(Q41921208)

English

Identification and functional characterization of a novel MTFMT mutation associated with selective vulnerability of the visual pathway and a mild neurological phenotype

scientific article published on 5 January 2017

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scholarly article

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Europe PubMed Central

PubMed publication ID

14 October 2017

Identification and functional characterization of a novel MTFMT mutation associated with selective vulnerability of the visual pathway and a mild neurological phenotype (English)

1 reference

Europe PubMed Central

PubMed publication ID

14 October 2017

10

object named as

Bernard Brais

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Roberta La Piana

1

object named as

Roberta La Piana

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Europe PubMed Central

PubMed publication ID

14 October 2017

author name string

Woranontee Weraarpachai

2

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Europe PubMed Central

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14 October 2017

Luis H Ospina

3

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Europe PubMed Central

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14 October 2017

Martine Tetreault

4

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Europe PubMed Central

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14 October 2017

Jacek Majewski

5

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Europe PubMed Central

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14 October 2017

Care4Rare Canada Consortium

6

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Europe PubMed Central

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14 October 2017

G Bruce Pike

7

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Europe PubMed Central

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14 October 2017

Jean-Claude Decarie

8

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14 October 2017

Donatella Tampieri

9

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14 October 2017

Eric A Shoubridge

11

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14 October 2017

publication date

5 January 2017

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14 October 2017

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14 October 2017

18

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14 October 2017

2

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14 October 2017

97-103

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14 October 2017

Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency

1 reference

https://api.crossref.org/works/10.1007%2FS10048-016-0506-0

21 January 2018

Novel (ovario) leukodystrophy related to AARS2 mutations

1 reference

https://api.crossref.org/works/10.1007%2FS10048-016-0506-0

21 January 2018

VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies

1 reference

https://api.crossref.org/works/10.1007%2FS10048-016-0506-0

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/10.1007%2FS10048-016-0506-0

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10048-016-0506-0

21 January 2018

Mitochondrial translation and beyond: processes implicated in combined oxidative phosphorylation deficiencies

1 reference

https://api.crossref.org/works/10.1007%2FS10048-016-0506-0

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10048-016-0506-0

21 January 2018

Mammalian mitochondrial methionyl-tRNA transformylase from bovine liver. Purification, characterization, and gene structure.

1 reference

https://api.crossref.org/works/10.1007%2FS10048-016-0506-0

21 January 2018

Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation

1 reference

https://api.crossref.org/works/10.1007%2FS10048-016-0506-0

21 January 2018

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

1 reference

https://api.crossref.org/works/10.1007%2FS10048-016-0506-0

21 January 2018

Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT

1 reference

https://api.crossref.org/works/10.1007%2FS10048-016-0506-0

21 January 2018

Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening

1 reference

https://api.crossref.org/works/10.1007%2FS10048-016-0506-0

21 January 2018

An N-terminal formyl methionine on COX 1 is required for the assembly of cytochrome c oxidase.

1 reference

https://api.crossref.org/works/10.1007%2FS10048-016-0506-0

21 January 2018

Methionyl-tRNA Formyltransferase (MTFMT) Deficiency Mimicking Acquired Demyelinating Disease

1 reference

https://api.crossref.org/works/10.1007%2FS10048-016-0506-0

21 January 2018

Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency

1 reference

https://api.crossref.org/works/10.1007%2FS10048-016-0506-0

21 January 2018

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

1 reference

https://api.crossref.org/works/10.1007%2FS10048-016-0506-0

21 January 2018

A method and server for predicting damaging missense mutations

1 reference

https://api.crossref.org/works/10.1007%2FS10048-016-0506-0

21 January 2018

Biochemical characterization of pathogenic mutations in human mitochondrial methionyl-tRNA formyltransferase

1 reference

https://api.crossref.org/works/10.1007%2FS10048-016-0506-0

21 January 2018

Late-onset Leigh syndrome in a patient with mitochondrial complex I NDUFS8 mutations

1 reference

https://api.crossref.org/works/10.1007%2FS10048-016-0506-0

21 January 2018

Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome.

1 reference

https://api.crossref.org/works/10.1007%2FS10048-016-0506-0

21 January 2018

Whole Exome Sequencing Identifies the Genetic Basis of Late-Onset Leigh Syndrome in a Patient with MRI but Little Biochemical Evidence of a Mitochondrial Disorder

1 reference

https://api.crossref.org/works/10.1007%2FS10048-016-0506-0

21 January 2018

Clinical and neuropathological findings in patients with TACO1 mutations

1 reference

https://api.crossref.org/works/10.1007%2FS10048-016-0506-0

21 January 2018

White matter consequences of retinal receptor and ganglion cell damage.

1 reference

https://api.crossref.org/works/10.1007%2FS10048-016-0506-0

21 January 2018

Evidence for retrochiasmatic tissue loss in Leber's hereditary optic neuropathy

1 reference

https://api.crossref.org/works/10.1007%2FS10048-016-0506-0

21 January 2018

Radioactive labeling of mitochondrial translation products in cultured cells

1 reference

https://api.crossref.org/works/10.1007%2FS10048-016-0506-0

21 January 2018

Identifiers

10.1007/S10048-016-0506-0

1 reference

Europe PubMed Central

PubMed publication ID

14 October 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

14 October 2017

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