Literature DB >> 23008233

Multisystem fatal infantile disease caused by a novel homozygous EARS2 mutation.

Beril Talim, Angela Pyle, Helen Griffin, Haluk Topaloglu, Aysegul Tokatli, Michael J Keogh, Mauro Santibanez-Koref, Patrick F Chinnery, Rita Horvath.   

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Year:  2012        PMID： 23008233     DOI： 10.1093/brain/aws197

Source DB:  PubMed          Journal:  Brain        ISSN： 0006-8950            Impact factor:   13.501


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  21 in total

Review 1.  Evolutionary conservation and expression of human RNA-binding proteins and their role in human genetic disease.

Authors:  Stefanie Gerstberger; Markus Hafner; Manuel Ascano; Thomas Tuschl
Journal:  Adv Exp Med Biol       Date:  2014       Impact factor: 2.622

2.  Expanding the Clinical and Magnetic Resonance Spectrum of Leukoencephalopathy with Thalamus and Brainstem Involvement and High Lactate (LTBL) in a Patient Harboring a Novel EARS2 Mutation.

Authors:  Roberta Biancheri; Eleonora Lamantea; Mariasavina Severino; Daria Diodato; Marina Pedemonte; Denise Cassandrini; Alexandra Ploederl; Federica Trucco; Chiara Fiorillo; Carlo Minetti; Filippo M Santorelli; Massimo Zeviani; Claudio Bruno
Journal:  JIMD Rep       Date:  2015-04-09

Review 3.  Predicting the pathogenicity of aminoacyl-tRNA synthetase mutations.

Authors:  Stephanie N Oprescu; Laurie B Griffin; Asim A Beg; Anthony Antonellis
Journal:  Methods       Date:  2016-11-20       Impact factor: 3.608

Review 4.  Reversible infantile mitochondrial diseases.

Authors:  Veronika Boczonadi; Boglarka Bansagi; Rita Horvath
Journal:  J Inherit Metab Dis       Date:  2014-11-19       Impact factor: 4.982

Review 5.  Human aminoacyl-tRNA synthetases in diseases of the nervous system.

Authors:  Jana Ognjenović; Miljan Simonović
Journal:  RNA Biol       Date:  2017-06-30       Impact factor: 4.652

6.  EARS2 mutations cause fatal neonatal lactic acidosis, recurrent hypoglycemia and agenesis of corpus callosum.

Authors:  Katharina Danhauser; Tobias B Haack; Bader Alhaddad; Marlen Melcher; Annette Seibt; Tim M Strom; Thomas Meitinger; Dirk Klee; Ertan Mayatepek; Holger Prokisch; Felix Distelmaier
Journal:  Metab Brain Dis       Date:  2016-01-16       Impact factor: 3.584

7.  Early-Onset Mild Type Leukoencephalopathy Caused by a Homozygous EARS2 Mutation.

Authors:  Birce Dilge Taskin; Zeynep Selen Karalok; Esra Gurkas; Kursad Aydin; Ummu Aydogmus; Serdar Ceylaner; Kadri Karaer; Cahide Yilmaz; Phillip Lawrence Pearl
Journal:  J Child Neurol       Date:  2016-02-18       Impact factor: 1.987

Review 8.  When a common biological role does not imply common disease outcomes: Disparate pathology linked to human mitochondrial aminoacyl-tRNA synthetases.

Authors:  Ligia Elena González-Serrano; Joseph W Chihade; Marie Sissler
Journal:  J Biol Chem       Date:  2019-01-15       Impact factor: 5.157

Review 9.  Gastrointestinal and hepatic manifestations of mitochondrial disorders.

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

Review 10.  Ubiquitously Expressed Proteins and Restricted Phenotypes: Exploring Cell-Specific Sensitivities to Impaired tRNA Charging.

Authors:  Molly E Kuo; Anthony Antonellis
Journal:  Trends Genet       Date:  2019-12-12       Impact factor: 11.639
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