Výsledky vyhledávání - Gavin Charlesworth

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  1. 1
    The genetics of dystonia: new twists in an old tale

    The genetics of dystonia: new twists in an old tale Autor Gavin Charlesworth, Kailash P. Bhatia, Nicholas Wood

    Vydáno 2013
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  2. 2
    Ataxia telangiectasia presenting as dopa-responsive cervical dystonia

    Ataxia telangiectasia presenting as dopa-responsive cervical dystonia Autor Gavin Charlesworth, Mahavir D. Mohire, Susanne A. Schneider, María Stamelou, Nicholas Wood, Kailash P. Bhatia

    Vydáno 2013
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  3. 3
    Mutations in HPCA Cause Autosomal-Recessive Primary Isolated Dystonia

    Mutations in HPCA Cause Autosomal-Recessive Primary Isolated Dystonia Autor Gavin Charlesworth, Plamena R. Angelova, Fernando Benito Bartolomé, Mina Ryten, Daniah Trabzuni, María Stamelou, Andrey Y. Abramov, Kailash P. Bhatia, Nicholas Wood

    Vydáno 2015
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  4. 4
    Screening for VPS35 mutations in Parkinson's disease

    Screening for VPS35 mutations in Parkinson's disease Autor Una‐Marie Sheerin, Gavin Charlesworth, José Brás, Rita Guerreiro, Kailash P. Bhatia, Thomas Foltynie, Patricia Limousin, Laura Silveira‐Moriyama, Andrew J. Lees, Nicholas Wood

    Vydáno 2011
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  5. 5
    The phenotypic spectrum of DYT24 due to ANO3 mutations

    The phenotypic spectrum of DYT24 due to ANO3 mutations Autor María Stamelou, Gavin Charlesworth, Carla Cordivari, Susanne A. Schneider, Georg Kägi, Una‐Marie Sheerin, Ignacio Rubio‐Agusti, Amit Batla, Henry Houlden, Nicholas Wood, Kailash P. Bhatia

    Vydáno 2014
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  6. 6
    <i>C9ORF72</i> expansions, parkinsonism, and Parkinson disease

    <i>C9ORF72</i> expansions, parkinsonism, and Parkinson disease Autor Johnathan Cooper‐Knock, Antonina Frolov, J. Robin Highley, Gavin Charlesworth, Janine Kirby, Antonio Milano, Judith Hartley, Paul G. Ince, Christopher McDermott, Tammaryn Lashley, Tamás Révész, Pamela J. Shaw, Nicholas Wood, Oliver Bandmann

    Vydáno 2013
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  7. 7
    Mutations in ANO3 Cause Dominant Craniocervical Dystonia: Ion Channel Implicated in Pathogenesis

    Mutations in ANO3 Cause Dominant Craniocervical Dystonia: Ion Channel Implicated in Pathogenesis Autor Gavin Charlesworth, Vincent Plagnol, Kira M. Holmström, José Brás, Una‐Marie Sheerin, Elisavet Preza, Ignacio Rubio‐Agusti, Mina Ryten, Susanne A. Schneider, María Stamelou, Daniah Trabzuni, Andrey Y. Abramov, Kailash P. Bhatia, Nicholas Wood

    Vydáno 2012
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  8. 8
    A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease

