Search Results - Lubbe, Steven

Evaluation of NTHL1, NEIL1, NEIL2, MPG, TDG, UNG and SMUG1 genes in familial colorectal cancer predisposition by Broderick, Peter, Bagratuni, Tina, Vijayakrishnan, Jairam, Lubbe, Steven, Chandler, Ian, Houlston, Richard S

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A genome-wide scan of 10 000 gene-centric variants and colorectal cancer risk by Webb, Emily, Broderick, Peter, Lubbe, Steven, Chandler, Ian, Tomlinson, Ian, Houlston, Richard S

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A genome-wide scan of 10 000 gene-centric variants and colorectal cancer risk by Webb, Emily, Broderick, Peter, Lubbe, Steven, Chandler, Ian, Tomlinson, Ian, Houlston, Richard S

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Early Onset Parkinson’s Disease in a family of Moroccan origin caused by a p.A217D mutation in PINK1: a case report by Norman, Brendan P., Lubbe, Steven J., Tan, Manuela, Warren, Naomi, Morris, Huw R.

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A Cancer-associated Aurora A Mutant Is Mislocalized and Misregulated Due to Loss of Interaction with TPX2 by Bibby, Rachel Ann, Tang, Chan, Faisal, Amir, Drosopoulos, Konstantinos, Lubbe, Steven, Houlston, Richard, Bayliss, Richard, Linardopoulos, Spiros

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EIF4G1 mutations do not cause Parkinson’s disease by Nichols, Noah, Bras, Jose M, Hernandez, Dena G, Jansen, Iris E, Lesage, Suzanne, Lubbe, Steven, Singleton, Andrew B

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Genetic risk and age in Parkinson’s: continuum not stratum by Nalls, Mike A., Escott-Price, Valentina, Williams, Nigel, Lubbe, Steven, Keller, Margaux F., Morris, Huw R., Singleton, Andrew B.

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Replication assessment of NUS1 variants in Parkinson’s disease by Bustos, Bernabe I., Bandres-Ciga, Sara, Gibbs, J. Raphael, Krainc, Dimitri, Mencacci, Niccolo E., Gan-Or, Ziv, Lubbe, Steven J.

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Evaluation of Germline BMP4 Mutation as a Cause of Colorectal Cancer by Lubbe, Steven J, Pittman, Alan M, Matijssen, Cornelis, Twiss, Philip, Olver, Bianca, Lloyd, Amy, Qureshi, Mobshra, Brown, Nathan, Nye, Emma, Stamp, Gordon, Blagg, Julian, Houlston, Richard S

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A novel TBK1 mutation in a family with diverse frontotemporal dementia spectrum disorders by Lamb, Ruth, Rohrer, Jonathan D., Real, Raquel, Lubbe, Steven J., Waite, Adrian J., Blake, Derek J., Walters, R. Jon, Lashley, Tammaryn, Revesz, Tamas, Holton, Janice L., Morris, Huw R.

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Assessing the relationship between monoallelic PRKN mutations and Parkinson’s risk by Lubbe, Steven J, Bustos, Bernabe I, Hu, Jing, Krainc, Dimitri, Joseph, Theresita, Hehir, Jason, Tan, Manuela, Zhang, Weijia, Escott-Price, Valentina, Williams, Nigel M, Blauwendraat, Cornelis, Singleton, Andrew B, Morris, Huw R

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Homozygous might be hemizygous: CRISPR/Cas9 editing in iPSCs results in detrimental on-target defects that escape standard quality controls by Simkin, Dina, Papakis, Vasileios, Bustos, Bernabe I., Ambrosi, Christina M., Ryan, Steven J., Baru, Valeriya, Williams, Luis A., Dempsey, Graham T., McManus, Owen B., Landers, John E., Lubbe, Steven J., George, Alfred L., Kiskinis, Evangelos

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Dyshomeostatic modulation of Ca(2+)-activated K(+) channels in a human neuronal model of KCNQ2 encephalopathy by Simkin, Dina, Marshall, Kelly A, Vanoye, Carlos G, Desai, Reshma R, Bustos, Bernabe I, Piyevsky, Brandon N, Ortega, Juan A, Forrest, Marc, Robertson, Gabriella L, Penzes, Peter, Laux, Linda C, Lubbe, Steven J, Millichap, John J, George, Alfred L, Kiskinis, Evangelos

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Distinct clinical and neuropathological features of G51D SNCA mutation cases compared with SNCA duplication and H50Q mutation by Kiely, Aoife P., Ling, Helen, Asi, Yasmine T., Kara, Eleanna, Proukakis, Christos, Schapira, Anthony H., Morris, Huw R., Roberts, Helen C., Lubbe, Steven, Limousin, Patricia, Lewis, Patrick A., Lees, Andrew J., Quinn, Niall, Hardy, John, Love, Seth, Revesz, Tamas, Houlden, Henry, Holton, Janice L.

