Advances in the Genetics of Parkinson's Disease: A Guide for the Clinician

door Sheerin, Una‐Marie, Houlden, Henry, Wood, Nicholas W.
Gepubliceerd in Mov Disord Clin Pract (2014)

The entity of parkinsonism and associated lipomatosis

door Stamelou, Maria, Sheerin, Una-Marie, Wood, Nicholas, Bhatia, Kailash P.
Gepubliceerd in Neurology (2014)

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

door Tucci, Arianna, Charlesworth, Gavin, Sheerin, Una-Marie, Plagnol, Vincent, Wood, Nicholas W., Hardy, John
Gepubliceerd in 2012

Exome Sequencing Identifies a Novel Homozygous Missense ATP13A2 Mutation

door Abbas, Masoom M., Govindappa, Shyla T., Sheerin, Una‐Marie, Bhatia, Kailash P., Muthane, Uday B.
Gepubliceerd in Mov Disord Clin Pract (2016)

ALS2 mutations: Juvenile amyotrophic lateral sclerosis and generalized dystonia

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

Migraine with aura as the predominant phenotype in a family with a PRRT2 mutation

door Sheerin, Una-Marie, Stamelou, Maria, Charlesworth, Gavin, Shiner, Tamara, Spacey, Sian, Valente, Enza-Maria, Wood, Nicholas W., Bhatia, Kailash P.
Gepubliceerd in 2012

Screening for VPS35 mutations in Parkinson's disease

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

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

door 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
Gepubliceerd in 2014

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

door 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
Gepubliceerd in Mov Disord (2012)

The Phenotypic Spectrum of DYT24 Due to ANO3 Mutations

door 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
Gepubliceerd in 2014

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

door 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.
Gepubliceerd in 2014

Mutations in ANO3 Cause Dominant Craniocervical Dystonia: Ion Channel Implicated in Pathogenesis

door Charlesworth, Gavin, Plagnol, Vincent, Holmström, Kira M., Bras, Jose, Sheerin, Una-Marie, Preza, Elisavet, Rubio-Agusti, Ignacio, Ryten, Mina, Schneider, Susanne A., Stamelou, Maria, Trabzuni, Daniah, Abramov, Andrey Y., Bhatia, Kailash P., Wood, Nicholas W.
Gepubliceerd in 2012

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

door 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
Gepubliceerd in J Neurol Neurosurg Psychiatry (2016)

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

door 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
Gepubliceerd in 2014

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

door 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.
Gepubliceerd in 2012

Lack of evidence for a role of genetic variation in TMEM230 in the risk for Parkinson’s disease in the Caucasian population

door Giri, Anamika, Mok, Kin Y., Jansen, Iris, Sharma, Manu, Tesson, Christelle, Mangone, Graziella, Lesage, Suzanne, Bras, José M., Shulman, Joshua M., Sheerin, Una-Marie, Díez-Fairen, Mónica, Pastor, Pau, Martí, María José, Ezquerra, Mario, Tolosa, Eduardo, Correia-Guedes, Leonor, Ferreira, Joaquim, Amin, Najaf, van Duijn, Cornelia M., van Rooij, Jeroen, Uitterlinden, André G., Kraaij, Robert, Nalls, Michael, Simón-Sánchez, Javier
Gepubliceerd in Neurobiol Aging (2016)

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

door 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
Gepubliceerd in 2012

A Multicenter Study of Glucocerebrosidase Mutations in Dementia With Lewy Bodies

door Nalls, Michael A., Duran, Raquel, Lopez, Grisel, Kurzawa-Akanbi, Marzena, McKeith, Ian G., Chinnery, Patrick F., Morris, Christopher M., Theuns, Jessie, Crosiers, David, Cras, Patrick, Engelborghs, Sebastiaan, De Deyn, Peter Paul, Van Broeckhoven, Christine, Mann, David M. A., Snowden, Julie, Pickering-Brown, Stuart, Halliwell, Nicola, Davidson, Yvonne, Gibbons, Linda, Harris, Jenny, Sheerin, Una-Marie, Bras, Jose, Hardy, John, Clark, Lorraine, Marder, Karen, Honig, Lawrence S., Berg, Daniela, Maetzler, Walter, Brockmann, Kathrin, Gasser, Thomas, Novellino, Fabiana, Quattrone, Aldo, Annesi, Grazia, De Marco, Elvira Valeria, Rogaeva, Ekaterina, Masellis, Mario, Black, Sandra E., Bilbao, Juan M., Foroud, Tatiana, Ghetti, Bernardino, Nichols, William C., Pankratz, Nathan, Halliday, Glenda, Lesage, Suzanne, Klebe, Stephan, Durr, Alexandra, Duyckaerts, Charles, Brice, Alexis, Giasson, Benoit I., Trojanowski, John Q., Hurtig, Howard I., Tayebi, Nahid, Landazabal, Claudia, Knight, Melanie A., Keller, Margaux, Singleton, Andrew B., Wolfsberg, Tyra G., Sidransky, Ellen
Gepubliceerd in 2013

