(Q57588426)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10899453%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

title

A novel SURF1 mutation results in Leigh syndrome with peripheral neuropathy caused by cytochrome c oxidase deficiency (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10899453%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

main subject

peripheral neuropathy

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10899453%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

Rosalba Carrozzo

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10899453%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

Fiorella Piemonte

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10899453%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

Enrico Bertini

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10899453%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

Filippo Maria Santorelli

object named as

F M Santorelli

10

1 reference

ORCID Public Data File 2021

author name string

A Malandrini

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10899453%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

C Patrono

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10899453%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

M Villanova

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10899453%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

A Tessa

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10899453%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

S Palmeri

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10899453%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

publication date

1 August 2000

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10899453%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

published in

Neuromuscular Disorders

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10899453%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

volume

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10899453%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10899453%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

page(s)

450-453

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10899453%20AND%20SRC:MED&resulttype=core&format=json

Subacute necrotizing encephalomyelopathy in an infant

8 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900122-4

7 January 2021

Genetic heterogeneity in Leigh syndrome.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900122-4

7 January 2021

SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900122-4

7 January 2021

Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900122-4

7 January 2021

SHY1, the yeast homolog of the mammalian SURF-1 gene, encodes a mitochondrial protein required for respiration

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900122-4

7 January 2021

Cytochrome c oxidase deficiency in Leigh syndrome.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900122-4

7 January 2021

Measurement of totally activated pyruvate dehydrogenase complex activity in human muscle: evaluation of a useful assay

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900122-4

7 January 2021

Congenital Leigh's disease: Panencephalomyelopathy and peripheral neuropathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900122-4

7 January 2021

Sural nerve biopsy studies in Leigh's subacute necrotizing encephalomyelopathy.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900122-4

7 January 2021

Peripheral neuropathy in Leigh's disease.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900122-4

7 January 2021

The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900122-4

7 January 2021

The Surf-1 and Surf-2 genes and their essential bidirectional promoter elements are conserved between mouse and human

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900122-4

7 January 2021

10.1016/S0960-8966(99)00122-4

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10899453%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

1 reference