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There are 1652 results for: content related to: Parkinson's disease due to the R1441G mutation in Dardarin: A founder effect in the basques

  1. You have free access to this content
    A defect in skeletal muscle sodium channel deactivation exacerbates hyperexcitability in human paramyotonia congenita

    The Journal of Physiology

    Volume 506, Issue 3, February 1998, Pages: 627–638, David E. Featherstone, Esther Fujimoto and Peter C. Ruben

    Version of Record online : 22 SEP 2004, DOI: 10.1111/j.1469-7793.1998.627bv.x

  2. You have free access to this content
    LRRK2 in Parkinson’s disease: genetic and clinical studies from patients

    The FEBS Journal

    Volume 276, Issue 22, November 2009, Pages: 6455–6463, Udhaya Kumari and E. K. Tan

    Version of Record online : 5 OCT 2009, DOI: 10.1111/j.1742-4658.2009.07344.x

  3. Neuropathology of Parkinson's disease with the R1441G mutation in LRRK2

    Movement Disorders

    Volume 24, Issue 13, 15 October 2009, Pages: 1998–2001, José-Félix Martí-Massó, Javier Ruiz-Martínez, Maria J. Bolaño, Irune Ruiz, Ana Gorostidi, Fermin Moreno, Isidre Ferrer and Adolfo López de Munain

    Version of Record online : 4 SEP 2009, DOI: 10.1002/mds.22677

  4. You have full text access to this OnlineOpen article
    Cellular processes associated with LRRK2 function and dysfunction

    The FEBS Journal

    Volume 282, Issue 15, August 2015, Pages: 2806–2826, Rebecca Wallings, Claudia Manzoni and Rina Bandopadhyay

    Version of Record online : 9 MAY 2015, DOI: 10.1111/febs.13305

  5. 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

  6. Changes in matrix metalloprotease activity and progranulin levels may contribute to the pathophysiological function of mutant leucine-rich repeat kinase 2

    Glia

    Volume 62, Issue 7, July 2014, Pages: 1075–1092, Mareike Caesar, Sandra Felk, Susanne Zach, Gunnar Brønstad, Jan O. Aasly, Thomas Gasser and Frank Gillardon

    Version of Record online : 20 MAR 2014, DOI: 10.1002/glia.22663

  7. Penetrance in Parkinson's disease related to the LRRK2 R1441G mutation in the Basque country (Spain)

    Movement Disorders

    Volume 25, Issue 14, 30 October 2010, Pages: 2340–2345, Javier Ruiz-Martínez, Ana Gorostidi, Berta Ibañez, Ainhoa Alzualde, David Otaegui, Fermin Moreno, Adolfo López de Munain, Alberto Bergareche, Juan Carlos Gómez-Esteban and José F. Martí Massó

    Version of Record online : 18 AUG 2010, DOI: 10.1002/mds.23278

  8. Evidence that the LRRK2 ROC domain Parkinson's disease-associated mutants A1442P and R1441C exhibit increased intracellular degradation

    Journal of Neuroscience Research

    Volume 92, Issue 4, April 2014, Pages: 506–516, Izabella D. Greene, Francis Mastaglia, Bruno P. Meloni, Kristin A. West, Joanne Chieng, Chris J. Mitchell, Wei-Ping Gai and Sherif Boulos

    Version of Record online : 24 DEC 2013, DOI: 10.1002/jnr.23331

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    Leucine-rich repeat kinase 2 (LRRK2)/PARK8 possesses GTPase activity that is altered in familial Parkinson’s disease R1441C/G mutants

    Journal of Neurochemistry

    Volume 103, Issue 1, October 2007, Pages: 238–247, Xianting Li, Yin-Cai Tan, Shibu Poulose, C. Warren Olanow, Xin-Yun Huang and Zhenyu Yue

    Version of Record online : 3 JUN 2007, DOI: 10.1111/j.1471-4159.2007.04743.x

  10. 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

  11. Screening for LRRK2 mutations in patients with Parkinson’s disease in Russia: identification of a novel LRRK2 variant

    European Journal of Neurology

    Volume 15, Issue 7, July 2008, Pages: 692–696, S. N. Pchelina, A. F. Yakimovskii, A. K. Emelyanov, O. N. Ivanova, A. L. Schwarzman and A. B. Singleton

