Leigh syndrome: One disorder, more than 75 monogenic causes-Reference-Cited by-同舟云学术

Leigh syndrome: One disorder, more than 75 monogenic causes

Published:2015-12-15 Issue:2 Volume:79 Page:190-203
ISSN:0364-5134
Container-title:Annals of Neurology
language:en
Short-container-title:Ann Neurol.

Author:

Lake Nicole J.¹²,Compton Alison G.¹²,Rahman Shamima³,Thorburn David R.¹²⁴

Affiliation:

1. Murdoch Childrens Research Institute, Royal Children's Hospital; Melbourne Victoria Australia

2. Department of Paediatrics; University of Melbourne; Melbourne Victoria Australia

3. Mitochondrial Research Group, Genetics and Genomic Medicine, Institute of Child Health, University College London and Metabolic Unit, Great Ormond Street Hospital; London United Kingdom

4. Victorian Clinical Genetic Services, Royal Children's Hospital; Melbourne Victoria Australia

Funder

Australian National Health and Medical Research Council

Australian Mitochondrial Disease Foundation

NHMRC Principal Research Fellowship

Australian Postgraduate Award

Victorian Government's Operational Infrastructure Support Program

Great Ormond Street Hospital Children's Charity

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Reference116 articles.

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4. Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations;Ostergaard;Brain,2007

5. Mitochondrial encephalopathies: molecular genetic diagnosis from blood samples;Hammans;Lancet,1991

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