Title:Whole-Exome Sequencing in Familial Parkinson Disease
Author(s):Janice L. Farlow, Laurie Robak, Kurt N. Hetrick, Kevin M. Bowling, Eric Boerwinkle, Zeynep Coban‐Akdemir, Tomasz Gambin, Richard A. Gibbs, Shen Gu, Preti Jain, Joseph Jankovic, Shalini N. Jhangiani, Kaveeta Kaw, Dongbing Lai, Hai Lin, Hua Ling, Yunlong Liu, James R. Lupski, Donna M. Muzny, Paula Porter, Elizabeth Pugh, Janson J. White, Kimberly F. Doheny, R Myers, Joshua Shulman, Tatiana Foroud
Journal Name:JAMA Neurology
Publisher:American Medical Association (AMA)
Vol:73
Issue #:1
Start Page:68
End Page:68
Publication Date:
Open Access(OA) Status:OPEN
License:
DOI - Digital Object Identifier:10.1001/jamaneurol.2015.3266
Title:Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian Mennonites
Author(s):Rachel Saunders‐Pullman, Deborah Raymond, A. Jon Stoessl, Douglas E. Hobson, Toshitaka Nakamura, Seth L. Pullman, D Lefton, Michael S. Okun, Ryan J. Uitti, Rivka Sachdev, Kaili Stanley, Marta San Luciano, J. Hagenah, Richard A. Gatti, Laurie J. Ozelius, Susan Bressman
Title:CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion
Author(s):J.-M. Lee, E.M. Ramos, J.-H. Lee, Tammy Gillis, Jayalakshmi Srinidhi Mysore, Michael R. Hayden, Simon C. Warby, PJ Morrison, Martha Nance, Christopher A. Ross, Russell L. Margolis, Ferdinando Squitieri, S. Orobello, Stefano Di Donato, Estrella Gómez‐Tortosa, Carmen Ayuso, Oksana Suchowersky, R J Trent, Elizabeth McCusker, Andrea Novelletto, Marina Frontali, Randi Jones, Tetsuo Ashizawa, Samuel Frank, Marie Saint‐Hilaire, Steven M. Hersch, H. Diana Rosas, Diane Lucente, Madeline Harrison, Andrea Zanko, Ruth K. Abramson, Karen Marder, Jorge Sequeiros, Jane S. Paulsen, G. Bernhard Landwehrmeyer, Richard H. Myers, Marcy E. MacDonald, James F. Gusella, Alexandra Dürr, Adam Rosenblatt, Luigi Frati, Susan B. Perlman, P. M. Conneally, Mary Lou Klimek, Melissa Diggin, Tiffany C. Hadzi, Ayana Duckett, Anwar Ahmed, Paul Allen, David Ames, Thomas Anderson, Karla J. Anderson, Karen Anderson, Thomasin Andrews, John Ashburner, Eric Axelson, Elizabeth Aylward, Roger A. Barker, Katrin Barth, Stacey K. Barton, Kathleen Baynes, Alexandra Bea, Erik B. Beall, Mirza Faisal Beg, Leigh J. Beglinger, Kevin Biglan, K. Björk, Steve Blanchard, Jeremy Bockholt, Sudharshan Reddy Bommu, Bradley G. Brossman, Maggie Burrows, Vince D. Calhoun, Noelle E. Carlozzi, Amy M. Chesire, Edmond Chiu, Phyllis Chua, R.J. Connell, Carmela Connor, Jody Corey‐Bloom, David Craufurd, Stephen Cross, Lucette A. Cysique, Rachelle Dar Santos, Jennifer Davis, Joji Decolongon, A. Dipietro, Nicholas Doucette, Nancy R. Downing, Ann Dudler, Steve Dunn, Daniel Ecker, Eric A. Epping, Diane Erickson, Cheryl Erwin, Kenneth Evans, Stewart A. Factor, Sarah Tomaszewski Farias, Marta Fatas, Jess