    A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease Autor Peter Holmans, Valentina Moskvina, Lesley Jones, Manu Sharma, Alexey Vedernikov, Finja Büchel, Mohamad Sadd, José Brás, Francesco Bettella, Nayia Nicolaou, Javier Simón‐Sánchez, Florian Mittag, J. Raphael Gibbs, Claudia Schulte, Alexandra Dürr, Rita Guerreiro, Dena G. Hernandez, Alexis Brice, Hreinn Stefánsson, Kari Majamaa, Thomas Gasser, Peter Heutink, Nicholas Wood, María Martínez, Andrew Singleton, Michael A. Nalls, John Hardy, Huw R. Morris, Nigel Williams, Sampath Arepalli, Roger A. Barker, Jeffrey C. Barrett, Yoav Ben‐Shlomo, Henk W. Berendse, Daniela Berg, Kailash P. Bhatia, Rob M.A. de Bie, Alessandro Biffi, Bas R. Bloem, Alexis Brice, Zoltán Bochdanovits, Michael Bonin, José Brás, Kathrin Brockmann, Janet Brooks, David J. Burn, Gavin Charlesworth, Honglei Chen, Patrick F. Chinnery, Sean Chong, Carl E Clarke, Mark Cookson, Jonathan M. Cooper, Jean‐Christophe Corvol, Carl Counsell, Philippe Damier, Jean François Dartigues, Panos Deloukas, Günther Deuschl, David T. Dexter, Karin D. van Dijk, Allissa Dillman, F. Durif, Alexandra Dürr, Sarah Edkins, Jonathan Evans, Thomas Foltynie, Jianjun Gao, Michelle Gardner, Thomas Gasser, J. Raphael Gibbs, Alison Goate, Emma Gray, Rita Guerreiro, Ómar Gústafsson, John Hardy, Clare Harris, Dena G. Hernandez, Peter Heutink, Jacobus J. van Hilten, Albert Hofman, Albert R. Hollenbeck, Peter Holmans, Janice L. Holton, Joshua Shulman, Heiko Huber, Gavin Hudson, Sarah Hunt, Johanna Huttenlocher, Thomas Illig, Cordelia Langford, Andrew J. Lees, Suzanne Lesage, Peter Lichtner, Patricia Limousin, Grisel Lopez, Delia Lorenz, María Martínez, Alisdair McNeill, Catriona Moorby

    Vydáno 2012
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  9. 9
    A Two-Stage Meta-Analysis Identifies Several New Loci for Parkinson's Disease

    A Two-Stage Meta-Analysis Identifies Several New Loci for Parkinson's Disease Autor Vincent Plagnol, Michael A. Nalls, José Brás, D.G. Hernandez, Manu Sharma, Una‐Marie Sheerin, Mohamad Saad, Javier Simón‐Sánchez, Claudia Schulte, Suzanne Lesage, Sigurlaug Sveinbjörnsdóttir, Philippe Amouyel, Sampath Arepalli, Roger A. Barker, C. Bellinguez, Yoav Ben‐Shlomo, Henk W. Berendse, Daniela Berg, Kailash P. Bhatia, Rob M.A. de Bie, Alessandro Biffi, B.R. Bloem, Zoltán Bochdanovits, Marina de Nadai Bonin Gomes, Kathrin Brockmann, Janet Brooks, David J. Burn, Gavin Charlesworth, Honglei Chen, Patrick F. Chinnery, S. A. Chong, Carl E Clarke, Mark Cookson, Jonathan M. Cooper, Jean‐Christophe Corvol, Carl Counsell, Philippe Damier, J.F. Dartigues, Panos Deloukas, Günther Deuschl, David T. Dexter, Karin D. van Dijk, Allissa Dillman, F. Durif, Alexandra Dürr, Sarah Edkins, Jonathan Evans, Thomas Foltynie, Colin L. Freeman, Jingping Gao, Michelle Gardner, J. Raphael Gibbs, Alison Goate, Emma Gray, Rita Guerreiro, Ómar Gústafsson, Curtis C. Harris, Garrett Hellenthal, Jacobus J. van Hilten, Albert Hofman, A. R. Hollenbeck, Janice L. Holton, Joshua Shulman, Xia Huang, H Huber, Gavin Hudson, Sarah Hunt, Johanna Huttenlocher, Thomas Illig, Pálmi V. Jónsson, Cordelia Langford, Andrew J. Lees, Peter Lichtner, Patricia Limousin, Grisel Lopez, D. Lorenz, A. McNeill, Catriona Moorby, Matthew Moore, Huw R. Morris, Karen Morrison, Ese Mudanohwo, Sean S. O’Sullivan, John F. Pearson, Richard D. Pearson, Joel S. Perlmutter, Hannes Pétursson, M. Pirinen, Pierre Pollak, Bart Post, Sally Potter, Bernard Ravina, Tamás Révész, Olaf Rieß, Fernando Rivadeneira, Patrizia Rizzu, Mina Ryten, Stephen Sawcer, Peter Heutink, Nicholas Wood

