(Q48903075)

English

Exome sequencing identifies GCDH (glutaryl-CoA dehydrogenase) mutations as a cause of a progressive form of early-onset generalized dystonia.

scientific article published on 13 September 2011

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

16 February 2018

http://europepmc.org/abstract/MED/21912879

Exome sequencing identifies GCDH (glutaryl-CoA dehydrogenase) mutations as a cause of a progressive form of early-onset generalized dystonia. (English)

1 reference

Europe PubMed Central

PubMed publication ID

16 February 2018

http://europepmc.org/abstract/MED/21912879

8

1 reference

Europe PubMed Central

PubMed publication ID

16 February 2018

http://europepmc.org/abstract/MED/21912879

Alberto Bergareche

object named as

Alberto Bergareche

6

0 references

Coro Paisán-Ruíz

9

object named as

Coro Paisán-Ruiz

0 references

author name string

Jose Felix Marti-Masso

1

1 reference

Europe PubMed Central

PubMed publication ID

16 February 2018

http://europepmc.org/abstract/MED/21912879

Javier Ruiz-Martínez

2

1 reference

Europe PubMed Central

PubMed publication ID

16 February 2018

http://europepmc.org/abstract/MED/21912879

Vladimir Makarov

3

1 reference

Europe PubMed Central

PubMed publication ID

16 February 2018

http://europepmc.org/abstract/MED/21912879

Adolfo López de Munain

4

1 reference

Europe PubMed Central

PubMed publication ID

16 February 2018

http://europepmc.org/abstract/MED/21912879

Ana Gorostidi

5

1 reference

Europe PubMed Central

PubMed publication ID

16 February 2018

http://europepmc.org/abstract/MED/21912879

Seungtai Yoon

7

1 reference

Europe PubMed Central

PubMed publication ID

16 February 2018

http://europepmc.org/abstract/MED/21912879

publication date

13 September 2011

1 reference

Europe PubMed Central

PubMed publication ID

16 February 2018

http://europepmc.org/abstract/MED/21912879

1 reference

Europe PubMed Central

PubMed publication ID

16 February 2018

http://europepmc.org/abstract/MED/21912879

131

1 reference

Europe PubMed Central

PubMed publication ID

16 February 2018

http://europepmc.org/abstract/MED/21912879

3

1 reference

Europe PubMed Central

PubMed publication ID

16 February 2018

http://europepmc.org/abstract/MED/21912879

435-442

1 reference

Europe PubMed Central

PubMed publication ID

16 February 2018

http://europepmc.org/abstract/MED/21912879

https://scigraph.springernature.com/pub.10.1007/s00439-011-1086-6

0 references

Diagnosis and management of glutaric aciduria type I.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1086-6

21 January 2018

Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1086-6

21 January 2018

Genetics of dystonia: an overview

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1086-6

21 January 2018

DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1086-6

21 January 2018

Classification and genetics of dystonia

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1086-6

21 January 2018

A framework for variation discovery and genotyping using next-generation DNA sequencing data

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1086-6

21 January 2018

Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35).

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1086-6

21 January 2018

Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1086-6

21 January 2018

Differential diagnosis of dystonia

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1086-6

21 January 2018

Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1086-6

21 January 2018

Autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia: evidence of a phenotypic continuum between dominant and recessive forms

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1086-6

21 January 2018

Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1086-6

21 January 2018

Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA).

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1086-6

21 January 2018

Fast and accurate short read alignment with Burrows-Wheeler transform

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1086-6

21 January 2018

The Sequence Alignment/Map format and SAMtools

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1086-6

21 January 2018

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1086-6

21 January 2018

The monogenic primary dystonias

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1086-6

21 January 2018

The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1086-6

21 January 2018

Brain injury in glutaric aciduria type I: the value of functional techniques in magnetic resonance imaging

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1086-6

21 January 2018

The urinary excretion of glutarylcarnitine is an informative tool in the biochemical diagnosis of glutaric acidemia type I.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1086-6

21 January 2018

Study of a Swiss dopa-responsive dystonia family with a deletion in GCH1: redefining DYT14 as DYT5.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1086-6

21 January 2018

AnnTools: a comprehensive and versatile annotation toolkit for genomic variants

1 reference

https://pubmed.ncbi.nlm.nih.gov/21912879

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dystonia in Parkinson's disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/21912879

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two sisters with generalized dystonia associated with homocystinuria

1 reference

https://pubmed.ncbi.nlm.nih.gov/21912879

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Movement disorders in childhood organic acidurias. Clinical, neuroimaging, and biochemical correlations

1 reference

https://pubmed.ncbi.nlm.nih.gov/21912879

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical and molecular investigation of 19 Japanese cases of glutaric acidemia type 1

1 reference

https://pubmed.ncbi.nlm.nih.gov/21912879

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gene structure and mutations of glutaryl-coenzyme A dehydrogenase: impaired association of enzyme subunits that is due to an A421V substitution causes glutaric acidemia type I in the Amish

1 reference

https://pubmed.ncbi.nlm.nih.gov/21912879

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase

1 reference

https://pubmed.ncbi.nlm.nih.gov/21912879

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Glutaryl-CoA Dehydrogenase Deficiency in Spain: Evidence of Two Groups of Patients, Genetically, and Biochemically Distinct

1 reference

https://pubmed.ncbi.nlm.nih.gov/21912879

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00439-011-1086-6

1 reference

Europe PubMed Central

PubMed publication ID

16 February 2018

http://europepmc.org/abstract/MED/21912879

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

16 February 2018

http://europepmc.org/abstract/MED/21912879

ResearchGate publication ID

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