Functional Impact of Sydenham’s Chorea: A Case Report

by Gimeno, Hortensia, Barry, Sinead, Lin, Jean-Pierre, Gordon, Anne
Published 2013

Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformation.

by Robin, Nathaniel H, Taylor, Clare J, McDonald-McGinn, Donna M, Zackai, Elaine H, Bingham, Peter, Collins, Kevin J, Earl, Dawn, Gill, Deepak, Granata, Tiziana, Guerrini, Renzo, Katz, Naomi, Kimonis, Virginia, Lin, Jean-Pierre, Lynch, David R, Mohammed, Shehla N, Massey, Roger F, McDonald, Marie, Rogers, R Curtis, Splitt, Miranda, Stevens, Cathy A, Tischkowitz, Marc D, Stoodley, Neil, Leventer, Richard J, Pilz, Daniela T, Dobyns, William B
Published 2006

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.

by Foley, A Reghan, Menezes, Manoj P, Pandraud, Amelie, Gonzalez, Michael A, Al-Odaib, Ahmad, Abrams, Alexander J, Sugano, Kumiko, Yonezawa, Atsushi, Manzur, Adnan Y, Burns, Joshua, Hughes, Imelda, McCullagh, B Gary, Jungbluth, Heinz, Lim, Ming J, Lin, Jean-Pierre, Megarbane, Andre, Urtizberea, J Andoni, Shah, Ayaz H, Antony, Jayne, Webster, Richard, Broomfield, Alexander, Ng, Joanne, Mathew, Ann A, O'Byrne, James J, Forman, Eva, Scoto, Mariacristina, Prasad, Manish, O'Brien, Katherine, Olpin, Simon, Oppenheim, Marcus, Hargreaves, Iain, Land, John M, Wang, Min X, Carpenter, Kevin, Horvath, Rita, Straub, Volker, Lek, Monkol, Gold, Wendy, Farrell, Michael O, Brandner, Sebastian, Phadke, Rahul, Matsubara, Kazuo, McGarvey, Michael L, Scherer, Steven S, Baxter, Peter S, King, Mary D, Clayton, Peter, Rahman, Shamima, Reilly, Mary M, Ouvrier, Robert A, Christodoulou, John, Züchner, Stephan, Muntoni, Francesco, Houlden, Henry
Published 2019

Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.

by Meyer, Esther, Carss, Keren J, Rankin, Julia, Nichols, John ME, Grozeva, Detelina, Joseph, Agnel P, Mencacci, Niccolo E, Papandreou, Apostolos, Ng, Joanne, Barral, Serena, Ngoh, Adeline, Ben-Pazi, Hilla, Willemsen, Michel A, Arkadir, David, Barnicoat, Angela, Bergman, Hagai, Bhate, Sanjay, Boys, Amber, Darin, Niklas, Foulds, Nicola, Gutowski, Nicholas, Hills, Alison, Houlden, Henry, Hurst, Jane A, Israel, Zvi, Kaminska, Margaret, Limousin, Patricia, Lumsden, Daniel, McKee, Shane, Misra, Shibalik, Mohammed, Shekeeb S, Nakou, Vasiliki, Nicolai, Joost, Nilsson, Magnus, Pall, Hardev, Peall, Kathryn J, Peters, Gregory B, Prabhakar, Prab, Reuter, Miriam S, Rump, Patrick, Segel, Reeval, Sinnema, Margje, Smith, Martin, Turnpenny, Peter, White, Susan M, Wieczorek, Dagmar, Wiethoff, Sarah, Wilson, Brian T, Winter, Gidon, Wragg, Christopher, Pope, Simon, Heales, Simon JH, Morrogh, Deborah, UK10K Consortium, Deciphering Developmental Disorders Study, NIHR BioResource Rare Diseases Consortium, Pittman, Alan, Carr, Lucinda J, Perez-Dueñas, Belen, Lin, Jean-Pierre, Reis, Andre, Gahl, William A, Toro, Camilo, Bhatia, Kailash P, Wood, Nicholas W, Kamsteeg, Erik-Jan, Chong, Wui K, Gissen, Paul, Topf, Maya, Dale, Russell C, Chubb, Jonathan R, Raymond, F Lucy, Kurian, Manju A
Published 2019