(Q47205340)

11 January 2018

title

Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults (English)

1 reference

11 January 2018

Alessia Nasca

2

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Dominique Bonneau

Dominique Bonneau

27

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Pascal Reynier

Pascal Reynier

28

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Holger Prokisch

Holger Prokisch

19

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Andrea Legati

Andrea Legati

9

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Josseline Kaplan

Josseline Kaplan

23

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Michael Simpson

Michael A Simpson

32

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Eleonora Lamantea

Eleonora Lamantea

12

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Vincent Procaccio

Vincent Procaccio

26

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Isabella Moroni

15

Isabella Moroni

1 reference

11 January 2018

Robert William Taylor

39

Robert W Taylor

1 reference

11 January 2018

Majida Charif

1

Majida Charif

1 reference

11 January 2018

Guy Lenaers

42

Guy Lenaers

1 reference

11 January 2018

Patrizia Amati-Bonneau

41

Patrizia Amati-Bonneau

1 reference

11 January 2018

Céline Bris

7

Céline Bris

1 reference

11 January 2018

David Goudenège

8

David Goudenège

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11 January 2018

author name string

Kyle Thompson

3

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11 January 2018

Sylvie Gerber

4

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11 January 2018

Christine Makowski

5

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11 January 2018

Neda Mazaheri

6

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11 January 2018

Reza Maroofian

10

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11 January 2018

Gholamreza Shariati

11

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11 January 2018

Sila Hopton

13

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11 January 2018

Anna Ardissone

14

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11 January 2018

Melania Giannotta

16

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11 January 2018

Corinna Siegel

17

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11 January 2018

Tim M Strom

18

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11 January 2018

Catherine Vignal-Clermont

20

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11 January 2018

Sabine Derrien

21

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11 January 2018

Xavier Zanlonghi

22

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11 January 2018

Christian P Hamel

24

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11 January 2018

Stephanie Leruez

25

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11 January 2018

Frances E White

29

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11 January 2018

Steven A Hardy

30

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11 January 2018

Inês A Barbosa

31

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11 January 2018

Roshni Vara

33

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11 January 2018

Yaumara Perdomo Trujillo

34

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11 January 2018

Hamind Galehdari

35

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11 January 2018

Charu Deshpande

36

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11 January 2018

Tobias B Haack

37

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11 January 2018

Jean-Michel Rozet

38

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11 January 2018

Daniele Ghezzi

40

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11 January 2018

language of work or name

English

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publication date

27 November 2017

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11 January 2018

published in

JAMA Neurology

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11 January 2018

volume

75

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11 January 2018

issue

1

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11 January 2018

page(s)

105-113

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11 January 2018

Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5833489

A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5833489

New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5833489

Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5833489

A novel mutation of AFG3L2 might cause dominant optic atrophy in patients with mild intellectual disability.

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5833489

A novel immunofluorescent assay to investigate oxidative phosphorylation deficiency in mitochondrial myopathy: understanding mechanisms and improving diagnosis.

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5833489

Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability.

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5833489

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5833489

Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy.

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5833489

Improved locus-specific database for OPA1 mutations allows inclusion of advanced clinical data.

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5833489

World Medical Association Declaration of Helsinki: ethical principles for medical research involving human subjects

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5833489

Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5833489

Complex I deficiency: clinical features, biochemistry and molecular genetics

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5833489

26 August 2018

Dominant optic atrophy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5833489

The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy 'plus' phenotype.

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5833489

TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5833489

Clinical and molecular findings in children with complex I deficiency

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5833489

Identification and characterization of a novel Nogo-interacting mitochondrial protein (NIMP)

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5833489

Clinical spectrum and diagnosis of mitochondrial disorders

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5833489

A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5833489

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5833489

1 December 2018

Mitochondrial diseases

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/29181510

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1001/JAMANEUROL.2017.2065

1 reference

11 January 2018

0 references

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11 January 2018