Reply: Parkinson’s disease in GTP cyclohydrolase 1 mutation carriers

by Mencacci, Niccolo E., Pittman, Alan M., Isaias, Ioannis U., Hardy, John, Klebe, Stephan, Bhatia, Kailash P., Wood, Nicholas W.
Published 2015

The MAPT p.A152T variant is a risk factor associated with tauopathies with atypical clinical and neuropathological features

by Kara, Eleanna, Ling, Helen, Pittman, Alan M., Shaw, Karen, de Silva, Rohan, Simone, Roberto, Holton, Janice L., Warren, Jason D., Rohrer, Jonathan D., Xiromerisiou, Georgia, Lees, Andrew, Hardy, John, Houlden, Henry, Revesz, Tamas
Published 2012

The CACNA1B R1389H variant is not associated with myoclonus-dystonia in a large European multicentric cohort

by Mencacci, Niccolo E., R'bibo, Léa, Bandres-Ciga, Sara, Carecchio, Miryam, Zorzi, Giovanna, Nardocci, Nardo, Garavaglia, Barbara, Batla, Amit, Bhatia, Kailash P., Pittman, Alan M., Hardy, John, Weissbach, Anne, Klein, Christine, Gasser, Thomas, Lohmann, Ebba, Wood, Nicholas W.
Published 2015

MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies

by Trabzuni, Daniah, Wray, Selina, Vandrovcova, Jana, Ramasamy, Adaikalavan, Walker, Robert, Smith, Colin, Luk, Connie, Gibbs, J. Raphael, Dillman, Allissa, Hernandez, Dena G., Arepalli, Sampath, Singleton, Andrew B., Cookson, Mark R., Pittman, Alan M., de Silva, Rohan, Weale, Michael E., Hardy, John, Ryten, Mina
Published 2012

Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis

by Gang, Qiang, Bettencourt, Conceição, Machado, Pedro M., Brady, Stefen, Holton, Janice L., Pittman, Alan M., Hughes, Deborah, Healy, Estelle, Parton, Matthew, Hilton-Jones, David, Shieh, Perry B., Needham, Merrilee, Liang, Christina, Zanoteli, Edmar, de Camargo, Leonardo Valente, De Paepe, Boel, De Bleecker, Jan, Shaibani, Aziz, Ripolone, Michela, Violano, Raffaella, Moggio, Maurizio, Barohn, Richard J., Dimachkie, Mazen M., Mora, Marina, Mantegazza, Renato, Zanotti, Simona, Singleton, Andrew B., Hanna, Michael G., Houlden, Henry
Published 2016

Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33

by Houlston, Richard S, Cheadle, Jeremy, Dobbins, Sara E, Tenesa, Albert, Jones, Angela M, Howarth, Kimberley, Spain, Sarah L, Broderick, Peter, Domingo, Enric, Farrington, Susan, Prendergast, James GD, Pittman, Alan M, Theodoratou, Evi, Smith, Christopher G, Olver, Bianca, Walther, Axel, Barnetson, Rebecca A, Churchman, Michael, Jaeger, Emma EM, Penegar, Steven, Barclay, Ella, Martin, Lynn, Gorman, Maggie, Mager, Rachel, Johnstone, Elaine, Midgley, Rachel, Niittymäki, Iina, Tuupanen, Sari, Colley, James, Idziaszczyk, Shelley, Thomas, Huw JM, Lucassen, Anneke M, Evans, D Gareth R, Maher, Eamonn R, Maughan, Timothy, Dimas, Antigone, Dermitzakis, Emmanouil, Cazier, Jean-Baptiste, Aaltonen, Lauri A, Pharoah, Paul, Kerr, David J, Carvajal-Carmona, Luis G, Campbell, Harry, Dunlop, Malcolm G, Tomlinson, Ian PM
Published 2010

Parkinson’s disease in GTP cyclohydrolase 1 mutation carriers

by Mencacci, Niccolò E., Isaias, Ioannis U., Reich, Martin M., Ganos, Christos, Plagnol, Vincent, Polke, James M., Bras, Jose, Hersheson, Joshua, Stamelou, Maria, Pittman, Alan M., Noyce, Alastair J., Mok, Kin Y., Opladen, Thomas, Kunstmann, Erdmute, Hodecker, Sybille, Münchau, Alexander, Volkmann, Jens, Samnick, Samuel, Sidle, Katie, Nanji, Tina, Sweeney, Mary G., Houlden, Henry, Batla, Amit, Zecchinelli, Anna L., Pezzoli, Gianni, Marotta, Giorgio, Lees, Andrew, Alegria, Paulo, Krack, Paul, Cormier-Dequaire, Florence, Lesage, Suzanne, Brice, Alexis, Heutink, Peter, Gasser, Thomas, Lubbe, Steven J., Morris, Huw R., Taba, Pille, Koks, Sulev, Majounie, Elisa, Raphael Gibbs, J., Singleton, Andrew, Hardy, John, Klebe, Stephan, Bhatia, Kailash P., Wood, Nicholas W.
Published 2014

Multiple Common Susceptibility Variants near BMP Pathway Loci GREM1, BMP4, and BMP2 Explain Part of the Missing Heritability of Colorectal Cancer

by Tomlinson, Ian P. M., Carvajal-Carmona, Luis G., Dobbins, Sara E., Tenesa, Albert, Jones, Angela M., Howarth, Kimberley, Palles, Claire, Broderick, Peter, Jaeger, Emma E. M., Farrington, Susan, Lewis, Annabelle, Prendergast, James G. D., Pittman, Alan M., Theodoratou, Evropi, Olver, Bianca, Walker, Marion, Penegar, Steven, Barclay, Ella, Whiffin, Nicola, Martin, Lynn, Ballereau, Stephane, Lloyd, Amy, Gorman, Maggie, Lubbe, Steven, Howie, Bryan, Marchini, Jonathan, Ruiz-Ponte, Clara, Fernandez-Rozadilla, Ceres, Castells, Antoni, Carracedo, Angel, Castellvi-Bel, Sergi, Duggan, David, Conti, David, Cazier, Jean-Baptiste, Campbell, Harry, Sieber, Oliver, Lipton, Lara, Gibbs, Peter, Martin, Nicholas G., Montgomery, Grant W., Young, Joanne, Baird, Paul N., Gallinger, Steven, Newcomb, Polly, Hopper, John, Jenkins, Mark A., Aaltonen, Lauri A., Kerr, David J., Cheadle, Jeremy, Pharoah, Paul, Casey, Graham, Houlston, Richard S., Dunlop, Malcolm G.
Published 2011