    Vydáno 2011
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  10. 10
    Unbiased screen for interactors of leucine-rich repeat kinase 2 supports a common pathway for sporadic and familial Parkinson disease

    Unbiased screen for interactors of leucine-rich repeat kinase 2 supports a common pathway for sporadic and familial Parkinson disease Autor A Beilina, Iakov N. Rudenko, Alice Kaganovich, Laura Civiero, Hien Chau, Suneil K. Kalia, Lorraine V. Kalia, Evy Lobbestael, Ruth Chia, Kelechi Ndukwe, Joshua Shulman, Mike A. Nalls, Maciej B. Olszewski, David N. Hauser, Ravindran Kumaran, Andrés M. Lozano, Veerle Baekelandt, Lois E. Greene, Jean‐Marc Taymans, Elisa Greggio, Mark Cookson, Mike A. Nalls, Vincent Plagnol, María Martínez, Dena G. Hernandez, Manu Sharma, Una‐Marie Sheerin, Mohamad Saad, Javier Simón‐Sánchez, Claudia Schulte, Suzanne Lesage, Sigurlaug Sveinbjörnsdóttir, Sampath Arepalli, Roger A. Barker, Yoav Ben‐Shlomo, Henk W. Berendse, Daniela Berg, Kailash P. Bhatia, Rob M.A. de Bie, Alessandro Biffi, Bas R. Bloem, Zoltán Bochdanovits, Michael Bonin, José Brás, Kathrin Brockmann, Janet Brooks, David J. Burn, Gavin Charlesworth, Honglei Chen, Sean Chong, Carl E Clarke, Mark Cookson, Jonathan M. Cooper, Jean‐Christophe Corvol, Carl Counsell, Philippe Damier, Jean‐François Dartigues, Panos Deloukas, Günther Deuschl, David T. Dexter, Karin D. van Dijk, Allissa Dillman, F. Durif, Alexandra Dürr, Sarah Edkins, Jonathan Evans, Thomas Foltynie, Jianjun Gao, Michelle Gardner, J. Raphael Gibbs, Alison Goate, Emma Gray, Rita Guerreiro, Ómar Gústafsson, Clare Harris, Jacobus J. van Hilten, Albert Hofman, Albert R. Hollenbeck, Janice L. Holton, Joshua Shulman, Xuemei Huang, Heiko Huber, Gavin Hudson, Sarah Hunt, Johanna Huttenlocher, Thomas Illig, Helmholtz Zentrum München, Pálmi V. Jónsson, Jean‐Charles Lambert, Cordelia Langford, Andrew J. Lees, Peter Lichtner, Helmholtz Zentrum München, Patricia Limousin, Grisel Lopez, Delia Lorenz, Alisdair McNeill, Catriona Moorby, M. Elyse Moore, Huw R. Morris

    Vydáno 2014
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  11. 11
    The Val158Met COMT polymorphism is a modifier of the age at onset in Parkinson's disease with a sexual dimorphism

