检索结果 - David Nicholl
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Duplication of amyloid precursor protein (APP), but not prion protein (PRNP) gene is a significant cause of early onset dementia in a large UK series 由 Daniel McNaughton, William Knight, Rita Guerreiro, Natalie S. Ryan, Jessica Lowe, Mark Poulter, David Nicholl, John Hardy, Tamas Revesz, James Lowe, Martin N. Rossor, John Collinge, Simon Mead
出版 2010Artigo -
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Activating mutations in <i>STIM1</i> and <i>ORAI1</i> cause overlapping syndromes of tubular myopathy and congenital miosis 由 Vasyl Nesin, Graham B. Wiley, Maria Kousi, E‐Ching Ong, Thomas Lehmann, David Nicholl, Mohnish Suri, Nortina Shahrizaila, Nicholas Katsanis, Patrick M. Gaffney, Klaas J. Wierenga, Leonidas Tsiokas
出版 2014Artigo -
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Parkin mutations are frequent in patients with isolated early‐onset parkinsonism 由 Magali Periquet, Morwena Latouche, Ebba Lohmann, Nina Rawal, Giuseppe De Michele, Sylvain Ricard, Hélio Afonso Ghizoni Teive, Valérie Fraix, Marie Vidailhet, David Nicholl, Paolo Barone, Nicholas Wood, Salmo Raskin, Jean‐François Deleuze, Y. Agid, Alexandra Dürr, Alexis Brice
出版 2003Artigo -
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Association between Early-Onset Parkinson's Disease and Mutations in the<i>Parkin</i>Gene 由 Christoph B. Lücking, Alexandra Dürr, Vincenzo Bonifati, Jenny Vaughan, Giuseppe De Michele, Thomas Gasser, Biswadjiet S. Harhangi, G. Meco, Patrice Denèfle, Nicholas Wood, Y. Agid, David Nicholl, Monique M.B. Breteler, Ben A. Oostra, Michele De Mari, R. Marconi, Alessandro Filla, Muriel Bonnet, E. Broussolle, P. Timothy Pollak, Olivier Rascol, Marie Rosier, Arnould Arnould, Alexis Brice
出版 2000Artigo -
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Cloning of the Gene Containing Mutations that Cause PARK8-Linked Parkinson's Disease 由 Coro Paisán-Ruı́z, Shushant Jain, E. Whitney Evans, William P. Gilks, Javier Simón, Marcel van der Brug, Adolfo López de Munaín, S. Ferrer Aparicio, A. Gil, Naheed L. Khan, Janel Johnson, Javier Ruiz‐Martínez, David Nicholl, Itxaso Martí, Amets Sáenz, Rohan de Silva, Andrew J. Lees, J.F. Martí-Massó, Jordi Pérez‐Tur, Nicholas Wood, Andrew Singleton
出版 2004Artigo -
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A genetic study of Wilson’s disease in the United Kingdom 由 Alison J. Coffey, Miranda Durkie, Stephen Hague, Kirsten McLay, Jennifer Emmerson, Christine Lo, Stefanie Klaffke, Christopher J. Joyce, Anil Dhawan, Nedim Hadzic, Giorgina Mieli‐Vergani, Richard Kirk, K. Elizabeth Allen, David Nicholl, Siew Cheng Wong, William Griffiths, Sarah Smithson, Nicola Giffin, Ali S. Taha, Sally Connolly, Godfrey T. Gillett, Stuart Tanner, Jim Bonham, Basil Sharrack, Aarno Palotie, Magnus Rattray, Ann Dalton, Oliver Bandmann
出版 2013Artigo -
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Mutations in the gene LRRK2 encoding dardarin (PARK8) cause familial Parkinson's disease: clinical, pathological, olfactory and functional imaging and genetic data 由 Naheed L. Khan, Shushant Jain, John Lynch, Nicola Pavese, Patrick M. Abou‐Sleiman, Janice L. Holton, Daniel G. Healy, William P. Gilks, Mary G. Sweeney, Milan Ganguly, Vaneesha Gibbons, Sonia Gandhi, Jenny Vaughan, L. H. Eunson, Regina Katzenschlager, Juliet Gayton, Graham Lennox, Tamás Révész, David Nicholl, Kailash P. Bhatia, Niall Quinn, David J. Brooks, Andrew J. Lees, Mary B. Davis, Paola Piccini, Andrew Singleton, Nicholas Wood
出版 2005Artigo -
