(Q48462145)

11 February 2018

title

The first Japanese case of leukodystrophy with ovarian failure arising from novel compound heterozygous AARS2 mutations. (English)

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11 February 2018

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3

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author name string

Mio Hamatani

1

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11 February 2018

Naoto Jingami

2

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11 February 2018

Shino Shimada

4

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11 February 2018

Keiko Shimojima

5

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11 February 2018

Megumi Asada-Utsugi

6

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11 February 2018

Kenji Yoshinaga

7

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11 February 2018

Norihito Uemura

8

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11 February 2018

Hirofumi Yamashita

9

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11 February 2018

Kengo Uemura

10

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11 February 2018

Ryosuke Takahashi

11

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11 February 2018

Naomichi Matsumoto

12

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11 February 2018

Toshiyuki Yamamoto

13

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11 February 2018

publication date

2 June 2016

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11 February 2018

Journal of Human Genetics

published in

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11 February 2018

volume

61

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issue

10

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11 February 2018

page(s)

899-902

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11 February 2018

https://scigraph.springernature.com/pub.10.1038/jhg.2016.64

exact match

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cites work

Where has all the white matter gone? Unraveling the mysteries of leukoencephalopathies

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2016.64

Inherited leukoencephalopathies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2016.64

Invited article: an MRI-based approach to the diagnosis of white matter disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2016.64

De novo SOX11 mutations cause Coffin-Siris syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2016.64

Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2016.64

CSF1R mutations link POLD and HDLS as a single disease entity

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2016.64

Haploinsufficiency of CSF-1R and clinicopathologic characterization in patients with HDLS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2016.64

Screening for known mutations in EIF2Bgenes in a large panel of patients with premature ovarian failure

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2016.64

The ovarioleukodystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2016.64

Leukoencephalopathy with vanishing white matter: a review

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2016.64

Novel (ovario) leukodystrophy related to AARS2 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2016.64

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2016.64

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2016.64

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2016.64

Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (AARS2) defects predicts differential effects on aminoacylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2016.64

Phenotypic variation in leukoencephalopathy with vanishing white matter

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27251004

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/JHG.2016.64

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11 February 2018

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11 February 2018