dynamics, and protein interactions reveal distinct roles for ER and Golgi SNAREs

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146720

Characterization of a cis-Golgi matrix protein, GM130

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146720

CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146720

Sec9 is a SNAP-25-like component of a yeast SNARE complex that may be the effector of Sec4 function in exocytosis

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146720

Progressive myoclonus epilepsies: specific causes and diagnosis

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146720

A system of shuttle vectors and yeast host strains designed for efficient manipulation of DNA in Saccharomyces cerevisiae

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146720

SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146720

Neuronal ceroid lipofuscinoses

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146720

A genomic perspective on membrane compartment organization.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146720

A Structural Change Occurs upon Binding of Syntaxin to SNAP-25

27 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21549339

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2011.04.011

1 reference

6 August 2017

1 reference

6 August 2017

1 reference