(Q39026056)

8 September 2017

title

PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder (English)

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Erratum: PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder

8 September 2017

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corrigendum / erratum

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12 July 2019

http://api.crossref.org/works?select=update-to&filter=doi:10.1038/JHG.2017.13

Hirotomo Saitsu

16

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Mitsuhiro Kato

object named as

Mitsuhiro Kato

3

0 references

Ayelet Eran

8

object named as

Ayelet Eran

1 reference

8 September 2017

Takeshi Mizuguchi

1

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8 September 2017

Mitsuko Nakashima

2

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8 September 2017

Keitaro Yamada

4

1 reference

8 September 2017

Tohru Okanishi

5

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8 September 2017

Nina Ekhilevitch

6

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8 September 2017

Hanna Mandel

7

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8 September 2017

Miyuki Toyono

9

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8 September 2017

Yukio Sawaishi

10

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8 September 2017

Hirotaka Motoi

11

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8 September 2017

Masaaki Shiina

12

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8 September 2017

Kazuhiro Ogata

13

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8 September 2017

Satoko Miyatake

14

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8 September 2017

Noriko Miyake

15

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8 September 2017

Naomichi Matsumoto

17

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8 September 2017

publication date

12 January 2017

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Journal of Human Genetics

8 September 2017

published in

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8 September 2017

volume

62

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8 September 2017

issue

5

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8 September 2017

page(s)

525-529

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Human mitochondrial tRNAs: biogenesis, function, structural aspects, and diseases

8 September 2017

cites work

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2016.163

Mechanisms of mitochondrial diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2016.163

The role of aminoacyl-tRNA synthetases in genetic diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2016.163

Mitochondrial aminoacyl-tRNA synthetases in human disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2016.163

Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2016.163

Whole exome sequencing reveals mutations in NARS2 and PARS2, encoding the mitochondrial asparaginyl-tRNA synthetase and prolyl-tRNA synthetase, in patients with Alpers syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2016.163

Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2).

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2016.163

De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2016.163

Hemiconvulsion-hemiplegia-epilepsy syndrome: current understandings

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2016.163

Hemiconvulsion-hemiplegia-epilepsy syndrome associated with CACNA1A S218L mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2016.163

Phenotypic and genotypic variability in Alpers syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2016.163

21 January 2018

Identifiers

DOI

10.1038/JHG.2016.163

1 reference

8 September 2017

1 reference