Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder

Author:

Accogli Andrea,Lin Sheng-Jia,Severino Mariasavina,Kim Sung-Hoon,Huang Kevin,Rocca Clarissa,Landsverk Megan,Zaki Maha S.,Al-Maawali Almundher,Srinivasan Varunvenkat M.,Al-Thihli Khalid,Schaefer G. Bradly,Davis Monica,Tonduti Davide,Doneda Chiara,Marten Lara M.,Mühlhausen Chris,Gomez Maria,Lamantea Eleonora,Mena Rafael,Nizon Mathilde,Procaccio Vincent,Begtrup Amber,Telegrafi Aida,Cui Hong,Schulz Heidi L.,Mohr Julia,Biskup Saskia,Loos Mariana Amina,Aráoz Hilda Verónica,Salpietro Vincenzo,Keppen Laura Davis,Chitre Manali,Petree Cassidy,Raymond Lucy,Vogt Julie,Sawyer Lindsey B.,Basinger Alice A.,Pedersen Signe Vandal,Pearson Toni S.,Grange Dorothy K.,Lingappa Lokesh,McDunnah Paige,Horvath Rita,Cognè Benjamin,Isidor Bertrand,Hahn Andreas,Gripp Karen W.,Jafarnejad Seyed Mehdi,Østergaard Elsebet,Prada Carlos E.,Ghezzi Daniele,Gowda Vykuntaraju K.,Taylor Robert W.,Sonenberg Nahum,Houlden Henry,Sissler Marie,Varshney Gaurav K.ORCID,Maroofian Reza

Publisher

Elsevier BV

Subject

Genetics (clinical)

Reference34 articles.

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2. Mitochondrial aminoacyl-tRNA synthetase and disease: the yeast contribution for functional analysis of novel variants;Figuccia;Int J Mol Sci,2021

3. The role of tRNA synthetases in neurological and neuromuscular disorders;Boczonadi;FEBS Lett,2018

4. Mitochondrial aminoacyl-tRNA synthetase disorders: an emerging group of developmental disorders of myelination;Fine;J Neurodev Disord,2019

5. Recent advances in mitochondrial aminoacyl-tRNA synthetases and disease;Sissler;Trends Mol Med,2017

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