Search Results

There are 157617 results for: content related to: A case of α- synuclein gene duplication presenting with head-shaking movements

  1. Population-specific frequencies for LRRK2 susceptibility variants in the genetic epidemiology of Parkinson's disease (GEO-PD) consortium

    Movement Disorders

    Volume 28, Issue 12, October 2013, Pages: 1740–1744, Michael G. Heckman, Alexandra I. Soto-Ortolaza, Jan O. Aasly, Nadine Abahuni, Grazia Annesi, Justin A. Bacon, Soraya Bardien, Maria Bozi, Alexis Brice, Laura Brighina, Jonathan Carr, Marie-Christine Chartier-Harlin, Efthimios Dardiotis, Dennis W. Dickson, Nancy N. Diehl, Alexis Elbaz, Carlo Ferrarese, Brian Fiske, J. Mark Gibson, Rachel Gibson, Georgios M. Hadjigeorgiou, Nobutaka Hattori, John P.A. Ioannidis, Magdalena Boczarska-Jedynak, Barbara Jasinska-Myga, Beom S. Jeon, Yun Joong Kim, Christine Klein, Rejko Kruger, Elli Kyratzi, Suzanne Lesage, Chin-Hsien Lin, Timothy Lynch, Demetrius M. Maraganore, George D. Mellick, Eugénie Mutez, Christer Nilsson, Grzegorz Opala, Sung Sup Park, Simona Petrucci, Andreas Puschmann, Aldo Quattrone, Manu Sharma, Peter A. Silburn, Young Ho Sohn, Leonidas Stefanis, Vera Tadic, Jessie Theuns, Hiroyuki Tomiyama, Ryan J. Uitti, Enza Maria Valente, Christine Van Broeckhoven, Simone van de Loo, Demetrios K. Vassilatis, Carles Vilariño-Güell, Linda R. White, Karin Wirdefeldt, Zbigniew K. Wszolek, Ruey-Meei Wu, Faycal Hentati, Matthew J. Farrer, Owen A. Ross and on behalf of the Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium

    Version of Record online : 2 AUG 2013, DOI: 10.1002/mds.25600

  2. Cognitive profile of LRRK2-related Parkinson's disease

    Movement Disorders

    Volume 30, Issue 5, 15 April 2015, Pages: 728–733, Sindhu Srivatsal, Brenna Cholerton, James B. Leverenz, Zbigniew K. Wszolek, Ryan J. Uitti, Dennis W. Dickson, Daniel Weintraub, John Q. Trojanowski, Vivianna M. Van Deerlin, Joseph F. Quinn, Kathryn A. Chung, Amie L. Peterson, Stewart A. Factor, Cathy Wood-Siverio, Jennifer G. Goldman, Glenn T. Stebbins, Bryan Bernard, Beate Ritz, Rebecca Rausch, Alberto J. Espay, Fredy J. Revilla, Johnna Devoto, Liana S. Rosenthal, Ted M. Dawson, Marilyn S. Albert, Ignacio F. Mata, Shu-Ching Hu, Kathleen S. Montine, Catherine Johnson, Thomas J. Montine, Karen L. Edwards, Jing Zhang and Cyrus P. Zabetian

    Version of Record online : 4 FEB 2015, DOI: 10.1002/mds.26161

  3. Heart rate variability in leucine-rich repeat kinase 2-associated Parkinson's disease

    Movement Disorders

    Volume 32, Issue 4, April 2017, Pages: 610–614, Naomi P. Visanji, Grace S. Bhudhikanok, Tiago A. Mestre, Taneera Ghate, Kaviraj Udupa, Amaal AlDakheel, Barbara S. Connolly, Carmen Gasca-Salas, Drew S. Kern, Jennifer Jain, Elizabeth J. Slow, Achinoam Faust-Socher, Sam Kim, Ruksana Azhu Valappil, Farah Kausar, Ekaterina Rogaeva, J. William Langston, Caroline M. Tanner, Birgitt Schüle, Anthony E. Lang, Samuel M. Goldman and Connie Marras

    Version of Record online : 10 JAN 2017, DOI: 10.1002/mds.26896

  4. Motor and nonmotor heterogeneity of LRRK2-related and idiopathic Parkinson's disease

    Movement Disorders

    Volume 31, Issue 8, August 2016, Pages: 1192–1202, Connie Marras, Roy N. Alcalay, Chelsea Caspell-Garcia, Christopher Coffey, Piu Chan, John E. Duda, Maurizio F. Facheris, Rubén Fernández-Santiago, Javier Ruíz-Martínez, Tiago Mestre, Rachel Saunders-Pullman, Claustre Pont-Sunyer, Eduardo Tolosa, Bjorg Waro and the LRRK2 Cohort Consortium

