(Q48272670)

10 February 2018

title

SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness. (English)

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10 February 2018

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1

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10 February 2018

Enrico Bertini

7

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10 February 2018

Barbara Franke

8

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10 February 2018

Fiorella Piemonte

12

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10 February 2018

Richard J Rodenburg

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10 February 2018

Ron A. Wevers

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10 February 2018

Simona Lucioli

object named as

Simona Lucioli

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Carlo Dionisi-Vici

object named as

Carlo Dionisi-Vici

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Filippo Maria Santorelli

15

object named as

Filippo M Santorelli

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10 February 2018

author name string

Ulrike Steuerwald

3

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10 February 2018

Federica Deodato

5

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10 February 2018

Sivia Di Giandomenico

6

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10 February 2018

Leo A J Kluijtmans

9

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10 February 2018

Maria Chiara Meschini

10

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10 February 2018

Cristiano Rizzo

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10 February 2018

René Santer

14

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10 February 2018

Arno van Rooij

16

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10 February 2018

Diana Vermunt-de Koning

17

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10 February 2018

Eva Morava

18

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10 February 2018

language of work or name

English

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publication date

14 February 2007

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10 February 2018

published in

Brain

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10 February 2018

volume

130

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10 February 2018

issue

Pt 3

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10 February 2018

page(s)

862-874

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10 February 2018

A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria

cites work

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWL389

Mutation analysis in 16 patients with mtDNA depletion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWL389

Cytochrome c oxidase deficiency in Leigh syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWL389

Homozygous nonsense mutation in the MCEE gene and siRNA suppression of methylmalonyl-CoA epimerase expression: a novel cause of mild methylmalonic aciduria

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWL389

The Dor Yeshorim story: community-based carrier screening for Tay-Sachs disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWL389

Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWL389

Characterization of the ATP- and GTP-specific succinyl-CoA synthetases in pigeon. The enzymes incorporate the same alpha-subunit

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWL389

Expression of two succinyl-CoA synthetases with different nucleotide specificities in mammalian tissues

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWL389

MRI and 1H-MRS findings in early-onset cobalamin C/D defect.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWL389

Validation of an ESI-MS/MS screening method for acylcarnitine profiling in urine specimens of neonates, children, adolescents and adults

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWL389

Disorders of pyruvate metabolism and the tricarboxylic acid cycle.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWL389

Characteristic acylcarnitine profiles in inherited defects of peroxisome biogenesis: a novel tool for screening diagnosis using tandem mass spectrometry

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWL389

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWL389

Infantile mitochondrial DNA depletion syndrome associated with methylmalonic aciduria and 3‐methylcrotonyl‐CoA and propionyl‐CoA carboxylase deficiencies in two unrelated patients: A new phenotype of mtDNA depletion syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWL389

21 January 2018

Mitochondrial disorders

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWL389

21 January 2018

Identifiers

DOI

10.1093/BRAIN/AWL389

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10 February 2018

PubMed ID

17301081

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10 February 2018