    Version of Record online : 24 APR 2008, DOI: 10.1111/j.1468-1331.2008.02149.x

  12. The LRRK2 R1441C mutation is more frequent than G2019S in Parkinson's disease patients from Southern Italy

    Movement Disorders

    Volume 26, Issue 9, 1 August 2011, Pages: 1732–1736, Chiara Criscuolo, Anna De Rosa, Anna Guacci, Erik J. Simons, Guido J. Breedveld, Silvio Peluso, Giampiero Volpe, Alessandro Filla, Ben A. Oostra, Vincenzo Bonifati and Giuseppe De Michele

    Version of Record online : 29 APR 2011, DOI: 10.1002/mds.23735

  13. Analysis of 14 LRRK2 mutations in Parkinson's plus syndromes and late-onset Parkinson's disease

    Movement Disorders

    Volume 21, Issue 7, July 2006, Pages: 997–1001, E.K. Tan, Lisa Skipper, Eva Chua, Meng-Cheong Wong, Ratnagopal Pavanni, Carine Bonnard, Prasanna Kolatkar and Jian-Jun Liu

    Version of Record online : 6 APR 2006, DOI: 10.1002/mds.20875

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    The G2019S pathogenic mutation disrupts sensitivity of leucine-rich repeat kinase 2 to manganese kinase inhibition

    Journal of Neurochemistry

    Volume 115, Issue 1, October 2010, Pages: 36–46, Jason P. Covy and Benoit I. Giasson

    Version of Record online : 8 JUL 2010, DOI: 10.1111/j.1471-4159.2010.06894.x

  15. DAT imaging and clinical biomarkers in relatives at genetic risk for LRRK2 R1441G Parkinson's disease

    Movement Disorders

    Volume 31, Issue 3, March 2016, Pages: 335–343, Alberto Bergareche, Maria Cruz Rodríguez-Oroz, Ainara Estanga, Ana Gorostidi, Adolfo López de Munain, Tamara Castillo-Triviño, Javier Ruiz-Martínez, Elisabet Mondragón, Carles Gaig, Francisco Lomeña, Cristina Sarasqueta, Eduardo Tolosa and José Félix Martí-Massó

    Version of Record online : 21 DEC 2015, DOI: 10.1002/mds.26478

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    LRRK2 in Parkinson’s disease: biochemical functions

    The FEBS Journal

    Volume 276, Issue 22, November 2009, Pages: 6428–6435, Vasanti S. Anand and Steven P. Braithwaite

    Version of Record online : 5 OCT 2009, DOI: 10.1111/j.1742-4658.2009.07341.x

  17. High prevalence of LRRK2 mutations in familial and sporadic Parkinson's disease in Portugal

    Movement Disorders

    Volume 22, Issue 8, 15 June 2007, Pages: 1194–1201, Joaquim J. Ferreira, Leonor Correia Guedes, Mário Miguel Rosa, Miguel Coelho, Marina van Doeselaar, Dorothea Schweiger, Alessio Di Fonzo, Ben A. Oostra, Cristina Sampaio and Vincenzo Bonifati

    Version of Record online : 27 APR 2007, DOI: 10.1002/mds.21525

  18. Prevalence and clinical features of common LRRK2 mutations in Australians with Parkinson's Disease

    Movement Disorders

    Volume 22, Issue 7, 15 May 2007, Pages: 982–989, Yue Huang, Glenda M. Halliday, Himesha Vandebona, George D. Mellick, Frank Mastaglia, Julia Stevens, John Kwok, Michael Garlepp, Peter A. Silburn, Malcolm K. Horne, Katya Kotschet, Alison Venn, Dominic B. Rowe, Justin P. Rubio and Carolyn M. Sue

    Version of Record online : 11 APR 2007, DOI: 10.1002/mds.21477

  19. The discovery of LRRK2 p.R1441S, a novel mutation for Parkinson's disease, adds to the complexity of a mutational hotspot

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Ignacio F. Mata, Marie Y. Davis, Alexis N. Lopez, Michael O. Dorschner, Erica Martinez, Dora Yearout, Brenna A. Cholerton, Shu-Ching Hu, Karen L. Edwards, Thomas D. Bird and Cyrus P. Zabetian

    Version of Record online : 25 APR 2016, DOI: 10.1002/ajmg.b.32452

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    Leucine-rich repeat kinase 2 (LRRK2): A key player in the pathogenesis of Parkinson's disease

    Journal of Neuroscience Research

    Volume 87, Issue 6, 1 May 2009, Pages: 1283–1295, Payal N. Gandhi, Shu G. Chen and Amy L. Wilson-Delfosse

    Version of Record online : 21 NOV 2008, DOI: 10.1002/jnr.21949