A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease

door Holmans, Peter, Moskvina, Valentina, Jones, Lesley, Sharma, Manu, Vedernikov, Alexey, Buchel, Finja, Sadd, Mohamad, Bras, Jose M., Bettella, Francesco, Nicolaou, Nayia, Simón-Sánchez, Javier, Mittag, Florian, Gibbs, J. Raphael, Schulte, Claudia, Durr, Alexandra, Guerreiro, Rita, Hernandez, Dena, Brice, Alexis, Stefánsson, Hreinn, Majamaa, Kari, Gasser, Thomas, Heutink, Peter, Wood, Nicholas W., Martinez, Maria, Singleton, Andrew B., Nalls, Michael A., Hardy, John, Morris, Huw R., Williams, Nigel M., Arepalli, Sampath, Barker, Roger, Barrett, Jeffrey, Ben-Shlomo, Yoav, Berendse, Henk W., Berg, Daniela, Bhatia, Kailash, de Bie, Rob M.A., Biffi, Alessandro, Bloem, Bas, Brice, Alexis, Bochdanovits, Zoltan, Bonin, Michael, Bras, Jose M., Brockmann, Kathrin, Brooks, Janet, Burn, David J., Charlesworth, Gavin, Chen, Honglei, Chinnery, Patrick F., Chong, Sean, Clarke, Carl E., Cookson, Mark R., Cooper, Jonathan M., Corvol, Jen-Christophe, Counsell, Carl, Damier, Philippe, Dartigues, Jean Francois, Deloukas, Panagiotis, Deuschl, Günther, Dexter, David T., van Dijk, Karin D., Dillman, Allissa, Durif, Frank, Durr, Alexandra, Edkins, Sarah, Evans, Jonathan R., Foltynie, Thomas, Gao, Jianjun, Gardner, Michelle, Gasser, Thomas, Gibbs, J. Raphael, Goate, Alison, Gray, Emma, Guerreiro, Rita, Gústafsson, Ómar, Hardy, John, Harris, Clare, Hernandez, Dena G., Heutink, Peter, van Hilten, Jacobus J., Hofman, Albert, Hollenbeck, Albert, Holmans, Peter, Holton, Janice, Hu, Michele, Huber, Heiko, Hudson, Gavin, Hunt, Sarah E., Huttenlocher, Johanna, Illig, Thomas, Langford, Cordelia, Lees, Andrew, Lesage, Suzanne, Lichtner, Peter, Limousin, Patricia, Lopez, Grisel, Lorenz, Delia, Martinez, Maria, McNeill, Alisdair, Moorby, Catriona, Moore, Matthew, Morris, Huw, Morrison, Karen E., Moskvina, Valentina, Mudanohwo, Ese, Nalls, Michael A., Pearson, Justin, Perlmutter, Joel S., Pétursson, Hjörvar, Plagnol, Vincent, Pollak, Pierre, Post, Bart, Potter, Simon, Ravina, Bernard, Revesz, Tamas, Riess, Olaf, Rivadeneira, Fernando, Rizzu, Patrizia, Ryten, Mina, Saad, Mohamad, Sawcer, Stephen, Schapira, Anthony, Scheffer, Hans, Sharma, Manu, Shaw, Karen, Sheerin, Una-Marie, Shoulson, Ira, Schulte, Claudia, Sidransky, Ellen, Simón-Sánchez, Javier, Singleton, Andrew B., Smith, Colin, Stefánsson, Hreinn, Stefánsson, Kári, Steinberg, Stacy, Stockton, Joanna D., Sveinbjornsdottir, Sigurlaug, Talbot, Kevin, Tanner, Carlie M., Tashakkori-Ghanbaria, Avazeh, Tison, François, Trabzuni, Daniah, Traynor, Bryan J., Uitterlinden, André G., Velseboer, Daan, Vidailhet, Marie, Walker, Robert, van de Warrenburg, Bart, Wickremaratchi, Mirdhu, Williams, Nigel, Williams-Gray, Caroline H., Winder-Rhodes, Sophie, Wood, Nicholas
Gepubliceerd in 2013

