Polavarapu, Kiran
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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)
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