The genetics of Parkinson's disease: Progress and therapeutic implications
Singleton, Andrew B., Farrer, Matthew J., Bonifati, Vincenzo
Published in Movement disorders (01.01.2013)
Published in Movement disorders (01.01.2013)
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Alpha-synuclein p.H50Q, a novel pathogenic mutation for Parkinson's disease
Appel-Cresswell, Silke, Vilarino-Guell, Carles, Encarnacion, Mary, Sherman, Holly, Yu, Irene, Shah, Brinda, Weir, David, Thompson, Christina, Szu-Tu, Chelsea, Trinh, Joanne, Aasly, Jan O., Rajput, Alex, Rajput, Ali H., Jon Stoessl, A., Farrer, Matthew J.
Published in Movement disorders (01.06.2013)
Published in Movement disorders (01.06.2013)
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Dynamic control of the dopamine transporter in neurotransmission and homeostasis
Bu, Mengfei, Farrer, Matthew J., Khoshbouei, Habibeh
Published in NPJ Parkinson's Disease (05.03.2021)
Published in NPJ Parkinson's Disease (05.03.2021)
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A Meta-Analysis of α-Synuclein Multiplication in Familial Parkinsonism
Book, Adam, Guella, Ilaria, Candido, Tara, Brice, Alexis, Hattori, Nobutaka, Jeon, Beomseok, Farrer, Matthew J
Published in Frontiers in neurology (11.12.2018)
Published in Frontiers in neurology (11.12.2018)
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Variants in saposin D domain of prosaposin gene linked to Parkinson's disease
Oji, Yutaka, Hatano, Taku, Ueno, Shin-Ichi, Funayama, Manabu, Ishikawa, Kei-Ichi, Okuzumi, Ayami, Noda, Sachiko, Sato, Shigeto, Satake, Wataru, Toda, Tatsushi, Li, Yuanzhe, Hino-Takai, Tomoko, Kakuta, Soichiro, Tsunemi, Taiji, Yoshino, Hiroyo, Nishioka, Kenya, Hattori, Tatsuya, Mizutani, Yasuaki, Mutoh, Tatsuro, Yokochi, Fusako, Ichinose, Yuta, Koh, Kishin, Shindo, Kazumasa, Takiyama, Yoshihisa, Hamaguchi, Tsuyoshi, Yamada, Masahito, Farrer, Matthew J, Uchiyama, Yasuo, Akamatsu, Wado, Wu, Yih-Ru, Matsuda, Junko, Hattori, Nobutaka
Published in Brain (London, England : 1878) (01.04.2020)
Published in Brain (London, England : 1878) (01.04.2020)
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Journal Article
LRRK2 in Parkinson's disease: protein domains and functional insights
Mata, Ignacio F., Wedemeyer, William J., Farrer, Matthew J., Taylor, Julie P., Gallo, Kathleen A.
Published in Trends in neurosciences (Regular ed.) (01.05.2006)
Published in Trends in neurosciences (Regular ed.) (01.05.2006)
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Journal Article
VPS35 Mutations in Parkinson Disease
Vilariño-Güell, Carles, Wider, Christian, Ross, Owen A., Dachsel, Justus C., Kachergus, Jennifer M., Lincoln, Sarah J., Soto-Ortolaza, Alexandra I., Cobb, Stephanie A., Wilhoite, Greggory J., Bacon, Justin A., Behrouz, Bahareh, Melrose, Heather L., Hentati, Emna, Puschmann, Andreas, Evans, Daniel M., Conibear, Elizabeth, Wasserman, Wyeth W., Aasly, Jan O., Burkhard, Pierre R., Djaldetti, Ruth, Ghika, Joseph, Hentati, Faycal, Krygowska-Wajs, Anna, Lynch, Tim, Melamed, Eldad, Rajput, Alex, Rajput, Ali H., Solida, Alessandra, Wu, Ruey-Meei, Uitti, Ryan J., Wszolek, Zbigniew K., Vingerhoets, François, Farrer, Matthew J.
