(Q41929215)

14 October 2017

title

TMEM70 deficiency: long-term outcome of 48 patients (English)

1 reference

Erratum to: TMEM70 deficiency: long-term outcome of 48 patients

14 October 2017

corrigendum / erratum

1 reference

10.1007/S10545-015-9833-9

DOI

12 July 2019

http://api.crossref.org/works?select=update-to&filter=doi:10.1007/S10545-015-9833-9

author

Johannes A Mayr

13

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14 October 2017

27

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14 October 2017

Alexander Broomfield

20

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Vesna Stojanović

Vesna Stojanović

21

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Markéta Tesařová

Marketa Tesarova

3

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Martin Magner

Martin Magner

1

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Carlo Dionisi-Vici

Carlo Dionisi-Vici

22

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Enrico Bertini

Enrico Bertini

16

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Jiri Zeman

Jiri Zeman

26

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Hana Hansíková

5

Hana Hansikova

1 reference

14 October 2017

9

Ronen Spiegel

1 reference

14 October 2017

Veronika Dvorakova

2

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14 October 2017

Stella Mazurova

4

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14 October 2017

Martin Zahorec

6

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14 October 2017

Katarina Brennerova

7

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14 October 2017

Vladimir Bzduch

8

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14 October 2017

Yoseph Horovitz

10

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14 October 2017

Hanna Mandel

11

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14 October 2017

Fatma Tuba Eminoğlu

12

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14 October 2017

Johannes Koch

14

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14 October 2017

Diego Martinelli

15

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14 October 2017

Vassiliki Konstantopoulou

17

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14 October 2017

Joél Smet

18

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14 October 2017

Shamima Rahman

19

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14 October 2017

Rudy van Coster

23

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14 October 2017

Eva Morava

24

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14 October 2017

Wolfgang Sperl

25

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14 October 2017

language of work or name

English

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publication date

18 October 2014

1 reference

Journal of Inherited Metabolic Disease

14 October 2017

published in

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14 October 2017

volume

38

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14 October 2017

issue

3

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14 October 2017

page(s)

417-426

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Systematic identification of human mitochondrial disease genes through integrative genomics

14 October 2017

cites work

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9774-8

Complex V TMEM70 deficiency results in mitochondrial nucleoid disorganization

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9774-8

TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9774-8

Common and Novel TMEM70 Mutations in a Cohort of Italian Patients with Mitochondrial Encephalocardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9774-8

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9774-8

Expression and processing of the TMEM70 protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9774-8

Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9774-8

Mitochondrial membrane assembly of TMEM70 protein.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9774-8

Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9774-8

New mutation of mitochondrial DNAJC19 causing dilated and noncompaction cardiomyopathy, anemia, ataxia, and male genital anomalies

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9774-8

Milder clinical course of Type IV 3-methylglutaconic aciduria due to a novel mutation in TMEM70

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9774-8

Cardiac and clinical phenotype in Barth syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9774-8

Deficiency of mitochondrial ATP synthase of nuclear genetic origin

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9774-8

TMEM70: a mutational hot spot in nuclear ATP synthase deficiency with a pivotal role in complex V biogenesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9774-8

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9774-8

3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9774-8

Acute metabolic decompensation and sudden death in Barth syndrome: report of a family and a literature review.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9774-8

Persistent pulmonary arterial hypertension in the newborn (PPHN): A frequent manifestation of TMEM70 defective patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9774-8

Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9774-8

A novel deficiency of mitochondrial ATPase of nuclear origin

21 January 2018

2 references

https://api.crossref.org/works/10.1007%2FS10545-014-9774-8

21 January 2018

12 December 2020

TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome

1 reference

12 December 2020

Barth syndrome presenting with acute metabolic decompensation in the neonatal period

1 reference

12 December 2020

Screening for nuclear genetic defects in the ATP synthase-associated genes TMEM70, ATP12 and ATP5E in patients with 3-methylglutaconic aciduria

1 reference

12 December 2020

Lactic acid and hyperuricemia of faulty renal urate transport

1 reference

12 December 2020

Restoration of complex V deficiency caused by a novel deletion in the human TMEM70 gene normalizes mitochondrial morphology

1 reference

12 December 2020

A novel homozygous TMEM70 mutation results in congenital cataract and neonatal mitochondrial encephalo-cardiomyopathy

1 reference

12 December 2020

Mild form of 3-methylglutaconic aciduria type IV and mutation in the TMEM70 genes.

1 reference

12 December 2020

Nuclear genetic defects of mitochondrial ATP synthase

1 reference

12 December 2020

10.1007/S10545-014-9774-8

Identifiers

DOI

1 reference

Dimensions Publication ID

14 October 2017

1031795628

0 references

1 reference