G. Fiedorowicz, Ruth Fullam, Sarah Furtado, Mónica Bascuñana Garde, Carissa Gehl, Michael D. Geschwind, Anita M.Y. Goh, Jon Gooblar, Anna Goodman, Jane Griffith, Mark Groves, Mark Guttman, Joanne M. Hamilton, Deborah L. Harrington, Greg Harris, Robert K. Heaton, Karl Helmer, Machelle Henneberry, Tamara Hershey, Kelly Herwig, Elizabeth Howard, Christine Hunter, Joseph Jankovic, Hans J. Johnson, A. N. Johnson, Kathy Jones, Andrew R. Juhl, Eun Young Kim, Mycah Kimble, Pamela King, Mary Lou Klimek, Stefan Klöppel, Katherine Koenig, Angela Komiti, Rajeev Kumar, Douglas R. Langbehn, Blair R. Leavitt, Anne Leserman, Kelvin O. Lim, Hillary Lipe, Mark J. Lowe, Vincent A. Magnotta, William Mallonee, Nicole Mans, Jacquie Marietta, Frederick J. Marshall, W. R. Wayne Martin, Sarah L. Mason, Kirsty Matheson, Wayne R. Matson, Pietro Mazzoni, William McDowell, Zosia Miedzybrodzka, Michael I. Miller, James A. Mills, Dawn Miracle, Kelsey Montross, David D. Moore, S. Mori, David J. Moser, Carol Moskowitz, Emily R. Newman, Peg Nopoulos, Marianne Novak, Justin J. F. O’Rourke, David Oakes, William G. Ondo, Michael Orth, Peter K. Panegyres, Karen R. Pease, Susan B. Perlman, Joel S. Perlmutter, Asa Peterson, Michael Phillips, Ron Pierson, Steven G. Potkin, J. Samuel Preston, Kimberly A. Quaid, Dawn Radtke, D. O. Rae, Stephen M. Rao, Lynn A. Raymond, Sarah Reading, Rebecca E. Ready, Christine Reece, Ralf Reilmann, Norm Reynolds, Kylie Richardson, Hugh Rickards, Eunyoe Ro, Robert A. Robinson, Robert L. Rodnitzky, Benedict D. Rogers, Adam Rosenblatt, Elisabeth Rosser, Anne Rosser, Kathy Price, Kathy Price, Pat Ryan, David P. Salmon, Ali Samii, Jamy Schumacher, Jessica R. Schumacher, Jose Luis Lópenz Sendon, Paula K. Shear, Alanna Sheinberg, Barnett Shpritz, Karen L. Siedlecki, Sheila A. Simpson, Adam D. Singer, Jim Q. Smith, Megan M. Smith, Glenn E. Smith, Pete Snyder, Allen W. Song, Satwinder Sran, Klaas Ε. Stephan, Janice Stober, Sigurd Sü muth, Greg Suter, Sarah J. Tabrizi, Terry Tempkin, Claudia Testa, Sean Thompson, Teri Thomsen, Kelli Thumma, Arthur W. Toga, Sonja Trautmann, Geoff Tremont, Jessica A. Turner, Manuchair Ebadi, Anthony L. Vaccarino, E. van Duijn, Marleen van Walsem, Stacie Vik, Jean Paul Vonsattel, Elizabeth J. Vuletich, Thomas T. Warner, Paula Wasserman, Thomas H. Wassink, Elijah Waterman, Kurt E. Weaver, David Weir, Claire E. Welsh, Chris Werling-Witkoske, Melissa Wesson, Holly James Westervelt, Patrick Weydt, Vicki Wheelock, Kent C. Williams, Janet K. Williams, Mary Wodarski, Joanne Wojcieszek, Jessica Wood, Cathy Wood‐Siverio, Shuhua Wu, Olga Yastrubetskaya, Justo García de Yébenes, Yong Qiang Zhao, Janice L. Zimbelman, Roland Zschiegner, Olaf Aaserud, Giovanni Abbruzzese, Thomasin Andrews, Jurgin Andrich, Jakub Antczak, Natalie