(Q51708433)

3 July 2019

title

Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies. (English)

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3 July 2019

Douglass Matthew Turnbull

author

25

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3 July 2019

Robert McFarland

27

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3 July 2019

Angela Pyle

2

Angela Pyle

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PMCID

6558267

3 July 2019

Mauro Santibanez-Korev

26

Mauro Santibanez-Koref

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3 July 2019

29

Patrick F Chinnery

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3 July 2019

Emma L. Blakely

4

Emma L Blakely

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3 July 2019

Gráinne S. Gorman

23

Grainne S Gorman

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3 July 2019

Angela Abicht

18

Angela Abicht

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3 July 2019

Robert William Taylor

1

Robert W Taylor

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3 July 2019

Elke Holinski-Feder

17

Elke Holinski-Feder

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3 July 2019

John W Yarham

11

John W Yarham

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3 July 2019

Andrew A Morris

21

Andrew A M Morris

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3 July 2019

Vivienne C M Neeve

9

Vivienne C Neeve

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3 July 2019

Ulrike Schara

13

Ulrike Schara

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3 July 2019

Beril Talim

14

Beril Talim

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3 July 2019

Birgit Czermin

19

Birgit Czermin

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3 July 2019

Grace Vassallo

22

Grace Vassallo

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3 July 2019

Jennifer M Duff

5

Jennifer Duff

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3 July 2019

Tania Smertenko

7

Tania Smertenko

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3 July 2019

Venkateswaran Ramesh

24

Venkateswaran Ramesh

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3 July 2019

Stephanie Kleinle

20

Stephanie Kleinle

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3 July 2019

author name string

Langping He

6

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3 July 2019

Andrew Best

10

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3 July 2019

Ivo Baric

16

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3 July 2019

language of work or name

English

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publication date

1 July 2014

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3 July 2019

The Journal of the American Medical Association

published in

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3 July 2019

volume

312

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3 July 2019

page(s)

68-77

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3 July 2019

issue

1

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3 July 2019

Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene

cites work

1 reference

12 December 2020

Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy

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12 December 2020

Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.

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12 December 2020

The diagnosis of mitochondrial muscle disease.

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12 December 2020

Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA).

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12 December 2020

Over-expression in Escherichia coli and characterization of two recombinant isoforms of human FAD synthetase.

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12 December 2020

Biochemical assays of respiratory chain complex activity

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12 December 2020

Fast and accurate short read alignment with Burrows-Wheeler transform

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12 December 2020

VarScan: variant detection in massively parallel sequencing of individual and pooled samples

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Pentatricopeptide repeat domain protein 1 lowers the levels of mitochondrial leucine tRNAs in cells

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Acute infantile liver failure due to mutations in the TRMU gene.

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12 December 2020

Genetic bases of mitochondrial respiratory chain disorders

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12 December 2020

Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome

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12 December 2020

Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect

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12 December 2020

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

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12 December 2020

A neurological perspective on mitochondrial disease.

1 reference

12 December 2020

High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency

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12 December 2020

Dindel: accurate indel calls from short-read data

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12 December 2020

Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency

1 reference

12 December 2020

Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy

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12 December 2020

Mechanisms of mitochondrial diseases

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12 December 2020

Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation

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12 December 2020

Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9.

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12 December 2020

Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing

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12 December 2020

Novel infantile-onset leukoencephalopathy with high lactate level and slow improvement.

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12 December 2020

Monogenic mitochondrial disorders

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12 December 2020

Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations.

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12 December 2020

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

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12 December 2020

Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis

1 reference

12 December 2020

An RMND1 Mutation causes encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect

1 reference

12 December 2020

Infantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutation

1 reference

12 December 2020

Mitochondrial disorders as windows into an ancient organelle

1 reference

12 December 2020

Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease

1 reference

12 December 2020

Targeted exome sequencing of suspected mitochondrial disorders

1 reference

12 December 2020

ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy

1 reference

12 December 2020

MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast

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12 December 2020

Compound heterozygous mutations in glycyl-tRNA synthetase are a proposed cause of systemic mitochondrial disease

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12 December 2020

Identifiers

DOI

10.1001/JAMA.2014.7184

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3 July 2019

PMCID

6558267

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3 July 2019

PubMed ID

25058219

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3 July 2019