(Q48598189)

13 February 2018

title

A novel mutation in the SURF1 gene in a child with Leigh disease, peripheral neuropathy, and cytochrome-c oxidase deficiency. (English)

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13 February 2018

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peripheral neuropathy

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3

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13 February 2018

Andrea Rossi

object named as

Andrea Rossi

5

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Massimo Zeviani

9

object named as

Massimo Zeviani

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13 February 2018

author name string

Claudio Bruno

1

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13 February 2018

Roberta Biancheri

2

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13 February 2018

Claudia Biedi

4

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13 February 2018

Laura Doria Lamba

6

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13 February 2018

Massimo Bado

7

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13 February 2018

Marilena Greco

8

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13 February 2018

Carlo Minetti

10

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13 February 2018

publication date

1 March 2002

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13 February 2018

Journal of Child Neurology

published in

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13 February 2018

volume

17

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13 February 2018

issue

3

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13 February 2018

page(s)

233-236

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13 February 2018

Subacute necrotizing encephalomyelopathy in an infant

cites work

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https://api.crossref.org/works/10.1177%2F088307380201700318

Does the patient have a mitochondrial encephalomyopathy?

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700318

Leigh syndrome: clinical features and biochemical and DNA abnormalities.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700318

Genetic heterogeneity in Leigh syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700318

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700318

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700318

Nuclear DNA origin of cytochrome c oxidase deficiency in Leigh's syndrome: genetic evidence based on patient's-derived rho degrees transformants

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700318

Cytochrome c oxidase deficiency in Leigh syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700318

G8363A mutation in the mitochondrial DNA transfer ribonucleic acidLys gene: another cause of Leigh syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700318

Characterization of SURF-1 expression and Surf-1p function in normal and disease conditions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700318

Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700318

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700318

New splicing-site mutations in the SURF1 gene in Leigh syndrome patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700318

Congenital Leigh's disease: Panencephalomyelopathy and peripheral neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700318

Leigh syndrome: pyruvate dehydrogenase defect. A case with peripheral neuropathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700318

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700318

Peripheral neuropathy in Leigh's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700318

Magnetic resonance imaging in lactic acidosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700318

A SURF1 gene mutation presenting as isolated leukodystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700318

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700318

10.1177/088307380201700318

21 January 2018

Identifiers

DOI

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13 February 2018

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13 February 2018