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There are 16130 results for: content related to: The E326K mutation and Gaucher disease: mutation or polymorphism?

  1. You have full text access to this OnlineOpen article
    A molecular analysis of the GBA gene in Caucasian South Africans with Parkinson's disease

    Molecular Genetics & Genomic Medicine

    Volume 5, Issue 2, March 2017, Pages: 147–156, Melinda Barkhuizen, David G. Anderson, Francois H. van der Westhuizen and Anne F. Grobler

    Version of Record online : 8 FEB 2017, DOI: 10.1002/mgg3.267

  2. You have free access to this content
    Functional analysis of 13 GBA mutant alleles identified in Gaucher disease patients: Pathogenic changes and “modifier” polymorphisms

    Human Mutation

    Volume 23, Issue 6, June 2004, Pages: 567–575, Magda Montfort, Amparo Chabás, Lluïsa Vilageliu and Daniel Grinberg

    Version of Record online : 30 APR 2004, DOI: 10.1002/humu.20043

  3. You have full text access to this OnlineOpen article
    Variants associated with Gaucher disease in multiple system atrophy

    Annals of Clinical and Translational Neurology

    Volume 2, Issue 4, April 2015, Pages: 417–426, Jun Mitsui, Takashi Matsukawa, Hidenao Sasaki, Ichiro Yabe, Masaaki Matsushima, Alexandra Dürr, Alexis Brice, Hiroshi Takashima, Akio Kikuchi, Masashi Aoki, Hiroyuki Ishiura, Tsutomu Yasuda, Hidetoshi Date, Budrul Ahsan, Atsushi Iwata, Jun Goto, Yaeko Ichikawa, Yasuo Nakahara, Yoshio Momose, Yuji Takahashi, Kenju Hara, Akiyoshi Kakita, Mitsunori Yamada, Hitoshi Takahashi, Osamu Onodera, Masatoyo Nishizawa, Hirohisa Watanabe, Mizuki Ito, Gen Sobue, Kinya Ishikawa, Hidehiro Mizusawa, Kazuaki Kanai, Takamichi Hattori, Satoshi Kuwabara, Kimihito Arai, Shigeru Koyano, Yoshiyuki Kuroiwa, Kazuko Hasegawa, Tatsuhiko Yuasa, Kenichi Yasui, Kenji Nakashima, Hijiri Ito, Yuishin Izumi, Ryuji Kaji, Takeo Kato, Susumu Kusunoki, Yasushi Osaki, Masahiro Horiuchi, Tomoyoshi Kondo, Shigeo Murayama, Nobutaka Hattori, Mitsutoshi Yamamoto, Miho Murata, Wataru Satake, Tatsushi Toda, Alessandro Filla, Thomas Klockgether, Ullrich Wüllner, Garth Nicholson, Sid Gilman, Caroline M. Tanner, Walter A. Kukull, Mathew B. Stern, Virginia M.-Y. Lee, John Q. Trojanowski, Eliezer Masliah, Phillip A. Low, Paola Sandroni, Laurie J. Ozelius, Tatiana Foroud and Shoji Tsuji

    Version of Record online : 28 FEB 2015, DOI: 10.1002/acn3.185

  4. Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease

    Human Mutation

    Volume 15, Issue 2, February 2000, Pages: 181–188, Deborah L. Stone, Nahid Tayebi, Eduard Orvisky, Barbara Stubblefield, Victor Madike and Ellen Sidransky

    Version of Record online : 25 JAN 2000, DOI: 10.1002/(SICI)1098-1004(200002)15:2<181::AID-HUMU7>3.0.CO;2-S

  5. 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

    Version of Record online : 26 MAR 2012, DOI: 10.1002/mds.24962

  6. Glucocerebrosidase Enhancers for Selected Gaucher Disease Genotypes by Modification of α-1-C-Substituted Imino-D-xylitols (DIXs) by Click Chemistry

    ChemMedChem

    Volume 9, Issue 8, August 2014, Pages: 1744–1754, Jenny Serra-Vinardell, Dr. Lucía Díaz, Dr. Josefina Casas, Prof. Dr. Daniel Grinberg, Prof. Dr. Lluïsa Vilageliu, Prof. Dr. Helen Michelakakis, Dr. Irene Mavridou, Johannes M. F. G. Aerts, Dr. Camille Decroocq, Prof. Dr. Philippe Compain and Prof. Dr. Antonio Delgado

    Version of Record online : 27 JUN 2014, DOI: 10.1002/cmdc.201402023

  7. You have free access to this content
    Poster Session

    Movement Disorders

    Volume 31, Issue S2, June 2016, Pages: S1–S697,

    Version of Record online : 19 JUN 2016, DOI: 10.1002/mds.26688

  8. You have free access to this content
    Poster Presentations

    Movement Disorders

    Volume 30, Issue S1, June 2015, Pages: S1–S567,

    Version of Record online : 12 JUN 2015, DOI: 10.1002/mds.26295

  9. Molecular analysis and clinical findings in the Spanish Gaucher disease population: Putative haplotype of the N370S ancestral chromosome

    Human Mutation

    Volume 11, Issue 4, 1998, Pages: 295–305, Bru Cormand, Daniel Grinberg, Laura Gort, Amparo Chabás and Lluïsa Vilageliu

    Version of Record online : 22 NOV 1999, DOI: 10.1002/(SICI)1098-1004(1998)11:4<295::AID-HUMU7>3.0.CO;2-6

  10. Progressive Supranuclear Palsy–Like Phenotype in a GBA E326K Mutation Carrier

    Movement Disorders Clinical Practice

    Volume 4, Issue 3, May/June 2017, Pages: 444–446, Marina Picillo, Simona Petrucci, Enza Maria Valente, Sabina Pappatà, Fiorenzo Squame, Monia Ginevrino, Leonardo Pace, Paolo Barone and Maria Teresa Pellecchia