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Establishing the role of rare coding variants in known Parkinson’s disease risk loci by Jansen, Iris E, Gibbs, J Raphael, Nalls, Mike A, Price, T Ryan, Lubbe, Steven, van Rooij, Jeroen, Uitterlinden, André G., Kraaij, Robert, Williams, Nigel M, Brice, Alexis, Hardy, John, Wood, Nicholas W, Morris, Huw R, Gasser, Thomas, Singleton, Andrew B, Heutink, Peter, Sharma, Manu

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Additional rare variant analysis in Parkinson’s disease cases with and without known pathogenic mutations: evidence for oligogenic inheritance by Lubbe, Steven J., Escott-Price, Valentina, Gibbs, J. Raphael, Nalls, Mike A., Bras, Jose, Price, T. Ryan, Nicolas, Aude, Jansen, Iris E., Mok, Kin Y., Pittman, Alan M., Tomkins, James E., Lewis, Patrick A., Noyce, Alastair J., Lesage, Suzanne, Sharma, Manu, Schiff, Elena R., Levine, Adam P., Brice, Alexis, Gasser, Thomas, Hardy, John, Heutink, Peter, Wood, Nicholas W., Singleton, Andrew B., Williams, Nigel M., Morris, Huw R.

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NeuroX, a Fast and Efficient Genotyping Platform for Investigation of Neurodegenerative Diseases by Nalls, Mike A., Bras, Jose, Hernandez, Dena G., Keller, Margaux F., Majounie, Elisa, Renton, Alan E., Saad, Mohamad, Jansen, Iris, Guerreiro, Rita, Lubbe, Steven, Plagnol, Vincent, Gibbs, J. Raphael, Schulte, Claudia, Pankratz, Nathan, Sutherland, Margaret, Bertram, Lars, Lill, Christina, DeStefano, Anita L., Faroud, Tatiana, Eriksson, Nicholas, Tung, Joyce Y., Connor, Edsall, Nichols, Noah, Brooks, Janet, Arepalli, Sampath, Pliner, Hannah, Letson, Chris, Heutink, Peter, Martinez, Maria, Gasser, Thomas, Traynor, Bryan J., Wood, Nick, Hardy, John, Singleton, Andrew B.

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Rsu1 regulates ethanol consumption in Drosophila and humans by Ojelade, Shamsideen A., Jia, Tianye, Rodan, Aylin R., Chenyang, Tao, Kadrmas, Julie L., Cattrell, Anna, Ruggeri, Barbara, Charoen, Pimphen, Lemaitre, Hervé, Banaschewski, Tobias, Büchel, Christian, Bokde, Arun L. W., Carvalho, Fabiana, Conrod, Patricia J., Flor, Herta, Frouin, Vincent, Gallinat, Jürgen, Garavan, Hugh, Gowland, Penny A., Heinz, Andreas, Ittermann, Bernd, Lathrop, Mark, Lubbe, Steven, Martinot, Jean-Luc, Paus, Tomás, Smolka, Michael N., Spanagel, Rainer, O’Reilly, Paul F., Laitinen, Jaana, Veijola, Juha M., Feng, Jianfeng, Desrivières, Sylvane, Jarvelin, Marjo-Riitta, Schumann, Gunter, Rothenfluh, Adrian

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Discovery and functional prioritization of Parkinson’s disease candidate genes from large-scale whole exome sequencing by Jansen, Iris E., Ye, Hui, Heetveld, Sasja, Lechler, Marie C., Michels, Helen, Seinstra, Renée I., Lubbe, Steven J., Drouet, Valérie, Lesage, Suzanne, Majounie, Elisa, Gibbs, J. Raphael, Nalls, Mike A., Ryten, Mina, Botia, Juan A., Vandrovcova, Jana, Simon-Sanchez, Javier, Castillo-Lizardo, Melissa, Rizzu, Patrizia, Blauwendraat, Cornelis, Chouhan, Amit K., Li, Yarong, Yogi, Puja, Amin, Najaf, van Duijn, Cornelia M., Morris, Huw R., Brice, Alexis, Singleton, Andrew B., David, Della C., Nollen, Ellen A., Jain, Shushant, Shulman, Joshua M., Heutink, Peter

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EIF2AK2 Missense Variants Associated with Early Onset Generalized Dystonia by Kuipers, Demy J. S., Mandemakers, Wim, Lu, Chin‐Song, Olgiati, Simone, Breedveld, Guido J., Fevga, Christina, Tadic, Vera, Carecchio, Miryam, Osterman, Bradley, Sagi‐Dain, Lena, Wu‐Chou, Yah‐Huei, Chen, Chiung C., Chang, Hsiu‐Chen, Wu, Shey‐Lin, Yeh, Tu‐Hsueh, Weng, Yi‐Hsin, Elia, Antonio E., Panteghini, Celeste, Marotta, Nicolas, Pauly, Martje G., Kühn, Andrea A., Volkmann, Jens, Lace, Baiba, Meijer, Inge A., Kandaswamy, Krishna, Quadri, Marialuisa, Garavaglia, Barbara, Lohmann, Katja, Bauer, Peter, Mencacci, Niccolò E., Lubbe, Steven J., Klein, Christine, Bertoli‐Avella, Aida M., Bonifati, Vincenzo

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