    The Val158Met COMT polymorphism is a modifier of the age at onset in Parkinson's disease with a sexual dimorphism Autor Sonja Klebe, Jean Louis Golmard, Michael A. Nalls, Mohamad Saad, Andrew B. Singleton, José Brás, John Hardy, Javier Simón‐Sánchez, Peter Heutink, Gregor Kuhlenbäumer, Rim Charfi, Christine Klein, J. Hagenah, Thomas Gasser, Isabel Wurster, Suzanne Lesage, D. Lorenz, Günther Deuschl, F. Durif, Pierre Pollak, Philippe Damier, François Tison, A. Dürr, Philippe Amouyel, Jean‐Charles Lambert, Christophe Tzourio, C. Maubaret, Fanny Charbonnier‐Beaupel, Khadija Tahiri, Marie Vidailhet, María Martínez, Alexis Brice, Jean‐Christophe Corvol, Y. Agid, Mathieu Anheim, Muriel Bonnet, Michael Borg, Alexis Brice, E. Broussolle, Jean‐Christophe Corvol, Philippe Damier, A. Destée, A. Dürr, Franck Durif, Sonja Klebe, Ebba Lohmann, María Martínez, Christiane Penet, Pierre Pollak, Paul Krack, Olivier Rascol, François Tison, Christine Tranchant, Marc Vérin, François Viallet, Vincent Plagnol, José Brás, D. G. Hernandez, Manu Sharma, Una‐Marie Sheerin, Mohamad Saad, Javier Simón‐Sánchez, Claudia Schulte, Suzanne Lesage, Sigurlaug Sveinbjörnsdóttir, Philippe Amouyel, Sampath Arepalli, Guido P. H. Band, Roger A. Barker, C. Bellinguez, Yoav Ben‐Shlomo, Henk W. Berendse, Daniela Berg, Kailash P. Bhatia, Rob M.A. de Bie, Alessandro Biffi, B.R. Bloem, Zoltán Bochdanovits, Marina de Nadai Bonin Gomes, Kathrin Brockmann, Janet Brooks, David J. Burn, Gavin Charlesworth, Honglei Chen, Patrick F. Chinnery, S. A. Chong, C. E. Clarke, Mark Cookson, Jonathan M. Cooper, Jean‐Christophe Corvol, Carl Counsell, Philippe Damier, J.-F. Dartigues, P. Deloukas, David T. Dexter, Karin D. van Dijk, Allissa Dillman, Franck Durif, Sarah Edkins, Jonathan Evans

    Vydáno 2013
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  12. 12
    Excessive burden of lysosomal storage disorder gene variants in Parkinson’s disease

    Excessive burden of lysosomal storage disorder gene variants in Parkinson’s disease Autor Laurie Robak, Iris E. Jansen, Jeroen van Rooij, André G. Uitterlinden, Robert Kraaij, Joseph Jankovic, Peter Heutink, Joshua Shulman, Mike A. Nalls, Vincent Plagnol, Dena G Hernandez, Manu Sharma, Una‐Marie Sheerin, Mohamad Saad, Javier Simón‐Sánchez, Claudia Schulte, Suzanne Lesage, Sigurlaug Sveinbjörnsdóttir, Sampath Arepalli, Roger A. Barker, Yoav Ben-, Henk W. Berendse, Daniela Berg, Kailash P. Bhatia, Rob M.A. de Bie, Alessandro Biffi, Bas R. Bloem, Zoltán Bochdanovits, Michael Bonin, José Brás, Kathrin Brockmann, Janet Brooks, David J. Burn, Elisa Majounie, Gavin Charlesworth, Codrin Lungu, Honglei Chen, Patrick F. Chinnery, Sean Chong, Carl E Clarke, Mark Cookson, Jonathan M. Cooper, Jean‐Christophe Corvol, Carl Counsell, Philippe Damier, Jean‐François Dartigues, Panos Deloukas, Günther Deuschl, David T. Dexter, Karin D. van Dijk, Allissa Dillman, F. Durif, Alexandra Dürr, Sarah Edkins, Jonathan Evans, Thomas Foltynie, Jing Dong, Michelle Gardner, J. Raphael Gibbs, Alison Goate, Emma Gray, Rita Guerreiro, Clare Harris, Jacobus J. van Hilten, Albert Hofman, Albert R. Hollenbeck, Janice L. Holton, Joshua Shulman, Joshua Shulman, Isabel Wurster, Walter Mätzler, Gavin Hudson, Sarah Hunt, Johanna Huttenlocher, Thomas Illig, Pálmi V. Jónsson, Jean‐Charles Lambert, Cordelia Langford, Andrew J. Lees, Peter Lichtner, Patricia Limousin, Grisel Lopez, Delia Lorenz, Codrin Lungu, Alisdair McNeill, Catriona Moorby, Matthew Moore, Huw R. Morris, Karen Morrison, Valentina Escott‐Price, Ese Mudanohwo, Sean S. O’Sullivan, Justin Pearson, Joel S. Perlmutter, Hjörvar Pétursson, Pierre Pollak, Bart Post, Simon Potter, Bernard Ravina, Tamás Révész

    Vydáno 2017
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