Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway. (Q34515002)

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16 January 2020

title

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

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3

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Cees Noordam

6

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Martin Lammens

11

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Lambert P van den Heuvel

7

object named as

Lambert P van den Heuvel

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12

Jan A M Smeitink

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14

Eva Morava

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2

Saskia B Wortmann

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4

Ernie M H F Bongers

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1

Tjitske Kleefstra

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author name string

Kinga Hadzsiev

5

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Willy M Nillesen

8

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Katalin Hollody

9

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Gabrielle Gillessen-Kaesbach

10

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Ineke van der Burgt

13

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publication date

10 November 2010

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European Journal of Human Genetics

16 January 2020

published in

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volume

19

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page(s)

138-144

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issue

2

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https://scigraph.springernature.com/pub.10.1038/ejhg.2010.171

16 January 2020

exact match

0 references

1 reference

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

7 July 2018

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

7 July 2018

1 reference

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

7 July 2018

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

7 July 2018

1 reference

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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

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

7 July 2018

1 reference

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

7 July 2018

1 reference

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

7 July 2018

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

7 July 2018

1 reference

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Cardiofaciocutaneous (CFC) syndrome associated with muscular coenzyme Q10 deficiency.

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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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

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

21 January 2018

1 reference

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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

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Isoform-specific interaction of C-RAF with mitochondria

21 January 2018

1 reference

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Novel mitochondrial DNA mutations implicated in Noonan syndrome

21 January 2018

1 reference

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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

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12 December 2020

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Mitochondrial disease criteria: Diagnostic applications in children

1 reference

PubMed

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

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12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2010.171

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16 January 2020

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16 January 2020

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