    Version of Record online : 19 APR 2016, DOI: 10.1002/mds.26614

  5. Penetrance estimate of LRRK2 p.G2019S mutation in individuals of non-Ashkenazi Jewish ancestry

    Movement Disorders

    Volume 32, Issue 10, October 2017, Pages: 1432–1438, Annie J. Lee, Yuanjia Wang, Roy N. Alcalay, Helen Mejia-Santana, Rachel Saunders-Pullman, Susan Bressman, Jean-Christophe Corvol, Alexis Brice, Suzanne Lesage, Graziella Mangone, Eduardo Tolosa, Claustre Pont-Sunyer, Dolores Vilas, Birgitt Schüle, Farah Kausar, Tatiana Foroud, Daniela Berg, Kathrin Brockmann, Stefano Goldwurm, Chiara Siri, Rosanna Asselta, Javier Ruiz-Martinez, Elisabet Mondragón, Connie Marras, Taneera Ghate, Nir Giladi, Anat Mirelman, Karen Marder and for the Michael J. Fox LRRK2 Cohort Consortium

    Version of Record online : 22 JUN 2017, DOI: 10.1002/mds.27059

  6. Linking a genome-wide association study signal to a LRRK2 coding variant in Parkinson's disease

    Movement Disorders

    Volume 31, Issue 4, April 2016, Pages: 484–487, Jia Nee Foo, Sun Ju Chung, Louis C. Tan, Herty Liany, Ho-Sung Ryu, Myunghee Hong, Tat Hung Koh, Ishak D. Irwan, Wing-Lok Au, Kumar-M. Prakash, Tin Aung, Ching-Yu Cheng, Siow-Ann Chong, Chiea Chuen Khor, Jimmy Lee, E-Shyong Tai, Eranga N. Vithana, Tien-Yin Wong, Kyuyoung Song, Jianjun Liu and Eng-King Tan

    Version of Record online : 21 DEC 2015, DOI: 10.1002/mds.26495

  7. Neuromelanin magnetic resonance imaging of the substantia nigra in LRRK2-related Parkinson's disease

    Movement Disorders

    Volume 32, Issue 9, September 2017, Pages: 1331–1333, Leonor Correia Guedes, Sofia Reimão, Patrícia Paulino, Rita G. Nunes, Raquel Bouça-Machado, Daisy Abreu, Nilza Gonçalves, Tiago Soares, Margherita Fabbri, Catarina Godinho, Patrícia Pita Lobo, Dulce Neutel, Marialuisa Quadri, Miguel Coelho, Mario M. Rosa, Jorge Campos, Tiago F. Outeiro, Cristina Sampaio, Vincenzo Bonifati and Joaquim J. Ferreira

    Version of Record online : 7 JUL 2017, DOI: 10.1002/mds.27083

  8. Prevalence of cancer in Parkinson's disease related to R1441G and G2019S mutations in LRRK2

    Movement Disorders

    Volume 29, Issue 6, May 2014, Pages: 750–755, Javier Ruiz-Martínez, Patricia de la Riva, Maria C. Rodríguez-Oroz, Elisabet Mondragón Rezola, Alberto Bergareche, Ana Gorostidi, Belen Gago, Ainara Estanga, Nerea Larrañaga, Cristina Sarasqueta, Adolfo López de Munain and José F. Martí Massó

    Version of Record online : 19 DEC 2013, DOI: 10.1002/mds.25778

  9. Nigral and striatal connectivity alterations in asymptomatic LRRK2 mutation carriers: A magnetic resonance imaging study

    Movement Disorders

    Volume 31, Issue 12, December 2016, Pages: 1820–1828, Dolores Vilas, Bàrbara Segura, Hugo C. Baggio, Claustre Pont-Sunyer, Yaroslau Compta, Francesc Valldeoriola, María José Martí, María Quintana, Angels Bayés, Jorge Hernández-Vara, Matilde Calopa, Miquel Aguilar, Carme Junqué, Eduardo Tolosa and and the Barcelona LRRK2 Study Group