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Long-term Effectiveness of Adjuvant Treatment With Catechol-O-Methyltransferase or Monoamine Oxidase B Inhibitors Compared With Dopamine Agonists Among Patients With Parkinson Dise... 由 Richard Gray, Smitaa Patel, Natalie Ives, Caroline Rick, Rebecca Woolley, Sharon Muzerengi, Alastair Gray, Crispin Jenkinson, Emma McIntosh, Keith Wheatley, Adrian J. Williams, Carl E Clarke, Keith Young, Helen Price, Jonathan Price, Anne Lambert, Robin Reeve, M Sewell, Sally Broome, Adrian J. Williams, Mary Baker, Carl E Clarke, Ray Fitzpatrick, Alastair Gray, Richard Greenhall, Crispin Jenkinson, David Mant, Emma McIntosh, Peter Sandercock, Colin Baugent, Peter Crome, Pui Au, Thomas Boodell, Versha Cheed, Jane Daniels, Francis Dowling, Lorraine Evans, R J Hawker, Surinder Kaur, Caroline Rick, Keith Wheatley, Neil Winkles, David Hingley, Lauren Sturdy, Rebecca Wooley, Ryan Ottridge, Lisa Peto, Nicholas Hilken, Carl Counsell, Linda Caie, Robert Caslake, R. Coleman, Patrick M. Crowley, Linda M. Gerrie, Joanna Gordon, Clare Harris, V. Leslie, M. A. Macleod, Kate Taylor, Paul Worth, Roger A. Barker, Duncan R. Forsyth, M. Halls, John Young, Wendy Phillips, Mark Manford, N. Thangarajah, Debbie Blake, Richard Prescott, P. Carr, Lindy Cochrane, Angela Rose, Andrew McLaren, M. Drover, P. Mahinda Karunaratne, Amanda Eady, Magdalena Wislocka-Kryjak, Naveed Ghaus, A. Grueger, B. Mallinson, G. Wihl, S Ballantyne, Sharon Hutchinson, Alistair Lewthwaite, David Nicholl, Alistair Ritch, Sharon Coyle, R. W. Hornabrook, Hanan Irfan, S. Poxon, Uma Nath, James Davison, Sally Dodds, Gina Robinson, Carol Gray, Peter Fletcher, Philip Morrow, M. Sliva, Edmund Folkes, Anthony Gilbert
出版 2021Artigo -
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LRP10 genetic variants in familial Parkinson's disease and dementia with Lewy bodies: a genome-wide linkage and sequencing study 由 Marialuisa Quadri, Wim Mandemakers, Martyna M. Grochowska, Roy Masius, Hanneke Geut, Edito Fabrizio, Guido J. Breedveld, Demy J.S. Kuipers, Michelle Minneboo, Leonie J.M. Vergouw, Ana Carreras Mascaro, Ekaterina Yonova-Doing, Erik Simons, Tianna Zhao, Alessio Di Fonzo, Hsiu‐Chen Chang, Piero Parchi, Marta Melis, Leonor Correia Guedes, Chiara Criscuolo, Astrid Thomas, Rutger W. W. Brouwer, Daphne Heijsman, Angela Ingrassia, Giovanna Calandra‐Buonaura, Janneke P.A Rood, Sabina Capellari, Annemieke J.M. Rozemüller, Marianna Sarchioto, Hsin Fen Chien, Nicola Vanacore, Simone Olgiati, Yah-Huei Wu-Chou, Tu‐Hsueh Yeh, Agnita J.W. Boon, Susanne E. Hoogers, Mehrnaz Ghazvini, Arne IJpma, Wilfred F. J. van IJcken, Marco Onofrj, Paolo Barone, David Nicholl, Andreas Puschmann, Michele De Mari, Anneke J.A. Kievit, Egberto Reis Barbosa, Giuseppe De Michele, Daniëlle Majoor‐Krakauer, John C. van Swieten, Frank Jan de Jong, Joaquim J. Ferreira, Giovanni Cossu, Chin‐Song Lu, G. Meco, Pietro Cortelli, Wilma D.J. van de Berg, Vincenzo Bonifati, Vincenzo Bonifati, Marialuisa Quadri, Wim Mandemakers, Anneke J.A. Kievit, Agnita J.W. Boon, Janneke P.A Rood, Leonie J.M. Vergouw, Frank Jan de Jong, John C. van Swieten, Francesco Mattace‐Raso, Klaus L. Leenders, Joaquim J. Ferreira, Leonor Correia Guedes, Andreas Puschmann, Emil Ygland, Christer Nilsson, Hsin Fen Chien, Egberto Reis Barbosa, Laura Bannach Jardim, Carlos Roberto de Mello Rieder, Hsiu‐Chen Chang, Chin‐Song Lu, Yah-Huei Wu-Chou, Tu‐Hsueh Yeh, Leonardo Lopiano, Cristina Tassorelli, C. Pacchetti, Giulio Riboldazzi, Giorgio Bono, Cristoforo Comi, Alessandro Padovani, Barbara Borroni, Francesco Raudino, E. Fincati, Michèle Tinazzi, A. Bonizzato, C Ferracci, A. Dalla Libera, Giovanni Abbruzzese, Pietro Cortelli, Sabina Capellari, Roberto Marconi, Marco Guidi
出版 2018Artigo
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