Published in American journal of human genetics (15.07.2011)
Published in American journal of human genetics (15.07.2011)
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Journal Article
Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy
Müller, Ulrich, Schellenberg, Gerard D, Höglinger, Günter U, Melhem, Nadine M, Dickson, Dennis W, Sleiman, Patrick M A, Wang, Li-San, Klei, Lambertus, Rademakers, Rosa, de Silva, Rohan, Litvan, Irene, Riley, David E, van Swieten, John C, Heutink, Peter, Wszolek, Zbigniew K, Uitti, Ryan J, Vandrovcova, Jana, Hurtig, Howard I, Gross, Rachel G, Maetzler, Walter, Goldwurm, Stefano, Tolosa, Eduardo, Borroni, Barbara, Pastor, Pau, Cantwell, Laura B, Han, Mi Ryung, Dillman, Allissa, van der Brug, Marcel P, Gibbs, J Raphael, Cookson, Mark R, Hernandez, Dena G, Singleton, Andrew B, Farrer, Matthew J, Yu, Chang-En, Golbe, Lawrence I, Revesz, Tamas, Hardy, John, Lees, Andrew J, Devlin, Bernie, Hakonarson, Hakon
Published in Nature genetics (01.07.2011)
Published in Nature genetics (01.07.2011)
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Journal Article
DNAJC13 mutations in Parkinson disease
Vilariño-Güell, Carles, Rajput, Alex, Milnerwood, Austen J, Shah, Brinda, Szu-Tu, Chelsea, Trinh, Joanne, Yu, Irene, Encarnacion, Mary, Munsie, Lise N, Tapia, Lucia, Gustavsson, Emil K, Chou, Patrick, Tatarnikov, Igor, Evans, Daniel M, Pishotta, Frederick T, Volta, Mattia, Beccano-Kelly, Dayne, Thompson, Christina, Lin, Michelle K, Sherman, Holly E, Han, Heather J, Guenther, Bruce L, Wasserman, Wyeth W, Bernard, Virginie, Ross, Colin J, Appel-Cresswell, Silke, Stoessl, A Jon, Robinson, Christopher A, Dickson, Dennis W, Ross, Owen A, Wszolek, Zbigniew K, Aasly, Jan O, Wu, Ruey-Meei, Hentati, Faycal, Gibson, Rachel A, McPherson, Peter S, Girard, Martine, Rajput, Michele, Rajput, Ali H, Farrer, Matthew J
Published in Human molecular genetics (01.04.2014)
Published in Human molecular genetics (01.04.2014)
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Journal Article
The emerging role of Rab GTPases in the pathogenesis of Parkinson's disease
Gao, Yujing, Wilson, Gabrielle R., Stephenson, Sarah E. M., Bozaoglu, Kiymet, Farrer, Matthew J., Lockhart, Paul J.
