Novel (ovario) leukodystrophy related to AARS2 mutations (Q33987187)

30 July 2017

Novel (ovario) leukodystrophy related to AARS2 mutations (English)

1 reference

30 July 2017

11

1 reference

30 July 2017

Daria Diodato

2

0 references

Enrico Baruffini

Enrico Baruffini

7

0 references

Nicole I Wolf

Nicole I Wolf

22

0 references

Adeline Vanderver

Adeline Vanderver

26

0 references

Daniele Ghezzi

Daniele Ghezzi

27

0 references

Cristina Dallabona

Cristina Dallabona

1

0 references

Holger Prokisch

Holger Prokisch

12

0 references

Katrin Õunap

16

Katrin Ounap

1 reference

30 July 2017

25

Massimo Zeviani

1 reference

30 July 2017

24

Costanza Lamperti

1 reference

30 July 2017

9

Caterina Mariotti

1 reference

30 July 2017

4

Tobias B Haack

1 reference

30 July 2017

10

Tim M Strom

1 reference

30 July 2017

5

Lee-Jun Wong

1 reference

30 July 2017

23

Ileana Ferrero

1 reference

30 July 2017

8

Laura Melchionda

1 reference

30 July 2017

21

Truus E M Abbink

1 reference

30 July 2017

28

Marjo S van der Knaap

1 reference

30 July 2017

Sietske H Kevelam

3

1 reference

30 July 2017

Gajja S Salomons

6

1 reference

30 July 2017

Kim Chapman

13

1 reference

30 July 2017

Alison Colley

14

1 reference

30 July 2017

Helena Rocha

15

1 reference

30 July 2017

Raphael Schiffmann

17

1 reference

30 July 2017

Ettore Salsano

18

1 reference

30 July 2017

Mario Savoiardo

19

1 reference

30 July 2017

Eline M Hamilton

20

1 reference

30 July 2017

language of work or name

English

0 references

publication date

7 May 2014

1 reference

30 July 2017

1 reference

30 July 2017

82

1 reference

30 July 2017

2063-2071

1 reference

30 July 2017

23

1 reference

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

30 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4118500

Mitochondrial aminoacyl-tRNA synthetases in human disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4118500

Aminoacyl-tRNA synthetases in medicine and disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4118500

A novel homozygous mutation in SUCLA2 gene identified by exome sequencing

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4118500

Exploring the utility of whole-exome sequencing as a diagnostic tool in a child with atypical episodic muscle weakness

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4118500

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4118500

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4118500

Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4118500

Leucoencephalopathy with brainstem and spinal cord involvement and high lactate: quantitative magnetic resonance imaging

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4118500

Human diseases with impaired mitochondrial protein synthesis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4118500

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4118500

Biochemical diagnosis of mitochondrial disorders

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4118500

MitoP2: an integrative tool for the analysis of the mitochondrial proteome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4118500

Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4118500

Ovarian failure related to eukaryotic initiation factor 2B mutations

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4118500

Leukodystrophy in patients with ovarian dysgenesis.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4118500

Elevated recombination rates in transcriptionally active DNA

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4118500

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4118500

Translation of a yeast mitochondrial tRNA synthetase initiated at redundant non-AUG codons

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4118500

Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4118500

Defining and categorizing leukoencephalopathies of unknown origin: MR imaging approach

29 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24808023

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

POLG mutation in a patient with cataracts, early-onset distal muscle weakness and atrophy, ovarian dysgenesis and 3-methylglutaconic aciduria

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24808023

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1212/WNL.0000000000000497

1 reference

release_dhiugmc3ybadtm6nbrihwmqkda

30 July 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/dhiugmc3ybadtm6nbrihwmqkda

mapped directly with Wikidata item

24 November 2022

based on heuristic

PMCID

4118500

1 reference

30 July 2017

1 reference