(Q73362015)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12734542%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

title

Congenital cataract as the first symptom of a neuromuscular disease caused by a novel single large-scale mitochondrial DNA deletion (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12734542%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

main subject

neuromuscular disease

1 reference

Judit Bene

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12734542%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

Edit Nádasi

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12734542%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

György Kosztolányi

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12734542%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

Károly Méhes

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12734542%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

Béla Melegh

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12734542%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

publication date

1 May 2003

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12734542%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

3 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12734542%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

volume

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12734542%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12734542%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

page(s)

375-379

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12734542%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5200975

3 November 2019

exact match

0 references

cites work

Congenital cataract and multisystem disorders

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200975

7 January 2021

Lens biology: development and human cataractogenesis

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200975

7 January 2021

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200975

1 reference

7 January 2021

Congenital cataracts: gene mapping

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200975

7 January 2021

Visual impairment and blindness in Europe and their prevention

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200975

7 January 2021

Ascertainment of children with congenital cataract through the National Congenital Anomaly System in England and Wales.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200975

7 January 2021

Aetiology of congenital and paediatric cataract in an Australian population

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200975

7 January 2021

Mutations in mtDNA: are we scraping the bottom of the barrel?

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200975

7 January 2021

Lessons from mitochondrial DNA mutations

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200975

7 January 2021

Mitochondrial disorders

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200975

7 January 2021

Maternal germ-line transmission of mutant mtDNAs from embryonic stem cell-derived chimeric mice.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200975

7 January 2021

Cytochrome oxidase deficiency affecting the structure of the myofibre and the shape of mitochondrial cristae membrane

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200975

7 January 2021

Muscle carnitine acetyltransferase and carnitine deficiency in a case of mitochondrial encephalomyopathy

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200975

7 January 2021

Mitochondrial encephalomyopathy associated with a single nucleotide pair deletion in the mitochondrial tRNALeu(UUR) gene

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200975

7 January 2021

Anticipation of autosomal dominant progressive external ophthalmoplegia with hypogonadism.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200975

7 January 2021

Congenital cataract and mitochondrial myopathy of skeletal and heart muscle associated with lactic acidosis after exercise

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200975

7 January 2021

Congenital cardiomyopathy and cataracts with lactic acidosis

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200975

7 January 2021

Leigh syndrome: clinical features and biochemical and DNA abnormalities.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200975

7 January 2021

Leigh-type neuropathology in Pearson syndrome associated with impaired ATP production and a novel mtDNA deletion

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200975

7 January 2021

Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200975

7 January 2021

New insights into the metabolic consequences of large-scale mtDNA deletions: a quantitative analysis of biochemical, morphological, and genetic findings in human skeletal muscle

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200975

7 January 2021

The association between haematological manifestation and mtDNA deletions in Pearson syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200975

7 January 2021

Severe lactic acidosis and neonatal death in Pearson syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200975

7 January 2021

Retinal manifestations in mitochondrial diseases associated with mitochondrial DNA mutation

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200975

7 January 2021

Neuropathology in Kearns-Sayre syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200975

7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5200975

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12734542%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

1 reference