檢索結果 - Lubbe, Steven

Evaluation of NTHL1, NEIL1, NEIL2, MPG, TDG, UNG and SMUG1 genes in familial colorectal cancer predisposition 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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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