Naming Genes for Dystonia: DYT-z or Ditzy?

by Mencacci, Niccolo E., Jinnah, H. A.
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

Deletions at 22q11.2 in idiopathic Parkinson's disease: a combined analysis of genome-wide association data.

by Mok, Kin Y, Sheerin, Una, Simón-Sánchez, Javier, Salaka, Afnan, Chester, Lucy, Escott-Price, Valentina, Mantripragada, Kiran, Doherty, Karen M, Noyce, Alastair J, Mencacci, Niccolo E, Lubbe, Steven J, International Parkinson's Disease Genomics Consortium (IPDGC), Williams-Gray, Caroline H, Barker, Roger A, van Dijk, Karin D, Berendse, Henk W, Heutink, Peter, Corvol, Jean-Christophe, Cormier, Florence, Lesage, Suzanne, Brice, Alexis, Brockmann, Kathrin, Schulte, Claudia, Gasser, Thomas, Foltynie, Thomas, Limousin, Patricia, Morrison, Karen E, Clarke, Carl E, Sawcer, Stephen, Warner, Tom T, Lees, Andrew J, Morris, Huw R, Nalls, Mike A, Singleton, Andrew B, Hardy, John, Abramov, Andrey Y, Plagnol, Vincent, Williams, Nigel M, Wood, Nicholas W
Published 2016