Unbiased screen for interactors of leucine-rich repeat kinase 2 supports a common pathway for sporadic and familial Parkinson disease

door Beilina, Alexandria, Rudenko, Iakov N., Kaganovich, Alice, Civiero, Laura, Chau, Hien, Kalia, Suneil K., Kalia, Lorraine V., Lobbestael, Evy, Chia, Ruth, Ndukwe, Kelechi, Ding, Jinhui, Nalls, Mike A., Olszewski, Maciej, Hauser, David N., Kumaran, Ravindran, Lozano, Andres M., Baekelandt, Veerle, Greene, Lois E., Taymans, Jean-Marc, Greggio, Elisa, Cookson, Mark R., Nalls, Mike A., Plagnol, Vincent, Martinez, Maria, Hernandez, Dena G, Sharma, Manu, Sheerin, Una-Marie, Saad, Mohamad, Simón-Sánchez, Javier, Schulte, Claudia, Lesage, Suzanne, Sveinbjörnsdóttir, Sigurlaug, Arepalli, Sampath, Barker, Roger, Ben-Shlomo, Yoav, Berendse, Henk W, Berg, Daniela, Bhatia, Kailash, de Bie, Rob M A, Biffi, Alessandro, Bloem, Bas, Bochdanovits, Zoltan, Bonin, Michael, Bras, Jose M, Brockmann, Kathrin, Brooks, Janet, Burn, David J, Charlesworth, Gavin, Chen, Honglei, Chong, Sean, Clarke, Carl E, Cookson, Mark R, Cooper, J Mark, Corvol, Jean Christophe, Counsell, Carl, Damier, Philippe, Dartigues, Jean-François, Deloukas, Panos, Deuschl, Günther, Dexter, David T, van Dijk, Karin D, Dillman, Allissa, Durif, Frank, Dürr, Alexandra, Edkins, Sarah, Evans, Jonathan R, Foltynie, Thomas, Gao, Jianjun, Gardner, Michelle, Gibbs, J Raphael, Goate, Alison, Gray, Emma, Guerreiro, Rita, Gústafsson, Ómar, Harris, Clare, van Hilten, Jacobus J, Hofman, Albert, Hollenbeck, Albert, Holton, Janice, Hu, Michele, Huang, Xuemei, Huber, Heiko, Hudson, Gavin, Hunt, Sarah E, Huttenlocher, Johanna, Illig, Thomas, München, Helmholtz Zentrum, Jónsson, Pálmi V, Lambert, Jean-Charles, Langford, Cordelia, Lees, Andrew, Lichtner, Peter, München, Helmholtz Zentrum, Limousin, Patricia, Lopez, Grisel, Lorenz, Delia, McNeill, Alisdair, Moorby, Catriona, Moore, Matthew, Morris, Huw R, Morrison, Karen E, Mudanohwo, Ese, O’Sullivan, Sean S, Pearson, Justin, Perlmutter, Joel S, Pétursson, Hjörvar, Pollak, Pierre, Post, Bart, Potter, Simon, Ravina, Bernard, Revesz, Tamas, Riess, Olaf, Rivadeneira, Fernando, Rizzu, Patrizia, Ryten, Mina, Sawcer, Stephen, Schapira, Anthony, Scheffer, Hans, Shaw, Karen, Shoulson, Ira, Sidransky, Ellen, Smith, Colin, Spencer, Chris C A, Stefánsson, Hreinn, Steinberg, Stacy, Stockton, Joanna D, Strange, Amy, Talbot, Kevin, Tanner, Carlie M, Tashakkori-Ghanbaria, Avazeh, Tison, François, Trabzuni, Daniah, Traynor, Bryan J, Uitterlinden, André G, Velseboer, Daan, Vidailhet, Marie, Walker, Robert, van de Warrenburg, Bart, Wickremaratchi, Mirdhu, Williams, Nigel, Williams-Gray, Caroline H, Winder-Rhodes, Sophie, Stefánsson, Kári, Hardy, John, Heutink, Peter, Brice, Alexis, Gasser, Thomas, Singleton, Andrew B, Wood, Nicholas W, Chinnery, Patrick F, Arepalli, Sampath, Cookson, Mark R, Dillman, Allissa, Ferrucci, Luigi, Gibbs, J Raphael, Hernandez, Dena G, Johnson, Robert, Longo, Dan L, Majounie, Elisa, Nalls, Michael A, O’Brien, Richard, Singleton, Andrew B, Traynor, Bryan J, Troncoso, Juan, van der Brug, Marcel, Zielke, H Ronald, Zonderman, Alan B
Gepubliceerd in 2014