VARS2andTARS2Mutations in Patients with Mitochondrial Encephalomyopathies-Reference-Cited by-同舟云学术

VARS2andTARS2Mutations in Patients with Mitochondrial Encephalomyopathies

Published:2014-06-24 Issue:8 Volume:35 Page:983-989
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Diodato Daria¹,Melchionda Laura¹,Haack Tobias B.²³,Dallabona Cristina⁴,Baruffini Enrico⁴,Donnini Claudia⁴,Granata Tiziana⁵,Ragona Francesca⁵,Balestri Paolo⁶,Margollicci Maria⁶,Lamantea Eleonora¹,Nasca Alessia¹,Powell Christopher A.⁷,Minczuk Michal⁷,Strom Tim M.²³,Meitinger Thomas²³,Prokisch Holger²³,Lamperti Costanza¹,Zeviani Massimo¹⁷,Ghezzi Daniele¹^ORCID

Affiliation:

1. Unit of Molecular Neurogenetics; Fondazione IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Istituto Neurologico “Carlo Besta”; Milan Italy

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

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

4. Department of Life Sciences; University of Parma; Parma Italy

5. Unit of Child Neurology; Fondazione IRCCS Istituto Neurologico “Carlo Besta”; Milan Italy

6. Department of Pediatrics; University of Siena; Siena Italy

7. MRC Mitochondrial Biology Unit; Cambridge United Kingdom

Funder

Fondazione Telethon

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22590/fullpdf

Reference26 articles.

1. Evaluation of the mitochondrial respiratory chain and oxidative phosphorylation system using polarography and spectrophotometric enzyme assays;Barrientos;Curr Protoc Hum Genet,2009

2. Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans;Bayat;PLoS Biol,2012

3. Clinical and molecular findings in children with complex I deficiency;Bugiani;Biochim Biophys Acta,2004

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

5. Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia;Edvardson;Am J Hum Genet,2007

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