Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder
线粒体苏氨酰tRNA合成酶(TARS2)相关疾病的临床、神经放射学和分子特征
期刊:Genetics in Medicine
影响因子:6.2
doi:10.1016/j.gim.2023.100938
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; Maroofian, Reza