檢索結果 - Steven Lubbe

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  1. 1
    Clinical Implications of the Colorectal Cancer Risk Associated With <i>MUTYH</i> Mutation

    Clinical Implications of the Colorectal Cancer Risk Associated With <i>MUTYH</i> Mutation 由 Steven Lubbe, Maria Chiara Di Bernardo, Ian Chandler, Richard S. Houlston

    出版 2009
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  2. 2
    Evaluation of NTHL1, NEIL1, NEIL2, MPG, TDG, UNG and SMUG1genes in familial colorectal cancer predisposition

    Evaluation of NTHL1, NEIL1, NEIL2, MPG, TDG, UNG and SMUG1genes in familial colorectal cancer predisposition 由 Peter Broderick, Tina Bagratuni, Jairam Vijayakrishnan, Steven Lubbe, Ian Chandler, Richard S. Houlston

    出版 2006
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  3. 3
    Alterations in Blood Methylome as Potential Epigenetic Biomarker in Sporadic Parkinson's Disease

    Alterations in Blood Methylome as Potential Epigenetic Biomarker in Sporadic Parkinson's Disease 由 Paulina González-Latapí, Bernabé I. Bustos, Siyuan Dong, Steven Lubbe, Tanya Simuni, Dimitri Krainc

    出版 2024
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  4. 4
    Genetic risk and age in Parkinson's disease: Continuum not stratum

    Genetic risk and age in Parkinson's disease: Continuum not stratum 由 Mike A. Nalls, Valentina Escott‐Price, Nigel Williams, Steven Lubbe, Margaux F. Keller, Huw R. Morris, Andrew Singleton

    出版 2015
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  5. 5
    National study of colorectal cancer genetics

    National study of colorectal cancer genetics 由 Steven Penegar, Wendy Wood, Steven Lubbe, Isabelle Chandler, Peter Broderick, Elli Papaemmanuil, Gabrielle S. Sellick, Richard Gray, Julian Peto, Richard S. Houlston

    出版 2007
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  6. 6
    Polygenic risk of <scp>P</scp>arkinson disease is correlated with disease age at onset

    Polygenic risk of <scp>P</scp>arkinson disease is correlated with disease age at onset 由 Valentina Escott‐Price, Mike A. Nalls, Huw R. Morris, Steven Lubbe, Alexis Brice, Thomas Gasser, Peter Heutink, Nicholas Wood, John Hardy, Andrew Singleton, Nigel Williams

    出版 2015
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  7. 7
    Assessing the relationship between monoallelic <i>PRKN</i> mutations and Parkinson’s risk

    Assessing the relationship between monoallelic <i>PRKN</i> mutations and Parkinson’s risk 由 Steven Lubbe, Bernabé I. Bustos, Jing Hu, Dimitri Krainc, Theresita Joseph, Jason Hehir, Manuela Tan, Weijia Zhang, Valentina Escott‐Price, Nigel Williams, Cornelis Blauwendraat, Andrew Singleton, Huw R. Morris

    出版 2021
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  8. 8
    Homozygous might be hemizygous: CRISPR/Cas9 editing in iPSCs results in detrimental on-target defects that escape standard quality controls

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

    出版 2022
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  9. 9
    Dyshomeostatic modulation of Ca2+-activated K+ channels in a human neuronal model of KCNQ2 encephalopathy

    Dyshomeostatic modulation of Ca2+-activated K+ channels in a human neuronal model of KCNQ2 encephalopathy 由 Dina Simkin, Kelly A. Marshall, Carlos G. Vanoye, Reshma R. Desai, Bernabé I. Bustos, Brandon N Piyevsky, Juan A. Ortega, Marc P. Forrest, Gabriella L. Robertson, Peter Penzes, Linda Laux, Steven Lubbe, J Gordon Millichap, Alfred L. George, Evangelos Kiskinis

    出版 2021
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  10. 10
    Distinct clinical and neuropathological features of G51D SNCA mutation cases compared with SNCA duplication and H50Q mutation

