POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum
- Creator: 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
- Resource Type: journal article
- Date: 2023
TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease
- Creator: 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
- Resource Type: journal article
- Date: 2023
Long-Term Efficacy of T3 Analogue Triac in Children and Adults with MCT8 Deficiency: A Real-Life Retrospective Cohort Study
- Creator: 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
- Resource Type: journal article
- Date: 2021
Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study
- Creator: 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.
- Resource Type: journal article
- Date: 2020