    Version of Record online : 21 SEP 2016, DOI: 10.1002/mds.26799

  10. Clinicogenetic study of mutations in LRRK2 exon 41 in Parkinson's disease patients from 18 countries

    Movement Disorders

    Volume 21, Issue 8, August 2006, Pages: 1102–1108, Hiroyuki Tomiyama, Yuanzhe Li, Manabu Funayama, Kazuko Hasegawa, Hiroyo Yoshino, Shin-Ichiro Kubo, Kenichi Sato, Tatsuya Hattori, Chin-Song Lu, Rivka Inzelberg, Ruth Djaldetti, Eldad Melamed, Rim Amouri, Neziha Gouider-Khouja, Faycal Hentati, Yasuko Hatano, Mei Wang, Yoko Imamichi, Koichi Mizoguchi, Hiroaki Miyajima, Fumiya Obata, Tatsushi Toda, Matthew J. Farrer, Yoshikuni Mizuno and Nobutaka Hattori

    Version of Record online : 18 APR 2006, DOI: 10.1002/mds.20886

  11. A voxel-based morphometry and diffusion tensor imaging analysis of asymptomatic Parkinson's disease-related G2019S LRRK2 mutation carriers

    Movement Disorders

    Volume 29, Issue 6, May 2014, Pages: 823–827, Avner Thaler, Moran Artzi, Anat Mirelman, Yael Jacob, Rick C. Helmich, Bart F.L. van Nuenen, Tanya Gurevich, Avi Orr-Urtreger, Karen Marder, Susan Bressman, Bastiaan R. Bloem, Talma Hendler, Nir Giladi, Dafna Ben Bashat and the LRRK2 Ashkenazi Jewish Consortium

    Version of Record online : 30 JAN 2014, DOI: 10.1002/mds.25827

  12. Parkinson disease phenotype in Ashkenazi jews with and without LRRK2 G2019S mutations

    Movement Disorders

    Volume 28, Issue 14, December 2013, Pages: 1966–1971, Roy N. Alcalay, Anat Mirelman, Rachel Saunders-Pullman, Ming-X Tang, Helen Mejia Santana, Deborah Raymond, Ernest Roos, Martha Orbe-Reilly, Tanya Gurevich, Anat Bar Shira, Mali Gana Weisz, Kira Yasinovsky, Maayan Zalis, Avner Thaler, Andres Deik, Matthew James Barrett, Jose Cabassa, Mark Groves, Ann L. Hunt, Naomi Lubarr, Marta San Luciano, Joan Miravite, Christina Palmese, Rivka Sachdev, Harini Sarva, Lawrence Severt, Vicki Shanker, Matthew Carrington Swan, Jeannie Soto-Valencia, Brooke Johannes, Robert Ortega, Stanley Fahn, Lucien Cote, Cheryl Waters, Pietro Mazzoni, Blair Ford, Elan Louis, Oren Levy, Llency Rosado, Diana Ruiz, Tsvyatko Dorovski, Michael Pauciulo, William Nichols, Avi Orr-Urtreger, Laurie Ozelius, Lorraine Clark, Nir Giladi, Susan Bressman and Karen S. Marder

    Version of Record online : 15 OCT 2013, DOI: 10.1002/mds.25647

  13. Olfactory heterogeneity in LRRK2 related Parkinsonism

    Movement Disorders

    Volume 25, Issue 16, 15 December 2010, Pages: 2879–2883, Laura Silveira-Moriyama, Renato Pupi Munhoz, Margarete de J. Carvalho, Salmo Raskin, Ekaterina Rogaeva, Patricia de C. Aguiar, Rodrigo A. Bressan, Andre C. Felicio, Orlando G.P. Barsottini, Luiz Augusto F. Andrade, Hsin F. Chien, Vincenzo Bonifati, Egberto R. Barbosa, Helio A. Teive and Andrew J. Lees

    Version of Record online : 3 SEP 2010, DOI: 10.1002/mds.23325

  14. Meta-analysis of Parkinson's Disease: Identification of a novel locus, RIT2

    Annals of Neurology

    Volume 71, Issue 3, March 2012, Pages: 370–384, Nathan Pankratz, Gary W. Beecham, Anita L. DeStefano, Ted M. Dawson, Kimberly F. Doheny, Stewart A. Factor, Taye H. Hamza, Albert Y. Hung, Bradley T. Hyman, Adrian J. Ivinson, Dmitri Krainc, Jeanne C. Latourelle, Lorraine N. Clark, Karen Marder, Eden R. Martin, Richard Mayeux, Owen A. Ross, Clemens R. Scherzer, David K. Simon, Caroline Tanner, Jeffery M. Vance, Zbigniew K. Wszolek, Cyrus P. Zabetian, Richard H. Myers, Haydeh Payami, William K. Scott, Tatiana Foroud and and the PD GWAS Consortium