Arran, María José Saiz Artiga, Anne‐Catherine Bachoud‐Lévi, Krysztof Banaszkiewicz, M. Poggio, Oliver Bandmann, Miguel Aguilar Barberá, Roger A. Barker, Francisco Javier Barrero, Katrin Barth, Jordi Bas, Antoine Beister, Anna Rita Bentivoglio, Elisabetta Bertini, Ida Biunno, Kathrine Bjørgo, Inga Bjørnevoll, Stefan Bohlen, Raphael M. Bonelli, Reineke Bos, Colin Bourne, Alyson Bradbury, Peter Brockie, Felicity Brown, Stefania Bruno, Anna Bryl, Andrea Buck, Sabrina Burg, Jean‐Marc Burgunder, Peter Burns, Liz Burrows, Núria Busquets, Monica Busse, Matilde Calopa, Gemma Tome Carruesco, Ana Gonzalez Casado, Judit López Catena, Carol Chu, Anna Ciesielska, Jackie Clapton, Carole Clayton, Catherine Clenaghan, Miguel Coelho, Julia Connemann, David Craufurd, Jenny Crooks, Patricia Trigo Cubillo, Esther Cubo, Adrienne Curtis, Giuseppe De Michele, Antonio De Nicola, Jenny de Souza, A. Marit de Weert, Justo García de Yébenes, M. Dekker, Asunción Martínez Descals, Luigi Di Maio, Anna Di Pietro, Heather Dipple, M. Dose, Eve M. Dumas, Stephen B. Dunnett, Daniel Ecker, Francesca Elifani, Lynda Ellison-Rose, Marina D. Elorza, Carolin Eschenbach, Carole Evans, Helen Fairtlough, Madelein Fannemel, Alfonso Fasano, María del Mar Fenollar, Giovanna Ferrandes, Jaoquim J. Ferreira, Kay Fillingham, Ana Maria Finisterra, Kate Fisher, Amy Fletcher, Jillian Foster, Isabella Foustanos, Fernando Alonso Frech, Robert Fullam, Ruth Fullham, Miguel Gago, R. de Francisco García, Socorro S. García, Carolina Garrett, Cinzia Gellera, Paul R. Gill, Andrea Ginestroni, Charlotte Golding, Anna Goodman, Per F. Gørvell, Janet Grant, Anna Maria Griguoli, Diana Gross, Leonor Correia Guedes, Monica BascuñanaGuerra, Maria Rosália Guerra, Rosa Guerrero, D. Badenes Guía, Arianna Guidubaldi, Caroline Hallam, Stephanie Hamer, K. Hammer, Olivia Handley, Alison Harding, Lis Hasholt, R.M. Hedge, Arvid Heiberg, Walburgis Heinicke, Christine Held, Laura Casas Hernanz, Briggitte Herranhof, Carmen Herrera-Espiñeira, Ute Hidding, Heli Hiivola, Susan Hill, Lena E. Hjermind, Emma Hobson, Rainer Hoffmann, Anna Holl, Liz Livingston Howard, Sarah Hunt, Susan Huson, Tàmara Ialongo, Jesús Miguel Ruiz Idiago, Torsten Illmann, Katarzyna Jachińska, Gioia Jacopini, Oda Jakobsen, Stuart W. Jamieson, Zygmunt Jamrozik, Piotr Janik, Nicola Johns, Lesley Jones, Una Jones, Caroline K. Jurgens, Alain Kaelin‐Lang, Anna Kalbarczyk, Ann Kershaw, Hanan Khalil, Janina Kieni, Aneta Klimberg, Susana Pro Koivisto, Kerstin Koppers, Christoph M. Kosinski, Małgorzata Krawczyk, Berry Kremer, Wioletta Krysa, Hubert Kwieciński, Nayana Lahiri, Johann Lambeck, Herwig W. Lange, Fiona Laver, Klaus L. Leenders, Jamie Levey, Gabriele Leythaeuser, Franziska Lezius, Joan Roig Llesoy, Matthias Löhle, Cristobal Diez-Aja