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There are 35668 results for: content related to: Gaucher disease: a pyrosequencing frequency analysis of the N370S and L444P mutations in the Spanish population

  1. Characterization of Variants in the Glucosylceramide Synthase Gene and their Association with Type 1 Gaucher Disease Severity

    Human Mutation

    Volume 34, Issue 10, October 2013, Pages: 1396–1403, Pilar Alfonso, Joaquín Navascués, Silvia Navarro, Pilar Medina, Alfonso Bolado-Carrancio, Vanesa Andreu, Pilar Irún, José Carlos Rodríguez-Rey, Miguel Pocoví, Francisco España and Pilar Giraldo

    Version of Record online : 13 AUG 2013, DOI: 10.1002/humu.22381

  2. You have free access to this content
    Gaucher disease types 1 and 3: Phenotypic characterization of large populations from the ICGG Gaucher Registry

    American Journal of Hematology

    Volume 90, Issue S1, July 2015, Pages: S12–S18, Gregory A. Grabowski, Ari Zimran and Hiroyuki Ida

    Version of Record online : 22 JUN 2015, DOI: 10.1002/ajh.24063

  3. You have free access to this content
    The pharmacological chaperone isofagomine increases the activity of the Gaucher disease L444P mutant form of β-glucosidase

    The FEBS Journal

    Volume 277, Issue 7, April 2010, Pages: 1618–1638, Richie Khanna, Elfrida R. Benjamin, Lee Pellegrino, Adriane Schilling, Brigitte A. Rigat, Rebecca Soska, Hadis Nafar, Brian E. Ranes, Jessie Feng, Yi Lun, Allan C. Powe, David J. Palling, Brandon A. Wustman, Raphael Schiffmann, Don J. Mahuran, David J. Lockhart and Kenneth J. Valenzano

    Version of Record online : 10 FEB 2010, DOI: 10.1111/j.1742-4658.2010.07588.x

  4. New Insights into the Pharmacological Chaperone Activity of C2-Substituted Glucoimidazoles for the Treatment of Gaucher Disease


    Volume 14, Issue 10, July 8, 2013, Pages: 1239–1247, Zhonghua Li, Dr. Tiehai Li, Shaoxing Dai, Xiaoli Xie, Xiaofeng Ma, Dr. Wei Zhao, Weimin Zhang, Dr. Jing Li and Prof. Peng George Wang

    Version of Record online : 14 JUN 2013, DOI: 10.1002/cbic.201300197

  5. Glucocerebrosidase genotype of Gaucher patients in The Netherlands: Limitations in prognostic value

    Human Mutation

    Volume 10, Issue 5, 1997, Pages: 348–358, Rolf G. Boot, Carla E. M. Hollak, Marri Verhoek, Paul Sloof, Ben J. H. M. Poorthuis, Wim J. Kleijer, Ron A. Wevers, Marinus H. J. van Oers, Marcel M. A. M. Mannens, Johannes M. F. G. Aerts and Sonja van Weely

    Version of Record online : 8 JAN 1999, DOI: 10.1002/(SICI)1098-1004(1997)10:5<348::AID-HUMU3>3.0.CO;2-B

  6. Bicyclic Derivatives of L-Idonojirimycin as Pharmacological Chaperones for Neuronopathic Forms of Gaucher Disease


    Volume 14, Issue 8, May 27, 2013, Pages: 943–949, Dr. Pilar Alfonso, Dr. Vanesa Andreu, Dr. Almudena Pino-Angeles, Dr. Aurelio A. Moya-García, Dr. M. Isabel García-Moreno, Prof. José C. Rodríguez-Rey, Prof. Francisca Sánchez-Jiménez, Prof. Miguel Pocoví, Prof. Carmen Ortiz Mellet, Prof. Jose M. García Fernández and Prof. Pilar Giraldo

    Version of Record online : 18 APR 2013, DOI: 10.1002/cbic.201200708

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


    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

  8. Mutation analysis of Gaucher disease using dot-blood samples on FTA® filter paper

    American Journal of Medical Genetics

    Volume 94, Issue 5, 23 October 2000, Pages: 417–420, Natalie C. Devost and Francis Y.M. Choy

    Version of Record online : 19 OCT 2000, DOI: 10.1002/1096-8628(20001023)94:5<417::AID-AJMG14>3.0.CO;2-W

  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. A Fluorescent sp2-Iminosugar With Pharmacological Chaperone Activity for Gaucher Disease: Synthesis and Intracellular Distribution Studies