    Version of Record online : 27 JUL 2016, DOI: 10.1002/mdc3.12406

  11. Prenatal lethality of a homozygous null mutation in the human glucocerebrosidase gene

    American Journal of Medical Genetics

    Volume 73, Issue 1, 28 November 1997, Pages: 41–47, Nahid Tayebi, Shana R. Cushner, Wim Kleijer, Elaine K. Lau, Patricia J. Damschroder-Williams, Barbara K. Stubblefield, Jan Den Hollander and Ellen Sidransky

    Version of Record online : 6 DEC 1998, DOI: 10.1002/(SICI)1096-8628(19971128)73:1<41::AID-AJMG9>3.0.CO;2-S

  12. Activity of glucocerebrosidase in extracts of different cell types from type 1 Gaucher disease patients

    Clinical Genetics

    Volume 38, Issue 3, September 1990, Pages: 218–227, M. Clara Sa Miranda, Johannes M. F. G. Aerts, Rui Pinto, Augusta Fontes, Lucia Wanzeller de Lacerda, Sonja van Weely, John Barranger and Joseph M. Tager

    Version of Record online : 28 JUN 2008, DOI: 10.1111/j.1399-0004.1990.tb03573.x

  13. You have full text access to this OnlineOpen article
    The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease

    Movement Disorders

    Volume 28, Issue 2, February 2013, Pages: 232–236, Raquel Duran, Niccolo E. Mencacci, Aikaterini V. Angeli, Maryam Shoai, Emma Deas, Henry Houlden, Atul Mehta, Derralynn Hughes, Timothy M. Cox, Patrick Deegan, Anthony H. Schapira, Andrew J. Lees, Patricia Limousin, Paul R. Jarman, Kailash P. Bhatia, Nicholas W. Wood, John Hardy and Tom Foltynie

    Version of Record online : 5 DEC 2012, DOI: 10.1002/mds.25248

  14. You have free access to this content
    Poster Presentations

    Movement Disorders

    Volume 29, Issue S1, May 2014, Pages: S1–S571,

    Version of Record online : 6 JUN 2014, DOI: 10.1002/mds.25914

  15. Gaucher disease paradigm: From ERAD to comorbidity

    Human Mutation

    Volume 33, Issue 10, October 2012, Pages: 1398–1407, Inna Bendikov-Bar and Mia Horowitz

    Version of Record online : 11 JUN 2012, DOI: 10.1002/humu.22124

  16. GBA Mutations Are Associated With Earlier Onset and Male Sex in Dementia With Lewy Bodies

    Movement Disorders

    Volume 31, Issue 7, July 2016, Pages: 1066–1070, Ana Gámez-Valero, Patricia Prada-Dacasa, Cristina Santos, Cristina Adame-Castillo, Jaume Campdelacreu, Ramón Reñé, Jordi Gascón-Bayarri, Lourdes Ispierto, Ramiro Álvarez, Aurelio Ariza and Katrin Beyer

    Version of Record online : 29 MAR 2016, DOI: 10.1002/mds.26593

  17. You have full text access to this OnlineOpen article
    The relationship between glucocerebrosidase mutations and Parkinson disease

    Journal of Neurochemistry

    Volume 139, Issue S1, October 2016, Pages: 77–90, Anna Migdalska-Richards and Anthony H. V. Schapira

    Version of Record online : 10 FEB 2016, DOI: 10.1111/jnc.13385

  18. Gaucher disease: Functional expression of the normal glucocerebrosidase and Gaucher T1366G and G1604A alleles in Baculovirus-transfected Spodoptera frugiperda cells

    American Journal of Medical Genetics

    Volume 65, Issue 3, 28 October 1996, Pages: 184–189, Francis Y.M. Choy, Chao Wei and David Levin

    Version of Record online : 6 DEC 1998, DOI: 10.1002/(SICI)1096-8628(19961028)65:3<184::AID-AJMG3>3.0.CO;2-Q

  19. You have full text access to this OnlineOpen article
    GBA mutations are associated with Rapid Eye Movement Sleep Behavior Disorder

    Annals of Clinical and Translational Neurology

    Volume 2, Issue 9, September 2015, Pages: 941–945, Ziv Gan-Or, Anat Mirelman, Ronald B. Postuma, Isabelle Arnulf, Anat Bar-Shira, Yves Dauvilliers, Alex Desautels, Jean-François Gagnon, Claire S. Leblond, Birgit Frauscher, Roy N. Alcalay, Rachel Saunders-Pullman, Susan B. Bressman, Karen Marder, Christelle Monaca, Birgit Högl, Avi Orr-Urtreger, Patrick A. Dion, Jacques Y. Montplaisir, Nir Giladi and Guy A. Rouleau

    Version of Record online : 31 JUL 2015, DOI: 10.1002/acn3.228

  20. You have full text access to this OnlineOpen article
    Specifically neuropathic Gaucher's mutations accelerate cognitive decline in Parkinson's

    Annals of Neurology

    Volume 80, Issue 5, November 2016, Pages: 674–685, Ganqiang Liu, Brendon Boot, Joseph J. Locascio, Iris E. Jansen, Sophie Winder-Rhodes, Shirley Eberly, Alexis Elbaz, Alexis Brice, Bernard Ravina, Jacobus J. van Hilten, Florence Cormier-Dequaire, Jean-Christophe Corvol, Roger A. Barker, Peter Heutink, Johan Marinus, Caroline H. Williams-Gray, Clemens R. Scherzer and for the International Genetics of Parkinson Disease Progression (IGPP) Consortium

    Version of Record online : 18 NOV 2016, DOI: 10.1002/ana.24781