López, Fortuna Lorenza, G Loria, Markus Magnet, Paola Mandich, Roberta Marchese, T Marcinkowski, Caterina Mariotti, Natividad Mariscal, Ivana S. Marková, Ralf Marquard, Kirsti Martikainen, Isabel Haro Martínez, Asunción Martínez‐Descals, T. Martino, Sarah L. Mason, Sue McKenzie, Claudia Mechi, Tiago Mendes, Tiago Mestre, Julia Middleton, Eva Milkereit, J. Philip Miller, Julie Miller, Sara Minster, Jens Carsten Möller, Daniela Monza, Blas Morales, L. Vivancos, José Luis López-Sendón, Alexander Münchau, Ann Murch, Jørgen E. Nielsen, Anke Niess, Anne Nørremølle, Marianne Novak, Kristy O'Donovan, Michael Orth, Daniela Otti, Michael J. Owen, Hélène Padieu, M. Paganini, Annamaria Painold, Markku Päivärinta, Lucy Partington-Jones, Laurent Paterski, Nicole D. Paterson, Dawn Freire- Patino, Michael J. Patton, Alexander Peinemann, Nadia Peppa, María Fuensanta Noguera Perea, Maria Peterson, Silvia Piacentini, Carla Piano, Regina Pons i Càrdenas, Christian Prehn, Kathleen Price, Daniela Probst, Oliver Quarrell, Purificacion Pin Quiroga, Tina Raab, Maria Rakowicz, Ashok Raman, Lucy Raymond, Ralf Reilmann, Gema Reinante, Karin Reisinger, Lars Retterstøl, Pascale Ribaı̈, Antonio Villa Riballo, Guillermo García Ribas, Sven Richter, Hugh Rickards, Carlo Rinaldi, Ida Rissling, Stuart J. Ritchie, Susana Vázquez Rivera, Misericordia Floriach Robert, Elvira Roca, Silvia Romano, Anna Maria Romoli, Raymond A.C. Roos, Niini Røren, Sarah Rose, Elisabeth Rosser, Anne Rosser, F. Rossi, Jean Rothery, Monika Rudzińska, Pedro Ruiz, Belan Garzon Ruíz, Cinzia Valeria Russo, Danuta Ryglewicz, Carsten Saft, Elena Salvatore, Vicenta Sánchez, Sigrid Botne Sando, Pavla Šašinková, Christian Saß, Monika Scheibl, Johannes Schiefer, Christiane Schlangen, Simone Schmidt, Helmut Schöggl, Caroline Schrenk, Michaël Schüpbach, Michele Schuierer, Ana Rojo Sebastián, Amina Selimbegovic-Turkovic, Justyna Sempołowicz, Mark Silva, Emilia J. Sitek, Jarosław Sławek, Julie S. Snowden, Francesco Soleti, Paola Soliveri, Andrea Sollom, Witold Sołtan, Sandro Sorbi, Sven Asger Sørensen, M. Spadaro, Michael Städtler, Christiane Stamm, Tanja Steiner, Jette Stokholm, Bodil Stokke, Cheryl Stopford, Alexander Storch, Katrin Straßburger, Lars Stubbe, Anna Sułek, Andrzej Szczudlik, Sarah J. Tabrizi, Rachel Taylor, Santiago Duran-Sindreu Terol, Gareth Thomas, J. C. Thompson, Aileen Thomson, Katherine Tidswell, María Martirio Antequera Torres, Jean Toscano, Jenny Townhill, Sonja Trautmann, Tecla Tucci, Katri Tuuha, Tereza Uhrová, Anabela Valadas, Monique S.E. van Hout, Joost C.H. van Oostrom, Jeroen P.P. van Vugt, Walsem Marleen R. vanm, Wim Vandenberghe, Christine Verellen‐Dumoulin, M Vergara, C.C.P. Verstappen, Nichola Verstraelen, Cèlia Mareca Viladrich, Clara Villanueva, Jan Wahlström, Thomas