    Version of Record online : 23 MAR 2012, DOI: 10.1002/ana.22687

  15. Sleep aspects on video-polysomnography in LRRK2 mutation carriers

    Movement Disorders

    Volume 30, Issue 13, November 2015, Pages: 1839–1843, Mickael Ehrminger, Smaranda Leu-Semenescu, Florence Cormier, Jean-Christophe Corvol, Marie Vidailhet, Eden Debellemaniere, Alexis Brice and Isabelle Arnulf

    Version of Record online : 15 OCT 2015, DOI: 10.1002/mds.26412

  16. Common variation in the LRRK2 gene is a risk factor for Parkinson's disease

    Movement Disorders

    Volume 27, Issue 14, December 2012, Pages: 1823–1826, Ignacio F. Mata, Harvey Checkoway, Carolyn M. Hutter, Ali Samii, John W. Roberts, Hojoong M. Kim, Pinky Agarwal, Victoria Alvarez, Renee Ribacoba, Pau Pastor, Oswaldo Lorenzo-Betancor, Jon Infante, María Sierra, Pilar Gómez-Garre, Pablo Mir, Beate Ritz, Shannon L. Rhodes, Amy Colcher, Vivianna Van Deerlin, Kathryn A. Chung, Joseph F. Quinn, Dora Yearout, Erica Martinez, Federico M. Farin, Jia Y. Wan, Karen L. Edwards and Cyrus P. Zabetian

    Version of Record online : 31 OCT 2012, DOI: 10.1002/mds.25226

  17. Olfactory deficits and cardiac 123I-MIBG in Parkinson's disease related to the LRRK2 R1441G and G2019S mutations

    Movement Disorders

    Volume 26, Issue 11, September 2011, Pages: 2026–2031, Javier Ruiz-Martínez, Ana Gorostidi, Estibaliz Goyenechea, Ainhoa Alzualde, Juan José Poza, Francisco Rodríguez, Alberto Bergareche, Fermín Moreno, Adolfo López de Munain and José F. Martí Massó

    Version of Record online : 24 MAY 2011, DOI: 10.1002/mds.23773

  18. Analysis of Lrrk2 R1628P as a risk factor for Parkinson's disease

    Annals of Neurology

    Volume 64, Issue 1, July 2008, Pages: 88–92, Owen A. Ross, Yih-Ru Wu, Mei-Ching Lee, Manabu Funayama, Meng-Ling Chen, Alexandra I. Soto, Ignacio F. Mata, Guey-Jen Lee-Chen, Chiung Mei Chen, Michelle Tang, Yi Zhao, Nobutaka Hattori, Matthew J. Farrer, Eng-King Tan and Ruey-Meei Wu

    Version of Record online : 15 APR 2008, DOI: 10.1002/ana.21405

  19. LRRK2 mutations and risk variants in Japanese patients with Parkinson's disease

    Movement Disorders

    Volume 24, Issue 7, 15 May 2009, Pages: 1034–1041, Cyrus P. Zabetian, Mitsutoshi Yamamoto, Alexis N. Lopez, Hiroshi Ujike, Ignacio F. Mata, Yuishin Izumi, Ryuji Kaji, Hirofumi Maruyama, Hiroyuki Morino, Masaya Oda, Carolyn M. Hutter, Karen L. Edwards, Gerard D. Schellenberg, Debby W. Tsuang, Dora Yearout, Eric B. Larson and Hideshi Kawakami

    Version of Record online : 2 APR 2009, DOI: 10.1002/mds.22514

  20. High nigral iron deposition in LRRK2 and Parkin mutation carriers using R2* relaxometry

    Movement Disorders

    Volume 30, Issue 8, July 2015, Pages: 1077–1084, Nadya Pyatigorskaya, Michael Sharman, Jean-Christophe Corvol, Romain Valabregue, Lydia Yahia-Cherif, Fabrice Poupon, Florence Cormier-Dequaire, Hartwig Siebner, Stephan Klebe, Marie Vidailhet, Alexis Brice and Stephane Lehéricy

    Version of Record online : 22 MAY 2015, DOI: 10.1002/mds.26218