(Q33614160)

28 July 2017

A multicenter study on Leigh syndrome: disease course and predictors of survival (English)

1 reference

multicenter clinical trial

28 July 2017

0 references

Charalampos Tzoulis

7

0 references

Laurence Bindoff

object named as

Laurence A Bindoff

13

0 references

author name string

Kalliopi Sofou

1

1 reference

28 July 2017

Irenaeus F M De Coo

2

1 reference

28 July 2017

Pirjo Isohanni

3

1 reference

28 July 2017

Elsebet Ostergaard

4

1 reference

28 July 2017

Karin Naess

5

1 reference

28 July 2017

Linda De Meirleir

6

1 reference

28 July 2017

Johanna Uusimaa

8

1 reference

28 July 2017

Isabell B De Angst

9

1 reference

28 July 2017

Tuula Lönnqvist

10

1 reference

28 July 2017

Helena Pihko

11

1 reference

28 July 2017

Katariina Mankinen

12

1 reference

28 July 2017

Már Tulinius

14

1 reference

28 July 2017

Niklas Darin

15

1 reference

28 July 2017

15 April 2014

1 reference

Orphanet Journal of Rare Diseases

28 July 2017

1 reference

28 July 2017

9

1 reference

28 July 2017

52

1 reference

https://scigraph.springernature.com/pub.10.1186/1750-1172-9-52

28 July 2017

0 references

cites work

SURF1 deficiency: a multi-centre natural history study.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021638

Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021638

Late-adult onset Leigh syndrome.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021638

Definition of drug resistant epilepsy: consensus proposal by the ad hoc Task Force of the ILAE Commission on Therapeutic Strategies

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021638

Neuroimaging of mitochondrial disease.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021638

Acute infantile bilateral striatal necrosis: single-photon emission computed tomography (SPECT) imaging and review

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021638

Molecular genetic and clinical aspects of mitochondrial disorders in childhood

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021638

Atypical presentations of leigh syndrome: a case series and review

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021638

Subacute necrotizing encephalomyelopathy in an infant

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021638

Antenatal manifestations of mitochondrial respiratory chain deficiency

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021638

Cardiomyopathy in children with mitochondrial disease; clinical course and cardiological findings

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021638

The incidence of mitochondrial encephalomyopathies in childhood: clinical features and morphological, biochemical, and DNA abnormalities

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021638

Subacute necrotizing encephalomyelopathy. A review and a study of two families

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021638

Leigh syndrome: clinical features and biochemical and DNA abnormalities.

21 June 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-9-52

MRI of the brain in childhood-onset mitochondrial disorders with central nervous system involvement

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-9-52

Getting to the nucleus of mitochondrial disorders: identification of respiratory chain-enzyme genes causing Leigh syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-9-52

Remarkable improvement in adult Leigh syndrome with partial cytochrome c oxidase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-9-52

Molecular genetic characterization of an X-linked form of Leigh's syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-9-52

Leigh syndrome: clinical and neuroimaging follow-up

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-9-52

MtDNA mutations are a common cause of severe disease phenotypes in children with Leigh syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-9-52

Leigh disease presenting in utero due to a novel missense mutation in the mitochondrial DNA-ND3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-9-52

Intracerebral periventricular pseudocysts in a fetus with mitochondrial depletion syndrome: an association or coincidence.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-9-52

Diffusion-weighted imaging in preclinical Leigh syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-9-52

LRPPRC mutations cause a phenotypically distinct form of Leigh syndrome with cytochrome c oxidase deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-9-52

Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021638

Clinical and laboratory survey of 65 Chinese patients with Leigh syndrome.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021638

Leigh syndrome: serial MR imaging and clinical follow-up

30 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24731534

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

SURF1-associated Leigh syndrome: a case series and novel mutations

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24731534

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Homozygous missense mutation of NDUFV1 as the cause of infantile bilateral striatal necrosis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24731534

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1750-1172-9-52

1 reference

Dimensions Publication ID

28 July 2017

0 references

1 reference

28 July 2017

1 reference