(Q44951065)

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Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome

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Europe PubMed Central

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7 December 2017

Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome (English)

1 reference

Europe PubMed Central

PubMed publication ID

7 December 2017

growth hormone deficiency

1 reference

based on heuristic

inferred from title

peripheral neuropathy

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based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

Jeremy Schwartzentruber

1

1 reference

Europe PubMed Central

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7 December 2017

12

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Europe PubMed Central

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7 December 2017

Simon Papillon-Cavanagh

5

object named as

Simon Papillon-Cavanagh

0 references

object named as

Mariella Simon

10

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Jacques L. Michaud

14

object named as

Jacques Michaud

1 reference

Europe PubMed Central

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7 December 2017

3

object named as

Jacek Majewski

1 reference

Europe PubMed Central

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7 December 2017

13

object named as

FORGE Canada Consortium

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7 December 2017

author name string

Daniela Buhas

2

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Florin Sasarman

4

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7 December 2017

Simon Papillon-Cavanagh

5

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Isabelle Thiffault

6

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Katherine M Sheldon

7

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Christine Massicotte

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Lysanne Patry

9

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Amir S Zare

11

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Richard G Boles

15

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Cheri L Deal

16

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Valerie Desilets

17

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Eric A Shoubridge

18

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Mark E Samuels

19

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publication date

18 October 2014

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35

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11

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1285-1289

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7 December 2017

FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22629

21 January 2018

Toward the full set of human mitochondrial aminoacyl-tRNA synthetases: characterization of AspRS and TyrRS

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22629

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22629

21 January 2018

Identification of a mutation in LARS as a novel cause of infantile hepatopathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22629

21 January 2018

MitoProteome: mitochondrial protein sequence database and annotation system

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22629

21 January 2018

MUSCLE: multiple sequence alignment with high accuracy and high throughput

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22629

21 January 2018

Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22629

21 January 2018

Human mitochondrial tRNAs in health and disease.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22629

21 January 2018

Long-term follow-up of neonatal mitochondrial cytopathies: a study of 57 patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22629

21 January 2018

Ophthalmological findings in children and young adults with genetically verified mitochondrial disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22629

21 January 2018

Mitochondrial aminoacyl-tRNA synthetases in human disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22629

21 January 2018

Blue native polyacrylamide gel electrophoresis: a powerful diagnostic tool for the detection of assembly defects in the enzyme complexes of oxidative phosphorylation.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22629

21 January 2018

Unique hereditary sensory and autonomic neuropathy with growth hormone deficiency.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22629

21 January 2018

The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22629

21 January 2018

Absence of cancer-associated changes in human fibroblasts immortalized with telomerase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22629

21 January 2018

Biogenesis of glutaminyl-mt tRNAGln in human mitochondria

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22629

21 January 2018

Isoleucyl-tRNA synthetase levels modulate the penetrance of a homoplasmic m.4277T>C mitochondrial tRNA(Ile) mutation causing hypertrophic cardiomyopathy.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22629

21 January 2018

Endocrine disorders in mitochondrial disease.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22629

21 January 2018

Blue native electrophoresis for isolation of membrane protein complexes in enzymatically active form

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22629

21 January 2018

Abnormal growth in mitochondrial disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22629

21 January 2018

Expression and functional analysis of SURF1 in Leigh syndrome patients with cytochrome c oxidase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22629

21 January 2018

Radioactive labeling of mitochondrial translation products in cultured cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22629

21 January 2018

Achalasia as the harbinger of a novel mitochondrial disorder in childhood

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22629

7 January 2021

based on heuristic

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Identifiers

10.1002/HUMU.22629

1 reference

Europe PubMed Central

PubMed publication ID

7 December 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

7 December 2017

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