POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum

- Rossi, Alessandra, Blok, Lot Snijders, Alfieri, Paolo, Srivastava, Siddharth, Coulter, David, Smith, Lacey, Vinorum, Kristin, Cappuccio, Gerarda, Brunetti-Pierri, Nicola, Torun, Deniz, Arslan, Mutluay, Lauridsen, Mathilde F., Neuser, Sonja, Murch, Oliver, Irving, R, Lynch, SA, Mehta, SG, Carmichael, J, Zonneveld-Huijssoon, E, de Vries, B, Kleefstra, T, Johannesen, KM, Westphall, IT, Klöckner, Chiara, Hughes, SS, Smithson, S, Evans, J, Dudding-Byth, Tracy, Simon, M, van Binsbergen, E, Herkert, JC, Beunders, G, Oppermann, H, Bakal, M, Platzer, Konrad, Møller, RS, Rubboli, G, Bayat, A, Faivre, Laurence Olivier, Weigand, Heike, Dentici, Maria L., Tartaglia, Marco, Niceta, Marcello

TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease

- Van Haute, Lindsey, O’Connor, Emily, Bonneau, Dominique, Brunetti-Pierri, Nicola, Cappuccio, Gerarda, Caruana, NikeishaJ, Dominik, Natalia, Goel, Himanshu, Helman, Guy, Houlden, Henry, Lenaers, Guy, Mention, Karine, Díaz-Maldonado, Hector, Murphy, D, Nandeesh, B, Olimpio, C, Powell, CA, Preethish-Kumar, V, Procaccio, V, Rius, R, Rebelo-Guiomar, P, Simons, C, Vengalil, S, Munro, Benjamin, Zaki, MS, Ziegler, A, Thorburn, DR, Stroud, DA, Maroofian, R, Christodoulou, J, Gustafsson, C, Nalini, A, Lochmüller, H, Minczuk, M, Polavarapu, Kiran, Horvath, R, Hock, Daniella H., Arunachal, Gautham, Athanasiou-Fragkouli, Alkyoni, Bardhan, Mainak, Barth, Magalie

Long-Term Efficacy of T3 Analogue Triac in Children and Adults with MCT8 Deficiency: A Real-Life Retrospective Cohort Study

- van Geest, Ferdy S., Groeneweg, Stefan, Cappuccio, Gerarda, Chatterjee, Krishna, Chesover, Alexander D., Christian, Peter, Coutant, Régis, Craiu, Dana, Crock, Patricia, Dewey, Cheyenne, Dica, Alice, Dimitri, Paul, van den Akker, Erica L. T., Dubey, Rachana, Enderli, A, Fairchild, J, Gallichan, J, Garibaldi, LR, George, B, Hackenberg, A, Heinrich, B, Huynh, T, Klosowska, A, Bacos, Iuliu, Lawson-Yuen, A, Linder-Lucht, M, Lyons, G, Lora, FM, Moran, C, Muller, KE, Paone, L, Paul, PG, Polak, M, Porta, F, Barca, Diana, Reinauer, C, de Rijke, YB, Seckold, Rowen, Menevse, TS, Simm, P, Simon, A, Spada, M, Stoupa, A, Szeifert, L, Tonduti, D, van den Berg, Sjoerd A. A., van Toor, H, Turan, S, Vanderniet, Joel, de Waart, M, van der Wal, R, van der Walt, A, Van Wermeskerken, A-M, Wierzba, J, Zibordi, F, Zung, A, Bertini, Enrico, Peeters, RP, Visser, WE, Brunner, Doris, Brunetti-Pierri, Nicola, Cappa, Marco

Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study

- Groeneweg, Stefan, van Geest, Ferdy S., Brunetti-Pierri, Nicola, Bugiani, Marianna, Cappa, Marco, Cappuccio, Gerarda, Castellotti, Barbara, Castiglioni, Claudia, Chatterjee, Krishna, de Coo, Irenaeus F. M., Coutant, Régis, Craiu, Dana, Abaci, Ayhan, Crock, Patricia, DeGoede, C, Demir, K, Dica, A, Dimitri, P, Dolcetta-Capuzzo, A, Dremmen, MHG, Dubey, R, Enderli, A, Fairchild, J, Alcantud, Alberto, Gallichan, J, George, B, Gevers, EF, Hackenberg, A, Halász, Z, Heinrich, B, Huynh, T, Klosowska, A, van der Knaap, MS, van der Knoop, MM, Ambegaonkar, Gautem P., Konrad, D, Koolen, DA, Krude, H, Lawson-Yuen, A, Lebl, J, Linder-Lucht, M, Lorea, CF, Lourenço, CM, Lunsing, RJ, Lyons, G, Armour, Christine M., Malikova, J, Mancilla, EE, McGowan, A, Mericq, V, Lora, FM, Moran, C, Müller, KE, Oliver-Petit, I, Paone, L, Paul, PG, Bakhtiani, Priyanka, Polak, M, Porta, F, Poswar, FO, Reinauer, C, Rozenkova, K, Menevse, TS, Simm, P, Simon, A, Singh, Y, Spada, M, Barca, Diana, van der Spek, J, Stals, MAM, Stoupa, A, Subramanian, Gopinath M., Tonduti, D, Turan, S, den Uil, CA, Vanderniet, Joel, van der Walt, A, Wémeau, JL, Bertini, Enrico S., Wierzba, J, de Wit, MCY, Wolf, NI, Wurm, M, Zibordi, F, Zung, A, Zwaveling-Soonawala, N, Visser, WE, van Beynum, Ingrid M.