Biallelic variants inWARS2encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy-Reference-Cited by-同舟云学术

Biallelic variants inWARS2encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy

Published:2017-10-06 Issue:12 Volume:38 Page:1786-1795
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Wortmann Saskia B.¹²³^ORCID,Timal Sharita⁴⁵,Venselaar Hanka⁶,Wintjes Liesbeth T.⁴,Kopajtich Robert²,Feichtinger René G.¹,Onnekink Carla⁷⁸,Mühlmeister Mareike⁴,Brandt Ulrich⁴,Smeitink Jan A.⁴,Veltman Joris A.⁹¹⁰,Sperl Wolfgang¹,Lefeber Dirk⁵,Pruijn Ger⁷⁸,Stojanovic Vesna¹¹¹²,Freisinger Peter¹³,v Spronsen Francjan¹⁴,Derks Terry GJ¹⁴,Veenstra-Knol Hermine E.¹⁵,Mayr Johannes A¹,Rötig Agnes¹⁶,Tarnopolsky Mark¹⁷,Prokisch Holger²³,Rodenburg Richard J.⁴

Affiliation:

1. Department of Pediatrics; Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU); Salzburg Austria

2. Institute of Human Genetics; Helmholtz Zentrum Munich; Neuherberg Germany

3. Institute of Human Genetics; Technische Universität München; Munich Germany

4. Department of Pediatrics; Radboud Center for Mitochondrial Medicine; Radboud University Medical Center; Nijmegen The Netherlands

5. Department of Neurology; Donders Center for Brain, Cognition, and Behavior, Translational Metabolic Laboratory; Radboud University Medical Center; Nijmegen The Netherlands

6. Center for Molecular and Biomolecular Informatics; Radboud Institute for Molecular Life Sciences; Radboud University Medical Center; Nijmegen The Netherlands

7. Department of Biomolecular Chemistry; Radboud Institute for Molecular Life Sciences; Nijmegen The Netherlands

8. Department of Biomolecular Chemistry; Institute for Molecules and Materials; Radboud University Medical Center; Nijmegen The Netherlands

9. Department of Human Genetics; Radboud Institute for Molecular Life Sciences; Nijmegen The Netherlands

10. Institute of Genetic Medicine, International Centre for Life; Newcastle University; Newcastle upon Tyne United Kingdom

11. School of Medicine; University of Novi Sad; Novi Sad Serbia

12. Institute for Child and Youth Health Care of Vojvodina; Intensive Care Unit; Novi Sad Serbia

13. Children's Hospital; Klinikum am Steinenberg; Reutlingen Germany

14. Division of Metabolic Diseases; Beatrix Children's Hospital; University of Groningen, University Medical Center of Groningen; Groningen the Netherlands

15. Department of Genetics; University of Groningen, University Medical Center of Groningen; Groningen the Netherlands

16. INSERM U1163; Université Paris Descartes - Sorbonne Paris Cité; Institut Imagine; Paris France

17. Department of Pediatrics; Division of Neuromuscular and Neurometabolic Diseases; McMaster University Medical Center; Hamilton Ontario Canada

Funder

E-Rare Project

Austrian Science Fund

EC FP7-PEOPLE-ITN

Verein zur Förderung und Forschung der Pädiatrie Salzburg

Radboud Universitair Medisch Centrum

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference26 articles.

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2. Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency;Almalki;Biochimica et Biophysica Acta,2014

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4. Novel (ovario) leukodystrophy related to AARS2 mutations;Dallabona;Neurology,2014

5. VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies;Diodato;Human Mutation,2014

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