Published in Movement disorders (01.02.2018)
Published in Movement disorders (01.02.2018)
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Journal Article
DNM3 and genetic modifiers of age of onset in LRRK2 Gly2019Ser parkinsonism: a genome-wide linkage and association study
Trinh, Joanne, BSc, Gustavsson, Emil K, MSc, Vilariño-Güell, Carles, PhD, Bortnick, Stephanie, BSc, Latourelle, Jeanne, PhD, McKenzie, Marna B, BSc, Tu, Chelsea Szu, MSc, Nosova, Ekaterina, PhD, Khinda, Jaskaran, BSc, Milnerwood, Austen, PhD, Lesage, Suzanne, PhD, Brice, Alexis, MD, Tazir, Meriem, MD, Aasly, Jan O, MD, Parkkinen, Laura, PhD, Haytural, Hazal, MSc, Foroud, Tatiana, PhD, Myers, Richard H, PhD, Sassi, Samia Ben, MD, Hentati, Emna, MD, Nabli, Fatma, MD, Farhat, Emna, MD, Amouri, Rim, PhD, Hentati, Fayçal, MD, Farrer, Matthew J, Dr
Published in Lancet neurology (01.11.2016)
Published in Lancet neurology (01.11.2016)
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Journal Article
Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy
Lehman, Anna, Thouta, Samrat, Mancini, Grazia M.S., Naidu, Sakkubai, van Slegtenhorst, Marjon, McWalter, Kirsty, Person, Richard, Mwenifumbo, Jill, Salvarinova, Ramona, Adam, Shelin, du Souich, Christèle, Elliott, Alison M., Lehman, Anna, Mwenifumbo, Jill, Nelson, Tanya N., van Karnebeek, Clara, Friedman, Jan M., Boelman, Cyrus, Bolbocean, Corneliu, Buerki, Sarah E., Candido, Tara, Eydoux, Patrice, Evans, Daniel M., Gibson, William, Horvath, Gabriella, Huh, Linda, Sinclair, Graham, Tarling, Tamsin, Toyota, Eric B., Townsend, Katelin N., Van Allen, Margot I., Vercauteren, Suzanne, Guella, Ilaria, McKenzie, Marna B., Datta, Anita, Connolly, Mary B., Kalkhoran, Somayeh Mojard, Poburko, Damon, Friedman, Jan M., Farrer, Matthew J., Demos, Michelle, Desai, Sonal, Claydon, Thomas
Published in American journal of human genetics (06.07.2017)
Published in American journal of human genetics (06.07.2017)
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Journal Article
DNAJC12 and dopa‐responsive nonprogressive parkinsonism
Straniero, Letizia, Guella, Ilaria, Cilia, Roberto, Parkkinen, Laura, Rimoldi, Valeria, Young, Alexander, Asselta, Rosanna, Soldà, Giulia, Sossi, Vesna, Stoessl, A. Jon, Priori, Alberto, Nishioka, Kenya, Hattori, Nobutaka, Follett, Jordan, Rajput, Alex, Blau, Nenad, Pezzoli, Gianni, Farrer, Matthew J., Goldwurm, Stefano, Rajput, Ali H., Duga, Stefano
Published in Annals of neurology (01.10.2017)
Published in Annals of neurology (01.10.2017)
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Journal Article
Homozygous alpha-synuclein p.A53V in familial Parkinson’s disease
Yoshino, Hiroyo, PhD, Hirano, Makito, MD, PhD, Stoessl, A. Jon, MD, Imamichi, Yoko, BS, Ikeda, Aya, MD, Li, Yuanzhe, MD, PhD, Funayama, Manabu, PhD, Yamada, Ikuko, MD, PhD, Nakamura, Yusaku, MD, PhD, Sossi, Vesna, PhD, Farrer, Matthew J., PhD, Nishioka, Kenya, MD, PhD, Hattori, Nobutaka, MD, PhD
Published in Neurobiology of aging (01.09.2017)
Published in Neurobiology of aging (01.09.2017)
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Journal Article
Establishing diagnostic criteria for Perry syndrome
Mishima, Takayasu, Fujioka, Shinsuke, Tomiyama, Hiroyuki, Yabe, Ichiro, Kurisaki, Ryoichi, Fujii, Naoki, Neshige, Ryuji, Ross, Owen A, Farrer, Matthew J, Dickson, Dennis W, Wszolek, Zbigniew K, Hattori, Nobutaka, Tsuboi, Yoshio
Published in Journal of neurology, neurosurgery and psychiatry (01.05.2018)
Published in Journal of neurology, neurosurgery and psychiatry (01.05.2018)
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Journal Article
High-Resolution Whole-Genome Association Study of Parkinson Disease
Maraganore, Demetrius M., de Andrade, Mariza, Lesnick, Timothy G., Strain, Kari J., Farrer, Matthew J., Rocca, Walter A., Pant, P.V. Krishna, Frazer, Kelly A., Cox, David R., Ballinger, Dennis G.
Published in American journal of human genetics (01.11.2005)
Published in American journal of human genetics (01.11.2005)
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