Study of the genetic variability in a Parkinson's Disease gene: EIF4G1

by Tucci, Arianna, Charlesworth, Gavin, Sheerin, Una-Marie, Plagnol, Vincent, Wood, Nicholas W., Hardy, John
Published 2012

ALS2 mutations: Juvenile amyotrophic lateral sclerosis and generalized dystonia

by Sheerin, Una-Marie, Schneider, Susanne A., Carr, Lucinda, Deuschl, Guenther, Hopfner, Franziska, Stamelou, Maria, Wood, Nicholas W., Bhatia, Kailash P.
Published 2014

Screening for VPS35 mutations in Parkinson's disease

by Sheerin, Una-Marie, Charlesworth, Gavin, Bras, Jose, Guerreiro, Rita, Bhatia, Kailash, Foltynie, Thomas, Limousin, Patricia, Silveira-Moriyama, Laura, Lees, Andrew, Wood, Nicholas
Published 2012

Young-onset parkinsonism due to homozygous duplication of α-synuclein in a consanguineous family

by Kojovic, Maja, Sheerin, Una-Marie, Rubio-Agusti, Ignacio, Saha, Anirban, Bras, Jose, Gibbons, Vaneesha, Palmer, Rodger, Houlden, Henry, Hardy, John, Wood, Nicholas W, Bhatia, Kailash P
Published 2012

Analysis of Parkinson's disease brain–derived DNA for alpha-synuclein coding somatic mutations

by Proukakis, Christos, Shoaee, Maryiam, Morris, James, Brier, Timothy, Kara, Eleanna, Sheerin, Una-Marie, Charlesworth, Gavin, Tolosa, Eduardo, Houlden, Henry, Wood, Nicholas W, Schapira, Anthony H
Published 2014

The Phenotypic Spectrum of DYT24 Due to ANO3 Mutations

by Stamelou, Maria, Charlesworth, Gavin, Cordivari, Carla, Schneider, Susanne A, Kägi, Georg, Sheerin, Una-Marie, Rubio-Agusti, Ignacio, Batla, Amit, Houlden, Henry, Wood, Nicholas W, Bhatia, Kailash P
Published 2014

Hereditary leukoencephalopathy with axonal spheroids: a spectrum of phenotypes from CNS vasculitis to parkinsonism in an adult onset leukodystrophy series

by Lynch, David S, Jaunmuktane, Zane, Sheerin, Una-Marie, Phadke, Rahul, Brandner, Sebastian, Milonas, Ionnis, Dean, Andrew, Bajaj, Nin, McNicholas, Nuala, Costello, Daniel, Cronin, Simon, McGuigan, Chris, Rossor, Martin, Fox, Nick, Murphy, Elaine, Chataway, Jeremy, Houlden, Henry
Published 2016

Glycine receptor antibodies in PERM and related syndromes: characteristics, clinical features and outcomes

by Carvajal-González, Alexander, Leite, M. Isabel, Waters, Patrick, Woodhall, Mark, Coutinho, Ester, Balint, Bettina, Lang, Bethan, Pettingill, Philippa, Carr, Aisling, Sheerin, Una-Marie, Press, Raomand, Lunn, Michael P., Lim, Ming, Maddison, Paul, Meinck, H.-M., Vandenberghe, Wim, Vincent, Angela
Published 2014

Parkinson's disease-linked mutations in VPS35 induce dopaminergic neurodegeneration

by Tsika, Elpida, Glauser, Liliane, Moser, Roger, Fiser, Aris, Daniel, Guillaume, Sheerin, Una-Marie, Lees, Andrew, Troncoso, Juan C., Lewis, Patrick A., Bandopadhyay, Rina, Schneider, Bernard L., Moore, Darren J.
Published 2014

Characterisation and Validation of Insertions and Deletions in 173 Patient Exomes

by Lescai, Francesco, Bonfiglio, Silvia, Bacchelli, Chiara, Chanudet, Estelle, Waters, Aoife, Sisodiya, Sanjay M., Kasperavičiūtė, Dalia, Williams, Julie, Harold, Denise, Hardy, John, Kleta, Robert, Cirak, Sebahattin, Williams, Richard, Achermann, John C., Anderson, John, Kelsell, David, Vulliamy, Tom, Houlden, Henry, Wood, Nicholas, Sheerin, Una, Tonini, Gian Paolo, Mackay, Donna, Hussain, Khalid, Sowden, Jane, Kinsler, Veronica, Osinska, Justyna, Brooks, Tony, Hubank, Mike, Beales, Philip, Stupka, Elia
Published 2012

Tau acts as an independent genetic risk factor in pathologically proven PD

by Charlesworth, Gavin, Gandhi, Sonia, Bras, Jose M., Barker, Roger A., Burn, David J., Chinnery, Patrick F., Gentleman, Stephen M., Guerreiro, Rita, Hardy, John, Holton, Janice L., Lees, Andrew, Morrison, Karen, Sheerin, Una-Marie, Williams, Nigel, Morris, Huw, Revesz, Tamas, Wood, Nicholas W.
Published 2012

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, 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

Creation of an Open-Access, Mutation-Defined Fibroblast Resource for Neurological Disease Research

by Wray, Selina, Self, Matthew, Lewis, Patrick A., Taanman, Jan-Willem, Ryan, Natalie S., Mahoney, Colin J., Liang, Yuying, Devine, Michael J., Sheerin, Una-Marie, Houlden, Henry, Morris, Huw R., Healy, Daniel, Marti-Masso, Jose-Felix, Preza, Elisavet, Barker, Suzanne, Sutherland, Margaret, Corriveau, Roderick A., D'Andrea, Michael, Schapira, Anthony H. V., Uitti, Ryan J., Guttman, Mark, Opala, Grzegorz, Jasinska-Myga, Barbara, Puschmann, Andreas, Nilsson, Christer, Espay, Alberto J., Slawek, Jaroslaw, Gutmann, Ludwig, Boeve, Bradley F., Boylan, Kevin, Stoessl, A. Jon, Ross, Owen A., Maragakis, Nicholas J., Van Gerpen, Jay, Gerstenhaber, Melissa, Gwinn, Katrina, Dawson, Ted M., Isacson, Ole, Marder, Karen S., Clark, Lorraine N., Przedborski, Serge E., Finkbeiner, Steven, Rothstein, Jeffrey D., Wszolek, Zbigniew K., Rossor, Martin N., Hardy, John
Published 2012