Publication
Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder
Andrea Accogli, Sheng-Jia Lin, Mariasavina Severino, Sung-Hoon Kim, Kevin Huang, Clarissa Rocca, Megan Landsverk, Maha S. Zaki, Almundher Al-Maawali, Varunvenkat M. Srinivasan, Khalid Al-Thihli, G. Bradly Schaefer, Monica Davis, Davide Tonduti, Chiara Doneda, Lara M. Marten, Chris Mühlhausen, Maria Gomez, Eleonora Lamantea, Rafael Mena, Mathilde Nizon, Vincent Procaccio, Amber Begtrup, Aida Telegrafi, Hong Cui, Heidi L. Schulz, Julia Mohr, Saskia Biskup, Mariana Amina Loos, Hilda Verónica Aráoz, Vincenzo Salpietro, Laura Davis Keppen, Manali Chitre, Cassidy Petree, Lucy Raymond, Julie Vogt, Lindsey B. Sawyer, Alice A. Basinger, Signe Vandal Pedersen, Toni S. Pearson, Dorothy K. Grange, Lokesh Lingappa, Paige McDunnah, Rita Horvath, Benjamin Cognè, Bertrand Isidor, Andreas Hahn, Karen W. Gripp, Seyed Mehdi Jafarnejad, Elsebet Østergaard, Carlos E. Prada, Daniele Ghezzi, Vykuntaraju K. Gowda, Robert W. Taylor, Nahum Sonenberg, Henry Houlden, Marie Sissler, Gaurav K. Varshney, Reza Maroofian
Genetics in Medicine, November 2023, Elsevier
DOI: 10.1016/j.gim.2023.100938