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

    出版 2015
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  11. 11
    Frequency and phenotypic spectrum of <i>KMT2B</i> dystonia in childhood: A single‐center cohort study

    Frequency and phenotypic spectrum of <i>KMT2B</i> dystonia in childhood: A single‐center cohort study 由 Miryam Carecchio, Federica Invernizzi, Paulina González-Latapí, Celeste Panteghini, Giovanna Zorzi, Luigi Romito, Vincenzo Leuzzi, Serena Galosi, Chiara Reale, Federica Zibordi, Agnel Praveen Joseph, Maya Topf, Carla Piano, Anna Rita Bentivoglio, F. Girotti, Paolo Morana, Benedetto Morana, Manju A. Kurian, Barbara Garavaglia, Niccolò E. Mencacci, Steven Lubbe, Nardo Nardocci

    出版 2019
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  12. 12
    Additional rare variant analysis in Parkinson’s disease cases with and without known pathogenic mutations: evidence for oligogenic inheritance

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

    出版 2016
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  13. 13
    A large-scale meta-analysis to refine colorectal cancer risk estimates associated with MUTYH variants

    A large-scale meta-analysis to refine colorectal cancer risk estimates associated with MUTYH variants 由 Evropi Τheodoratou, Harry Campbell, Albert Tenesa, Richard S. Houlston, Emily L. Webb, Steven Lubbe, Peter Broderick, Steven Gallinger, E M Croitoru, Mark A. Jenkins, Aung Ko Win, Sean P. Cleary, Thibaud Koessler, Paul D.P. Pharoah, Sébastien Küry, Stéphane Bézieau, Bruno Buecher, Nathan A. Ellis, Paolo Peterlongo, Kenneth Offit, Lauri A. Aaltonen, Susa Enholm, Annika Lindblom, X-L Zhou, Ian Tomlinson, Vı́ctor Moreno, Ignacio Blanco, Gabriel Capellà, Rebecca A. Barnetson, Mary Porteous, Malcolm G. Dunlop, Susan M. Farrington

    出版 2010
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  14. 14
    Discovery and functional prioritization of Parkinson’s disease candidate genes from large-scale whole exome sequencing

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

    出版 2017
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  15. 15
    NeuroX, a fast and efficient genotyping platform for investigation of neurodegenerative diseases

    NeuroX, a fast and efficient genotyping platform for investigation of neurodegenerative diseases 由 Mike A. Nalls, José Brás, Dena G. Hernandez, Margaux F. Keller, Elisa Majounie, Alan E. Renton, Mohamad Saad, Iris E. Jansen, Rita Guerreiro, Steven Lubbe, Vincent Plagnol, J. Raphael Gibbs, Claudia Schulte, Nathan Pankratz, Margaret Sutherland, Lars Bertram, Christina M. Lill, Anita L. DeStefano, Tatiana Faroud, Nicholas Eriksson, Joyce Y. Tung, Connor Edsall, Noah Nichols, Janet Brooks, Sampath Arepalli, Hannah A. Pliner, Christopher T. Letson, Peter Heutink, María Martínez, Thomas Gasser, Bryan J. Traynor, Nicholas Wood, John Hardy, Andrew Singleton

    出版 2014
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  16. 16
    <scp><i>EIF2AK2</i></scp> Missense Variants Associated with Early Onset Generalized Dystonia

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

    出版 2020
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  17. 17
    NeuroBooster Array: A Genome-Wide Genotyping Platform to Study Neurological Disorders Across Diverse Populations