T. Warner, R. Wehus, A. Weindl, Cornelius J. Werner, Leann Westmoreland, Patrick Weydt, Alexandra Wiedemann, Edward J. Wild, Sue Wild, Marie‐Noëlle W. Witjes‐Ané, Grzegorz Witkowski, Magdalena Wójcik-Pędziwiatr, Martin Wolz, Annett Wolz, Jan Wright, Pam Yardumian, Shona Yates, Elizaveta Yudina, Jacek Zaremba, Sabine Weber Zaugg, Elżbieta Zdzienicka, Daniel Zielonka, Euginiusz Zielonka, Paola Zinzi, Simone Zittel, B. Zucker, John Adams, Pinky Agarwal, Irina Antonijevic, Christopher A. Beck, Edmond Chiu, Andrew Churchyard, Amy Colcher, Jody Corey‐Bloom, Ray Dorsey, Carolyn Drazinic, Richard Dubinsky, Karen Duff, Stewart A. Factor, Tatiana Foroud, Sarah Furtado, Joe Giuliano, J. Timothy Greenamyre, Donald S. Higgins, Joseph Jankovic, Dana Jennings, Un Jung Kang, Sandra K. Kostyk, Rajeev Kumar, Blair R. Leavitt, Mark S. LeDoux, William Mallonee, Frederick J. Marshall, Eric Mohlo, John C. Morgan, David Oakes, Peter K. Panegyres, Michel Panisset, Susan B. Perlman, Joel S. Perlmutter, Kimberly A. Quaid, Lynn A. Raymond, Fredy J. Revilla, Suzanne Robertson, B. Robottom, Juan Sanchez‐Ramos, B.L. Scott, Kathleen M. Shannon, Ira Shoulson, Carlos Singer, Samer D. Tabbal, Claudia Testa, Kammen Dan van, Louise Vetter, Francis O. Walker, John Harley Warner, illiam Weiner, Vicki Wheelock, Olga Yastrubetskaya, Stacey K. Barton, Janice Broyles, Ronda Clouse, Allison Coleman, Robert E. Davis, Joji Decolongon, J.-L. de-la-Rosa, Lisa M. Deuel, Susan Dietrich, Hilary Dubinsky, Ken Eaton, Diane Erickson, Mary Jane Fitzpatrick, Steven J. Frucht, Maureen Gartner, Jody Goldstein, Jane Griffith, Charlyne Hickey, Victoria Hunt, Jeana Jaglin, Mary Lou Klimek, Pat Lindsay, Elan D. Louis, Clemet Loy, N. Lucarelli, Keith Malarick, Amanda Martin, Robert McInnis, Carol Moskowitz, Lisa M. Muratori, Frederick C. Nucifora, Christine J. O’Neill, Alicia Palao, Guerry M. Peavy, Mónica Quesada, Amy P. Schmidt, Vicki Segro, Elaine Sperin, Greg Suter, Kalo Tanev, Teresa Tempkin, Curtis Thiede, Paula Wasserman, Claire E. Welsh, Melissa Wesson, Elizabeth Zauber
Title:Cognitive performance of GBA mutation carriers with early-onset PD
Author(s):Roy N. Alcalay, Elise Caccappolo, Helen Mejia‐Santana, Ming Tang, L. Rosado, Martha Orbe Reilly, Dylanis Lopez Ruiz, B. Ross, Miguel Verbitsky, Sergey Kisselev, Elan D. Louis, Cynthia Comella, Amy Colcher, Danna Jennings, Martha Nance, Susan Bressman, William K. Scott, Caroline M. Tanner, Stuart J. Mickel, Howard Andrews, Cheryl Waters, Stanley Fahn, L. Côté, Steven J. Frucht, B. Ford, Michael Rezak, Kevin Novak, Joseph H. Friedman, Ronald F. Pfeiffer, Laura Marsh, Bradley C. Hiner, Andrew Siderowf, Haydeh Payami, Eric Molho, Stewart A. Factor, Ruth Ottman, Lorraine N. Clark, Karen Marder
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