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There are 7549 results for: content related to: Distribution, type, and origin of Parkin mutations: Review and case studies

  1. parkin mutation analysis in clinic patients with early-onset Parkinson's disease

    American Journal of Medical Genetics Part A

    Volume 129A, Issue 1, 15 August 2004, Pages: 44–50, P. Poorkaj, J. G. Nutt, D. James, S. Gancher, T. D. Bird, E. Steinbart, G. D. Schellenberg and Haydeh Payami

    Article first published online : 7 JUN 2004, DOI: 10.1002/ajmg.a.30157

  2. Lewy body Parkinson's disease in a large pedigree with 77 Parkin mutation carriers

    Annals of Neurology

    Volume 58, Issue 3, September 2005, Pages: 411–422, Peter P. Pramstaller, Michael G. Schlossmacher, Thomas S. Jacques, Francesco Scaravilli, Cordula Eskelson, Imelda Pepivani, Katja Hedrich, Susanna Adel, Melissa Gonzales-McNeal, Rüdiger Hilker, Patricia L. Kramer and Christine Klein

    Article first published online : 29 AUG 2005, DOI: 10.1002/ana.20587

  3. How much phenotypic variation can be attributed to parkin genotype?

    Annals of Neurology

    Volume 54, Issue 2, August 2003, Pages: 176–185, Ebba Lohmann, Magali Periquet, Vincenzo Bonifati, Nick W. Wood, Giuseppe De Michele, Anne-Marie Bonnet, Valérie Fraix, Emmanuel Broussolle, Martin W. I. M. Horstink, Marie Vidailhet, Patrice Verpillat, Thomas Gasser, David Nicholl, Hélio Teive, Salmo Raskin, Olivier Rascol, Alain Destée, Merle Ruberg, Francesca Gasparini, Giuseppe Meco, Yves Agid, Alexandra Durr and Alexis Brice

    Article first published online : 30 MAY 2003, DOI: 10.1002/ana.10613

  4. Lewy bodies and parkinsonism in families with parkin mutations

    Annals of Neurology

    Volume 50, Issue 3, September 2001, Pages: 293–300, Matt Farrer, Piu Chan, Rong Chen, Louis Tan, Sarah Lincoln, Dena Hernandez, Lysia Forno, Katrina Gwinn-Hardy, Leonard Petrucelli, Jennifer Hussey, Andrew Singleton, Caroline Tanner, John Hardy and J. William Langston

    Article first published online : 3 AUG 2001, DOI: 10.1002/ana.1132

  5. Novel parkin mutations detected in patients with early-onset Parkinson's disease

    Movement Disorders

    Volume 20, Issue 4, April 2005, Pages: 424–431, Aida M. Bertoli-Avella, José L. Giroud-Benitez, Ali Akyol, Egberto Barbosa, Onno Schaap, Herma C. van der Linde, Emilia Martignoni, Leonardo Lopiano, Paolo Lamberti, Emiliana Fincati, Angelo Antonini, Fabrizio Stocchi, Pasquale Montagna, Ferdinando Squitieri, Paolo Marini, Giovanni Abbruzzese, Giovanni Fabbrini, Roberto Marconi, Alessio Dalla Libera, Giorgio Trianni, Marco Guidi, Antonio De Gaetano, Gustavo Boff Maegawa, Antonino De Leo, Virgilio Gallai, Giulia de Rosa, Nicola Vanacore, Giuseppe Meco, Cornelia M. van Duijn, Ben A. Oostra, Peter Heutink and Vincenzo Bonifati

    Article first published online : 6 DEC 2004, DOI: 10.1002/mds.20343

  6. Are parkin patients particularly suited for deep-brain stimulation?

    Movement Disorders

    Volume 23, Issue 5, 15 April 2008, Pages: 740–743, Ebba Lohmann, Marie-Laure Welter, Valérie Fraix, Paul Krack, Suzanne Lesage, Sophie Laine, Marie-Laure Tanguy, Jean-Luc Houeto, Valérie Mesnage, Pierre Pollak, Alexandra Durr, Yves Agid, Alexis Brice and French Parkinson's Disease Genetics study group

    Article first published online : 28 JAN 2008, DOI: 10.1002/mds.21903

  7. Restless legs syndrome, rapid eye movement sleep behavior disorder, and hypersomnia in patients with two parkin mutations

    Movement Disorders

    Volume 24, Issue 13, 15 October 2009, Pages: 1970–1976, Nadège Limousin, Eric Konofal, Elias Karroum, Ebba Lohmann, Ioannis Theodorou, Alexandra Dürr and Isabelle Arnulf

    Article first published online : 11 AUG 2009, DOI: 10.1002/mds.22711

  8. Construction and validation of a Parkinson's disease mutation genotyping array for the Parkin gene

    Movement Disorders

    Volume 22, Issue 7, 15 May 2007, Pages: 932–937, Lorraine N. Clark, Eneli Haamer, Helen Mejia-Santana, Juliette Harris, Suzanne Lesage, Alexandra Durr, Sabine Janin Bs, Katja Hedrich, Elan D. Louis, Lucien J. Cote, Howard Andrews, Stanley Fahn, Cheryl Waters, Blair Ford, Steven Frucht, William Scott, Christine Klein, Alexis Brice, Hanno Roomere, Ruth Ottman and Karen Marder

