23 February 2023

Van Haute, Lindsey ORCID: 0000-0001-7809-1473, O’Connor, Emily, Díaz-Maldonado, Héctor, Munro, Benjamin, Polavarapu, Kiran ORCID: 0000-0002-8879-6001, Hock, Daniella H ORCID: 0000-0002-6940-4420, Arunachal, Gautham, Athanasiou-Fragkouli, Alkyoni, Bardhan, Mainak ORCID: 0000-0002-4106-409X, Barth, Magalie, Bonneau, Dominique, Brunetti-Pierri, Nicola ORCID: 0000-0002-6895-8819, Cappuccio, Gerarda, Caruana, Nikeisha ORCID: 0000-0002-0817-1686, Dominik, Natalia, Goel, Himanshu, Helman, Guy ORCID: 0000-0002-4784-7423, Houlden, Henry ORCID: 0000-0002-2866-7777, Lenaers, Guy ORCID: 0000-0003-2736-3349, Mention, Karine, Murphy, David, Nandeesh, Bevinahalli, Olimpio, Catarina, Powell, Christopher A, Preethish-Kumar, Veeramani, Procaccio, Vincent, Rius, Rocio ORCID: 0000-0002-9871-3126, Rebelo-Guiomar, Pedro ORCID: 0000-0002-5060-7519, Simons, Cas ORCID: 0000-0003-3147-8042, Vengalil, Seena ORCID: 0000-0002-0629-9221, Zaki, Maha S ORCID: 0000-0001-7840-0002, Ziegler, Alban, Thorburn, David ORCID: 0000-0002-7725-9470, Stroud, David A ORCID: 0000-0002-2048-3383, Maroofian, Reza, Christodoulou, John ORCID: 0000-0002-8431-0641, Gustafsson, Claes ORCID: 0000-0003-3531-8468, Nalini, Atchayaram, Lochmüller, Hanns, Minczuk, Michal ORCID: 0000-0001-8242-1420 and Horvath, Rita ORCID: 0000-0002-9841-170X (2023) TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease. Nature Communications, 14. ISSN 2041-1723

2024

Rybalka, Emma ORCID: 0000-0002-4854-0036, Park, Hyung Jun, Nalini, Atchayaram, Baskar, Dipti, Polavarapu, Kiran ORCID: 0000-0002-8879-6001, Durmus, Hacer, Xia, Yang, Wan, Linlin, Shieh, Perry B, Moghadaszadeh, Behzad ORCID: 0000-0001-9787-0106, Beggs, Alan H ORCID: 0000-0001-8818-0568, Mack, David L, Smith, Alec ST, Hanna-Rose, Wendy, Jinnah, Hyder, Timpani, Cara A, Shen, Min, Upadhyay, Jaymin, Brault, Jeffrey J, Hall, Matthew D, Baweja, Naveen and Kakkar, Priyanka (2024) Current insights in ultra-rare adenylosuccinate synthetase 1 myopathy – Meeting report on the First Clinical and Scientific Conference. 3 June 2024, National Centre for Advancing Translational Science, Rockville, Maryland, the United States of America. (Submitted)