(Q27990522)

7 April 2018

title

Chip-based mtDNA mutation screening enables fast and reliable genetic diagnosis of OXPHOS patients (English)

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7 April 2018

author

Valeria Tiranti

11

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7 April 2018

Lars Eijssen

3

object named as

Lars M T Eijssen

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7 April 2018

John H. J. Wokke

6

object named as

John H J Wokke

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7 April 2018

author name string

Mike Gerards

2

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7 April 2018

Alexandra T M Hendrickx

4

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7 April 2018

Roselie J E Jongbloed

5

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7 April 2018

Rogier Q Hintzen

7

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7 April 2018

Maria E Rubio-Gozalbo

8

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7 April 2018

Irenaeus F M De Coo

9

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7 April 2018

Egill Briem

10

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7 April 2018

Hubert J M Smeets

12

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7 April 2018

Rudy G E van Eijsden

1

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7 April 2018

language of work or name

English

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publication date

1 October 2006

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7 April 2018

published in

Genetics in Medicine

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7 April 2018

volume

8

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7 April 2018

issue

10

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7 April 2018

page(s)

620-627

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7 April 2018

New approaches to the treatment of mitochondrial disorders

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Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh's disease.

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The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency.

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Assigning pathogenicity to mitochondrial tRNA mutations: when "definitely maybe" is not good enough

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Search for characteristic structural features of mammalian mitochondrial tRNAs.

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mtDB: Human Mitochondrial Genome Database, a resource for population genetics and medical sciences

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Recurrent brain hematomas in MELAS associated with an ND5 gene mitochondrial mutation

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The mitochondrial DNA G13513A transition in ND5 is associated with a LHON/MELAS overlap syndrome and may be a frequent cause of MELAS

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Mitochondrial Encephalomyopathy Associated with a Novel Mutation in the Mitochondrial tRNAleu(UUR)Gene (A3243T)

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Identifiers

DOI

10.1097/01.GIM.0000237782.94878.05

1 reference

7 April 2018

Dimensions Publication ID

1041439361

0 references

1 reference

7 April 2018