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There are 119043 results for: content related to: Association of the glucocerebrosidase N370S allele with Parkinson’s disease in two separate Chinese Han populations of mainland China

  1. 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

  2. Glucocerebrosidase mutations confer a greater risk of dementia during Parkinson's disease course

    Movement Disorders

    Volume 27, Issue 3, March 2012, Pages: 393–399, Núria Setó-Salvia, Javier Pagonabarraga, Henry Houlden, Berta Pascual-Sedano, Oriol Dols-Icardo, Arianna Tucci, Coro Paisán-Ruiz, Antonia Campolongo, Sofía Antón-Aguirre, Inés Martín, Laia Muñoz, Enric Bufill, Lluïsa Vilageliu, Daniel Grinberg, Mónica Cozar, Rafael Blesa, Alberto Lleó, John Hardy, Jaime Kulisevsky and Jordi Clarimón

    Version of Record online : 15 DEC 2011, DOI: 10.1002/mds.24045

  3. 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

  4. 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

  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. You have full text access to this OnlineOpen article
    Glucocerebrosidase Mutations alter the endoplasmic reticulum and lysosomes in Lewy body disease

    Journal of Neurochemistry

    Volume 123, Issue 2, October 2012, Pages: 298–309, Marzena Kurzawa-Akanbi, Peter S Hanson, Peter G Blain, Debra J Lett, Ian G McKeith, Patrick F Chinnery and Christopher M Morris

    Version of Record online : 22 AUG 2012, DOI: 10.1111/j.1471-4159.2012.07879.x

  7. Mutations causing gaucher disease

    Human Mutation

    Volume 3, Issue 1, 1994, Pages: 1–11, Mia Horowitz and Ari Zimran

    Version of Record online : 1 JUN 2005, DOI: 10.1002/humu.1380030102

  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. Mutation analysis of Gaucher disease patients from Argentina: High prevalence of the RecNciI mutation

    American Journal of Medical Genetics

    Volume 80, Issue 4, 4 December 1998, Pages: 343–351, Bru Cormand, Theresa L. Harboe, Laura Gort, Cristina Campoy, Mariana Blanco, Néstor Chamoles, Amparo Chabás, Lluïsa Vilageliu and Daniel Grinberg

    Version of Record online : 15 DEC 1998, DOI: 10.1002/(SICI)1096-8628(19981204)80:4<343::AID-AJMG8>3.0.CO;2-W

  10. RecTL: A complex allele of the glucocerebrosidase gene associated with a mild clinical course of Gaucher disease

    American Journal of Medical Genetics

    Volume 50, Issue 1, 1 March 1994, Pages: 74–78, Ari Zimran and Mia Horowitz

    Version of Record online : 7 JUN 2005, DOI: 10.1002/ajmg.1320500116

  11. Gaucher Disease

    Protein Misfolding Diseases: Current and Emerging Principles and Therapies

    Marina Ramirez-Alvarado, Jeffery W. Kelly, Christopher M. Dobson, Pages: 469–485, 2010

    Published Online : 2 JUL 2010, DOI: 10.1002/9780470572702.ch21

  12. 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

  13. Gaucher disease: N370S glucocerebrosidase gene frequency in the Portuguese population

    Clinical Genetics

    Volume 45, Issue 6, June 1994, Pages: 298–300, L. Lacerda, O. Amaral, R. Pinto, P. Oliveira, J. Aerts and M. C. Sá Miranda

    Version of Record online : 28 JUN 2008, DOI: 10.1111/j.1399-0004.1994.tb04034.x

  14. Glucocerebrosidase mutations in a Serbian Parkinson's disease population

    European Journal of Neurology

    Volume 20, Issue 2, February 2013, Pages: 402–405, K. R. Kumar, A. Ramirez, A. Göbel, N. Kresojević, M. Svetel, K. Lohmann, C. M Sue, A. Rolfs, J. R. Mazzulli, R. N. Alcalay, D. Krainc, C. Klein, V. Kostic and A. Grünewald

    Version of Record online : 19 JUL 2012, DOI: 10.1111/j.1468-1331.2012.03817.x

  15. Two new mild homozygous mutations in Gaucher disease patients: Clinical signs and biochemical analyses

    American Journal of Medical Genetics

    Volume 70, Issue 4, 27 June 1997, Pages: 437–443, Bru Cormand, Daniel Grinberg, Laura Gort, Agata Fiumara, Rita Barone, Lluïsa Vilageliu and Amparo Chabás

    Version of Record online : 6 DEC 1998, DOI: 10.1002/(SICI)1096-8628(19970627)70:4<437::AID-AJMG19>3.0.CO;2-I

  16. 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

  17. Pilot association study of the β-glucocerebrosidase N370S allele and Parkinson's disease in subjects of Jewish ethnicity

    Movement Disorders

    Volume 20, Issue 1, January 2005, Pages: 100–103, Lorraine N. Clark, Angelique Nicolai, Shehla Afridi, Juliette Harris, Helen Mejia-Santana, Lisa Strug, Lucien J. Cote, Elan D. Louis, Howard Andrews, Cheryl Waters, Blair Ford, Steven Frucht, Stanley Fahn, Richard Mayeux, Ruth Ottman and K. Marder

    Version of Record online : 29 OCT 2004, DOI: 10.1002/mds.20320

  18. 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

  19. A rare G6490 [RIGHTWARDS ARROW] substitution at the last nucleotide of exon 10 of the glucocerebrosidase gene in two unrelated Italian Gaucher patients

    Clinical Genetics

    Volume 48, Issue 3, September 1995, Pages: 123–127, Marco Seri, Mirella Filocamo, Fabio Corsolini, Bruno Bembi, Cristiana Barbara and Rosanna Gatti

    Version of Record online : 28 JUN 2008, DOI: 10.1111/j.1399-0004.1995.tb04070.x

  20. The association between mutations in the lysosomal protein glucocerebrosidase and parkinsonism

    Movement Disorders

    Volume 24, Issue 11, 15 August 2009, Pages: 1571–1578, John DePaolo, Ozlem Goker-Alpan, Ted Samaddar, Grisel Lopez and Ellen Sidransky

    Version of Record online : 7 MAY 2009, DOI: 10.1002/mds.22538