Recessive mutations in NDUFA2 cause mitochondrial leukoencephalopathy-Reference-Cited by-同舟云学术

Recessive mutations in NDUFA2 cause mitochondrial leukoencephalopathy

Published:2017-12-21 Issue:2 Volume:93 Page:396-400
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Perrier S.¹^ORCID,Gauquelin L.¹²,Tétreault M.³⁴,Tran L.T.¹²⁵⁶,Webb N.³⁷⁸,Srour M.¹²⁶,Mitchell J.J.²⁵,Brunel-Guitton C.⁷,Majewski J.³⁴,Long V.⁹,Keller S.¹⁰,Gambello M.J.⁹,Simons C.¹¹,Vanderver A.¹²¹³,Bernard G.¹²⁵⁶,

Affiliation:

1. Department of Neurology and Neurosurgery; McGill University; Montreal Canada

2. Department of Pediatrics; McGill University; Montreal Canada

3. Department of Human Genetics; McGill University; Montreal Canada

4. McGill University and Genome Quebec Innovation Centre; Montreal Canada

5. Department of Medical Genetics, Montreal Children's Hospital; McGill University Health Center; Montreal Canada

6. Child Health and Human Development Program; Research Institute of the McGill University Health Centre; Montreal Canada

7. Division of Medical Genetics, Department of Pediatrics; CHU Sainte-Justine and Université de Montréal; Montreal Canada

8. Montreal Neurological Institute; McGill University; Montreal Canada

9. Department of Human Genetics, Division of Medical Genetics; Emory University School of Medicine; Atlanta Georgia

10. Department of Pediatrics, Division of Pediatric Neurology; Emory University School of Medicine; Atlanta Georgia

11. Institute for Molecular Bioscience; The University of Queensland; St. Lucia Australia

12. Department of Neurology, Perelman School of Medicine; University of Pennsylvania; Philadelphia Pennsylvania

13. Division of Neurology; Children's Hospital of Philadelphia; Philadelphia Pennsylvania

Funder

Genome Canada

Canadian Institutes of Health Research

Ontario Genomics Institute

Ontario Research Fund

Génome Québec

Children's Hospital of Eastern Ontario Foundation

Fondation Leuco Dystrophies

MitoCanada

Fondation les Amis d'Eliott

Réseau de Médecine Génétique Appliquée

McGill University

Research Institute of the McGill University Health Centre

Harpur Foundation

Fonds de Recherche du Québec en Santé; Kamens Family

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.13126/fullpdf

Reference15 articles.

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4. Human mitochondrial complex 1 assembly: a dynamic and versatile process;Vogel;Biochim Biophys Acta,2007

5. Mitochondrial complex I: structure, function and pathology;Janssen;J Inherit Metab Dis,2006

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