(Q48268668)

10 February 2018

title

MRPL44 mutations cause a slowly progressive multisystem disease with childhood-onset hypertrophic cardiomyopathy (English)

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10 February 2018

author

Richard J Rodenburg

5

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10 February 2018

Thomas Meitinger

8

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10 February 2018

Claudia B. Catarino

Claudia B Catarino

3

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Holger Prokisch

Holger Prokisch

10

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Tobias B Haack

2

Tobias B Haack

1 reference

10 February 2018

Thomas Klopstock

11

Thomas Klopstock

1 reference

10 February 2018

Tim M Strom

6

Tim M Strom

1 reference

10 February 2018

Felix Distelmaier

1

Felix Distelmaier

1 reference

10 February 2018

Fabian Baertling

7

Fabian Baertling

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10 February 2018

author name string

Constanze Gallenmüller

4

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10 February 2018

Ertan Mayatepek

9

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10 February 2018

publication date

24 March 2015

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10 February 2018

published in

Neurogenetics

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10 February 2018

volume

16

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10 February 2018

issue

4

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10 February 2018

page(s)

319-323

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10 February 2018

https://scigraph.springernature.com/pub.10.1007/s10048-015-0444-2

exact match

0 references

cites work

Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutation

1 reference

https://api.crossref.org/works/10.1007%2FS10048-015-0444-2

Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-015-0444-2

Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-015-0444-2

Mutations in mitochondrial ribosomal protein MRPL12 leads to growth retardation, neurological deterioration and mitochondrial translation deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-015-0444-2

Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to underlie mitochondrial infantile cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-015-0444-2

Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-015-0444-2

The mitochondrial proteome database: MitoP2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-015-0444-2

LRPPRC is necessary for polyadenylation and coordination of translation of mitochondrial mRNAs

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-015-0444-2

10.1007/S10048-015-0444-2

21 January 2018

Identifiers

DOI

1 reference

10 February 2018

1 reference

10 February 2018