(Q34515002)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21063443%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

title

Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21063443%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

3

1 reference

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16 January 2020

Cees Noordam

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21063443%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

Martin Lammens

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21063443%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

Lambert P van den Heuvel

7

object named as

Lambert P van den Heuvel

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21063443%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

12

Jan A M Smeitink

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21063443%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

14

Eva Morava

1 reference

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16 January 2020

2

Saskia B Wortmann

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21063443%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

4

Ernie M H F Bongers

1 reference

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16 January 2020

1

Tjitske Kleefstra

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21063443%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

author name string

Kinga Hadzsiev

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21063443%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

Willy M Nillesen

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21063443%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

Katalin Hollody

9

1 reference

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16 January 2020

Gabrielle Gillessen-Kaesbach

10

1 reference

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16 January 2020

Ineke van der Burgt

13

1 reference

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16 January 2020

publication date

10 November 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21063443%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

16 January 2020

published in

1 reference

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16 January 2020

volume

19

1 reference

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16 January 2020

issue

2

1 reference

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16 January 2020

page(s)

138-144

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21063443%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3025797

Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3025797

Control of mitochondria dynamics and oxidative metabolism by cAMP, AKAPs and the proteasome.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3025797

Pericardial and abdominal fluid accumulation in congenital disorder of glycosylation type Ia.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3025797

Noonan syndrome and related disorders: dysregulated RAS-mitogen activated protein kinase signal transduction

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3025797

Deletion of VCX-A due to NAHR plays a major role in the occurrence of mental retardation in patients with X-linked ichthyosis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3025797

Short-Chain Acyl-CoA Dehydrogenase Deficiency: Studies in a Large Family Adding to the Complexity of the Disorder

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3025797

3-Methylglutaconic aciduria type I is caused by mutations in AUH

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3025797

Metabolic consequences of a novel missense mutation of the mtDNA CO I gene

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3025797

Myopathy caused by HRAS germline mutations: implications for disturbed myogenic differentiation in the presence of constitutive HRas activation

7 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.171

Cardiofaciocutaneous (CFC) syndrome associated with muscular coenzyme Q10 deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.171

Mitochondrial DNA haplogroup 'R' is associated with Noonan syndrome of south India

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.171

Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.171

NMR spectroscopic studies on the late onset form of 3-methylglutaconic aciduria type I and other defects in leucine metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.171

A novel polymerase gamma mutation in a family with ophthalmoplegia, neuropathy, and Parkinsonism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.171

X-linked ichthyosis (steroid sulfatase deficiency) is associated with increased risk of attention deficit hyperactivity disorder, autism and social communication deficits.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.171

Isoform-specific interaction of C-RAF with mitochondria

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.171

Novel mitochondrial DNA mutations implicated in Noonan syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.171

Measurement of the Energy-Generating Capacity of Human Muscle Mitochondria: Diagnostic Procedure and Application to Human Pathology

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21063443

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Mitochondrial disease criteria: Diagnostic applications in children

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21063443

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2010.171

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21063443%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21063443%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

PubMed publication ID

21063443

1 reference