    Article first published online : 5 APR 2007, DOI: 10.1002/mds.21419

  9. Positron emission tomographic analysis of the nigrostriatal dopaminergic system in familial Parkinsonism associated with mutations in the Parkin gene

    Annals of Neurology

    Volume 49, Issue 3, 1 March 2001, Pages: 367–376, Ruediger Hilker, Christine Klein, Mehran Ghaemi, Bernhard Kis, Tim Strotmann, Laurie J. Ozelius, Olaf Lenz, Peter Vieregge, Karl Herholz, Wolf-Dieter Heiss and Peter P. Pramstaller

    Article first published online : 1 MAR 2001, DOI: 10.1002/ana.74

  10. Parkin gene modifies the effect of RLS4 on the age at onset of restless legs syndrome (RLS)

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 153B, Issue 1, January 2010, Pages: 350–355, Irene Pichler, Fabio Marroni, Cristian Pattaro, Katja Lohmann, Alessandro de Grandi, Christine Klein, Andrew A. Hicks and Peter P. Pramstaller

    Article first published online : 12 JUN 2009, DOI: 10.1002/ajmg.b.30988

  11. You have free access to this content
    Heterozygous parkin point mutations are as common in control subjects as in Parkinson's patients

    Annals of Neurology

    Volume 61, Issue 1, January 2007, Pages: 47–54, Denise M. Kay, Dawn Moran, Lina Moses, Parvoneh Poorkaj, Cyrus P. Zabetian, John Nutt, Stewart A. Factor, Chang-En Yu, Jennifer S. Montimurro, Robert G. Keefe, Gerard D. Schellenberg and Haydeh Payami

    Article first published online : 22 DEC 2006, DOI: 10.1002/ana.21039

  12. Parkin and Parkinson's: More than homonymy?

    Annals of Neurology

    Volume 50, Issue 3, September 2001, Pages: 283–285, Olga Corti and Alexis Brice

    Article first published online : 30 AUG 2001, DOI: 10.1002/ana.1143

  13. Mitochondrial function and morphology are impaired in parkin-mutant fibroblasts

    Annals of Neurology

    Volume 64, Issue 5, November 2008, Pages: 555–565, Heather Mortiboys, Kelly Jean Thomas, Werner J. H. Koopman, Stefanie Klaffke, Patrick Abou-Sleiman, Simon Olpin, Nicholas W. Wood, Peter H. G. M. Willems, Jan A. M. Smeitink, Mark R. Cookson and Oliver Bandmann

    Article first published online : 9 DEC 2008, DOI: 10.1002/ana.21492

  14. You have free access to this content
    Impaired dopamine release and synaptic plasticity in the striatum of Parkin−/− mice

    Journal of Neurochemistry

    Volume 110, Issue 2, July 2009, Pages: 613–621, Tohru Kitada, Antonio Pisani, Maha Karouani, Marian Haburcak, Giuseppina Martella, Anne Tscherter, Paola Platania, Bei Wu, Emmanuel N. Pothos and Jie Shen

    Article first published online : 5 MAY 2009, DOI: 10.1111/j.1471-4159.2009.06152.x

  15. The neuropathology of genetic Parkinson's disease

    Movement Disorders

    Volume 27, Issue 7, June 2012, Pages: 831–842, Markos Poulopoulos, Oren A. Levy and Roy N. Alcalay

    Article first published online : 26 MAR 2012, DOI: 10.1002/mds.24962

  16. Phenotypic variability of parkin mutations in single kindred

    Movement Disorders

    Volume 27, Issue 10, 1 September 2012, Pages: 1299–1303, Brianada Koentjoro, Jin-Sung Park, Ainhi Duy Ha and Carolyn M. Sue

    Article first published online : 17 JUL 2012, DOI: 10.1002/mds.25041

  17. Lack of association between cancer history and PARKIN genotype: A family based study in PARKIN/Parkinson's Families

    Genes, Chromosomes and Cancer

    Volume 51, Issue 12, December 2012, Pages: 1109–1113, Roy N. Alcalay, Lorraine N. Clark, Karen S. Marder and W. Edward C. Bradley

    Article first published online : 24 AUG 2012, DOI: 10.1002/gcc.21995

  18. Parkinson's Disease: Genetics and Pathogenesis

    Standard Article

    Handbook of Contemporary Neuropharmacology

    Claudia M. Testa

    Published Online : 2 MAR 2007, DOI: 10.1002/9780470101001.hcn063

  19. Nigrostriatal dysfunction in homozygous and heterozygous parkin gene carriers: An 18F-dopa PET progression study

    Movement Disorders

    Volume 24, Issue 15, 15 November 2009, Pages: 2260–2266, Nicola Pavese, Naheed L. Khan, Christoph Scherfler, Lisa Cohen, David J. Brooks, Nicholas W. Wood, Kailash P. Bhatia, Niall P. Quinn, Andrew J. Lees and Paola Piccini

    Article first published online : 20 OCT 2009, DOI: 10.1002/mds.22817

  20. Nonmotor symptoms in Parkin gene-related parkinsonism

    Movement Disorders

    Volume 25, Issue 9, 15 July 2010, Pages: 1279–1284, Georg Kägi, Christine Klein, Nicholas W. Wood, Susanne A. Schneider, Peter P. Pramstaller, Vera Tadic, Niall P. Quinn, Bart P.C. van de Warrenburg and Kailash P. Bhatia

    Article first published online : 17 MAY 2010, DOI: 10.1002/mds.22897