    NeuroBooster Array: A Genome-Wide Genotyping Platform to Study Neurological Disorders Across Diverse Populations 由 Sara Bandrés‐Ciga, Faraz Faghri, Elisa Majounie, Mathew J. Koretsky, Jeffrey Kim, Kristin Levine, Hampton L. Leonard, Mary B. Makarious, Hirotaka Iwaki, Peter Wild Crea, Dena Hernández, Sampath Arepalli, Kimberley J. Billingsley, Katja Lohmann, Christine Klein, Steven Lubbe, Edwin Jabbari, Paula Saffie Awad, Derek P. Narendra, Armando Reyes‐Palomares, John P. Quinn, Claudia Schulte, Huw R. Morris, Bryan J. Traynor, Sonja W. Scholz, Henry Houlden, John Hardy, Sonya B. Dumanis, Ekemini Riley, Cornelis Blauwendraat, Andrew Singleton, Mike A. Nalls, Janina M. Jeff, Dan Vitale

    出版 2023
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  18. 18
    <scp>NeuroBooster</scp> Array: A Genome‐Wide Genotyping Platform to Study Neurological Disorders Across Diverse Populations

    <scp>NeuroBooster</scp> Array: A Genome‐Wide Genotyping Platform to Study Neurological Disorders Across Diverse Populations 由 Sara Bandrés‐Ciga, Faraz Faghri, Elisa Majounie, Mathew J. Koretsky, Jeffrey Kim, Kristin Levine, Hampton L. Leonard, Mary B. Makarious, Hirotaka Iwaki, Peter Wild Crea, Dena Hernández, Sampath Arepalli, Kimberley J. Billingsley, Katja Lohmann, Christine Klein, Steven Lubbe, Edwin Jabbari, Paula Saffie Awad, Derek P. Narendra, Armando Reyes‐Palomares, John P. Quinn, Claudia Schulte, Huw R. Morris, Bryan J. Traynor, Sonja W. Scholz, Henry Houlden, John Hardy, Sonya B. Dumanis, Ekemini Riley, Cornelis Blauwendraat, Andrew Singleton, Mike A. Nalls, Janina M. Jeff, Dan Vitale

    出版 2024
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  19. 19
    Deletions at 22q11.2 in idiopathic Parkinson's disease: a combined analysis of genome-wide association data

    Deletions at 22q11.2 in idiopathic Parkinson's disease: a combined analysis of genome-wide association data 由 Kin Y. Mok, Una Sheerin, Javier Simón‐Sánchez, Afnan Salaka, Lucy Chester, Valentina Escott‐Price, Kiran K. Mantripragada, Karen A. Doherty, Alastair Noyce, Niccolò E. Mencacci, Steven Lubbe, Caroline H. Williams‐Gray, Roger A. Barker, Karin D. van Dijk, Henk W. Berendse, Peter Heutink, Jean‐Christophe Corvol, Florence Cormier, Suzanne Lesage, Alexis Brice, Kathrin Brockmann, Claudia Schulte, Thomas Gasser, Thomas Foltynie, Patricia Limousin, Karen Morrison, Carl E Clarke, Stephen Sawcer, Thomas T. Warner, Andrew J. Lees, Huw R. Morris, Mike A. Nalls, Andrew Singleton, John Hardy, Andrey Y. Abramov, Vincent Plagnol, Nigel Williams, Nicholas Wood

    出版 2016
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  20. 20
    NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases

    NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases 由 Cornelis Blauwendraat, Faraz Faghri, Lasse Pihlstrøm, Joshua T. Geiger, Alexis Elbaz, Suzanne Lesage, Jean‐Christophe Corvol, Patrick May, Aude Nicolas, Yevgeniya Abramzon, Natalie A. Murphy, J. Raphael Gibbs, Mina Ryten, Raffaele Ferrari, José Brás, Rita Guerreiro, Julie Williams, Rebecca Sims, Steven Lubbe, Dena Hernandez, Kin Y. Mok, Laurie Robak, Roy H. Campbell, Ekaterina Rogaeva, Bryan J. Traynor, Ruth Chia, Sun Ju Chung, John Hardy, Alexis Brice, Nicholas Wood, Henry Houlden, Joshua Shulman, Huw R. Morris, Thomas Gasser, Rejko Krüger, Peter Heutink, Manu Sharma, Javier Simón‐Sánchez, Mike A. Nalls, Andrew B. Singleton, Sonja W. Scholz

    出版 2017
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