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
Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts
- Creator: Jenkinson, Emma M. , Rodero, Mathieu P. , Bhaskar, Sanjeev S. , O'Sullivan, James , Baerlocher, Gabriela M. , Haubitz, Monika , Aubert, Geraldine , Barañano, Kristin W. , Barnicoat, Angela J. , Battini, Roberta , Berger, Andrea , Blair, Edward M. , Kasher, Paul R. , Brunstrom-Hernandez, Janice E. , Buckard, Johannes A. , Cassiman, David M. , Caumes, Rosaline , Cordelli, Duccio M. , De Waele, Liesbeth M. , Fay, Alexander J. , Ferreira, Patrick , Fletcher, Nicholas A. , Fryer, Alan E. , Uggenti, Carolina , Goel, Himanshu , Hemingway, Cheryl A. , Henneke, Marco , Hughes, Imelda , Jefferson, Rosalind J. , Kumar, Ram , Lagae, Lieven , Landrieu, Pierre G. , Lourenço, Charles M. , Malpas, Timothy J. , Oojageer, Anthony , Mehta, Sarju G. , Metz, Imke , Naidu, Sakkubai , Õunap, Katrin , Panzer, Axel , Prabhakar, Prab , Quaghebeur, Geraldine , Schiffmann, Raphael , Sherr, Elliott H. , Sinnathuray, Kanaga R. , Goosey, Laurence C. , Soh, Calvin , Stewart, Helen S. , Stone, John , Van Esch, Hilde , Van Mol, Christine E. G. , Vanderver, Adeline , Wakeling, Emma L. , Whitney, Andrea , Pavitt, Graham D. , Griffiths-Jones, Sam , Rose, Yoann , Rice, Gillian I. , Revy, Patrick , van der Knaap, Margo S. , Livingston, John H. , O'Keefe, Raymond T. , Crow, Yanick J. , Kershaw, Christopher J. , Urquhart, Jill E. , Williams, Simon G.
- Resource Type: journal article
- Date: 2016