    Volume 11, Issue 17, November 22, 2010, Pages: 2453–2464, Dr. Zhuo Luan , Dr. Katsumi Higaki, Dr. Matilde Aguilar-Moncayo, Linjing Li, Prof. Haruaki Ninomiya, Prof. Eiji Nanba, Prof. Kousaku Ohno, Dr. M. Isabel García-Moreno, Prof. Carmen Ortiz Mellet, Prof. José M. García Fernández and Prof. Yoshiyuki Suzuki

    Version of Record online : 9 NOV 2010, DOI: 10.1002/cbic.201000323

  11. Glucosylceramide Mimics: Highly Potent GCase Inhibitors and Selective Pharmacological Chaperones for Mutations Associated with Types 1 and 2 Gaucher Disease


    Volume 8, Issue 11, November 2013, Pages: 1805–1817, Wojciech Schönemann, Dr. Estelle Gallienne, Dr. Kyoko Ikeda-Obatake, Dr. Naoki Asano, Shinpei Nakagawa, Dr. Atsushi Kato, Dr. Isao Adachi, Dr. Marcin Górecki, Prof. Jadwiga Frelek and Prof. Olivier R. Martin

    Version of Record online : 2 OCT 2013, DOI: 10.1002/cmdc.201300327

  12. You have full text access to this OnlineOpen article
    Hyposmia and cognitive impairment in Gaucher disease patients and carriers

    Movement Disorders

    Volume 27, Issue 4, April 2012, Pages: 526–532, Alisdair McNeill, Raquel Duran, Christos Proukakis, Jose Bras, Derralyn Hughes, Atuhl Mehta, John Hardy, Nicholas W. Wood and Anthony H.V. Schapira

    Version of Record online : 16 FEB 2012, DOI: 10.1002/mds.24945

  13. Gaucher disease: In vivo evidence for allele dose leading to neuronopathic and nonneuronopathic phenotypes

    American Journal of Medical Genetics Part A

    Volume 116A, Issue 1, 1 January 2003, Pages: 52–56, Huiquan Zhao, Laurie A. Bailey, Louis J. Elsas II, Karen A. Grinzaid and Gregory A. Grabowski

    Version of Record online : 19 NOV 2002, DOI: 10.1002/ajmg.a.10029

  14. 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

  15. The relationship between glucocerebrosidase mutations and Parkinson disease

    Journal of Neurochemistry

    Anna Migdalska-Richards and Anthony H. V. Schapira

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

  16. Chaperone Activity of Bicyclic Nojirimycin Analogues for Gaucher Mutations in Comparison with N-(n-nonyl)Deoxynojirimycin


    Volume 10, Issue 17, November 23, 2009, Pages: 2780–2792, Zhuo Luan, Katsumi Higaki, Matilde Aguilar-Moncayo, Haruaki Ninomiya, Kousaku Ohno, M. Isabel García-Moreno, Carmen Ortiz Mellet, José M. García Fernández and Yoshiyuki Suzuki

    Version of Record online : 14 OCT 2009, DOI: 10.1002/cbic.200900442

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    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

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    Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients

    Human Mutation

    Volume 20, Issue 3, September 2002, Pages: 234–235, Mirella Filocamo, Raffaella Mazzotti, Marina Stroppiano, Marco Seri, Fiorina Giona, Giancarlo Parenti, Stefano Regis, Fabio Corsolini, Stefania Zoboli and Rosanna Gatti

    Version of Record online : 21 AUG 2002, DOI: 10.1002/humu.9058

  19. Gaucher disease in Spanish patients: Analysis of eight mutations

    Human Mutation

    Volume 5, Issue 4, 1995, Pages: 303–309, Bru Cormand, Lluïsa Vilageliu, José M. Burguera, Susana Balcells, Roser Gonzàlez-Duarte, Daniel Grinberg and Amparo Chabás

    Version of Record online : 1 JUN 2005, DOI: 10.1002/humu.1380050406

  20. Application of a comprehensive protocol for the identification of Gaucher disease in Brazil

    American Journal of Medical Genetics Part A

    Volume 136A, Issue 1, 1 July 2005, Pages: 58–62, Kristiane Michelin, Alessandro Wajner, Fernanda T.S. de Souza, Alexandre S. de Mello, Maira G. Burin, Maria Luiza S. Pereira, Ricardo F. Pires, Roberto Giugliani and Janice C. Coelho

    Version of Record online : 3 JUN 2005, DOI: 10.1002/ajmg.a.30787