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
Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum
- Creator: Crow, Yanick J. , Marshall, Heather , Bolduc, Francois , Boddaert, Natalie , Buckard, Johannes , Burnett, Heather , Calvert, Sophie , Caumes, Roseline , Ng, Andy Cheuk-Him , Chiang, Diana , Clifford, David B. , Cordelli, Duccio M. , Rice, Gillian I. , Goel, Himanshu , Demic, N , Desguerre, I , De Waele, L , Di Fonzo, A , Dunham, SR , Dyack, S , Elmslie, F , Ferrand, M , Fisher, G , Seabra, Luis , Karimiani, EG , Ghoumid, J , Gibbon, F , Goel, H , Hilmarsen, HT , Hughes, I , Jacob, A , Jones, EA , Kumar, R , Leventer, RJ , Jenkinson, Emma M. , MacDonald, S , Maroofian, R , Mehta, SG , Metz, I , Monfrini, E , Neumann, D , Noetzel, M , O'Driscoll, M , Õunap, K , Panzer, A , Baranano, Kristin , Parikh, S , Prabhakar, P , Ramond, F , Sandford, R , Saneto, R , Soh, C , Stutterd, CA , Subramanian, GM , Talbot, K , Thomas, RH , Battini, Roberta , Toro, C , Touraine, R , Wakeling, E , Wassmer, E , Whitney, A , Livingston, JH , O'Keefe, RT , Badrock, AP , Berger, Andrea , Blair, Edward , Blauwblomme, Thomas
- Resource Type: journal article
- Date: 2021