Literature DB >> 21111623

175th ENMC International Workshop: Mitochondrial protein synthesis in health and disease, 25-27th June 2010, Naarden, The Netherlands.

Z M A Chrzanowska-Lightowlers1, R Horvath, R N Lightowlers.   

Abstract

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Year:  2010        PMID： 21111623     DOI： 10.1016/j.nmd.2010.10.005

Source DB:  PubMed          Journal:  Neuromuscul Disord        ISSN： 0960-8966            Impact factor:   4.296


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  15 in total

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2.  Mitochondrial encephalomyopathies--fifty years on: the Robert Wartenberg Lecture.

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Review 3.  Reversible infantile mitochondrial diseases.

Authors:  Veronika Boczonadi; Boglarka Bansagi; Rita Horvath
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4.  Mitochondrial disease--an important cause of end-stage renal failure.

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Journal:  Pediatr Nephrol       Date:  2012-12-12       Impact factor: 3.714

5.  Truncation of the Mrp20 protein reveals new ribosome-assembly subcomplex in mitochondria.

Authors:  Jasvinder Kaur; Rosemary A Stuart
Journal:  EMBO Rep       Date:  2011-09-01       Impact factor: 8.807

Review 6.  Gastrointestinal and hepatic manifestations of mitochondrial disorders.

Authors:  Shamima Rahman
Journal:  J Inherit Metab Dis       Date:  2013-05-15       Impact factor: 4.982

7.  Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients.

Authors:  Denise Cassandrini; Maria Roberta Cilio; Marzia Bianchi; Mara Doimo; Martina Balestri; Alessandra Tessa; Teresa Rizza; Geppo Sartori; Maria Chiara Meschini; Claudia Nesti; Giulia Tozzi; Vittoria Petruzzella; Fiorella Piemonte; Luigi Bisceglia; Claudio Bruno; Carlo Dionisi-Vici; Adele D'Amico; Fabiana Fattori; Rosalba Carrozzo; Leonardo Salviati; Filippo M Santorelli; Enrico Bertini
Journal:  J Inherit Metab Dis       Date:  2012-05-08       Impact factor: 4.982

Review 8.  Mitochondria: impaired mitochondrial translation in human disease.

Authors:  Veronika Boczonadi; Rita Horvath
Journal:  Int J Biochem Cell Biol       Date:  2014-01-08       Impact factor: 5.085

9.  Mutations in mitochondrial ribosomal protein MRPL12 leads to growth retardation, neurological deterioration and mitochondrial translation deficiency.

Authors:  Valérie Serre; Agata Rozanska; Marine Beinat; Dominique Chretien; Nathalie Boddaert; Arnold Munnich; Agnès Rötig; Zofia M Chrzanowska-Lightowlers
Journal:  Biochim Biophys Acta       Date:  2013-04-18

10.  Altered 2-thiouridylation impairs mitochondrial translation in reversible infantile respiratory chain deficiency.

Authors:  Veronika Boczonadi; Paul M Smith; Angela Pyle; Aurora Gomez-Duran; Ulrike Schara; Mar Tulinius; Patrick F Chinnery; Rita Horvath
Journal:  Hum Mol Genet       Date:  2013-06-28       Impact factor: 6.150
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