Glucocerebrosidase Gene Mutations and Parkinsonism
作者： J. Aharon-Peretz
DOI: 10.1016/B978-0-12-374105-9.00180-5
关键词:
摘要: The association between the glucocerebrosidase gene and Parkinson’s disease indicates that mutations increase susceptibility to parkinsonism in heterozygotes from diverse ethnicities. Carriage of mutant is one most significant risk factors identified date.
sci-hub.se 参考文章(11)
O Goker-Alpan, KS Hruska, E Orvisky, PS Kishnani, BK Stubblefield, R Schiffmann, E Sidransky, Divergent phenotypes in Gaucher disease implicate the role of modifiers Journal of Medical Genetics. ,vol. 42, pp. e37- e37 ,(2005) , 10.1136/JMG.2004.028019
E Sidransky, Heterozygosity for a Mendelian disorder as a risk factor for complex disease. Clinical Genetics. ,vol. 70, pp. 275- 282 ,(2006) , 10.1111/J.1399-0004.2006.00688.X
Judith Aharon-Peretz, Hanna Rosenbaum, Ruth Gershoni-Baruch, Mutations in the Glucocerebrosidase Gene and Parkinson's Disease in Ashkenazi Jews The New England Journal of Medicine. ,vol. 351, pp. 1972- 1977 ,(2004) , 10.1056/NEJMOA033277
Ellen Sidransky, Gaucher disease: complexity in a “simple” disorder Molecular Genetics and Metabolism. ,vol. 83, pp. 6- 15 ,(2004) , 10.1016/J.YMGME.2004.08.015
L. N. Clark, B. M. Ross, Y. Wang, H. Mejia-Santana, J. Harris, E. D. Louis, L. J. Cote, H. Andrews, S. Fahn, C. Waters, B. Ford, S. Frucht, R. Ottman, K. Marder, Mutations in the glucocerebrosidase gene are associated with early-onset Parkinson disease. Neurology. ,vol. 69, pp. 1270- 1277 ,(2007) , 10.1212/01.WNL.0000276989.17578.02
O Goker-Alpan, R Schiffmann, ME LaMarca, RL Nussbaum, A McInerney-Leo, E Sidransky, Parkinsonism among Gaucher disease carriers Journal of Medical Genetics. ,vol. 41, pp. 937- 940 ,(2004) , 10.1136/JMG.2004.024455
Kathleen S. Hruska, Ozlem Goker-Alpan, Ellen Sidransky, Gaucher Disease and the Synucleinopathies BioMed Research International. ,vol. 2006, pp. 78549- 78549 ,(2006) , 10.1155/JBB/2006/78549
A Lwin, Glucocerebrosidase mutations in subjects with parkinsonism Molecular Genetics and Metabolism. ,vol. 81, pp. 70- 73 ,(2004) , 10.1016/J.YMGME.2003.11.004
Kondi Wong, Ellen Sidransky, Ajay Verma, Tonghui Mixon, Glenn D Sandberg, Laura K Wakefield, Alan Morrison, Alicia Lwin, Carlos Colegial, John M Allman, Raphael Schiffmann, Neuropathology provides clues to the pathophysiology of Gaucher disease Molecular Genetics and Metabolism. ,vol. 82, pp. 192- 207 ,(2004) , 10.1016/J.YMGME.2004.04.011
Michael J. Eblan, Sonja Scholz, Barbara Stubblefield, Usha Gutti, Ozlem Goker-Alpan, Kathleen S. Hruska, Andrew B. Singleton, Ellen Sidransky, Glucocerebrosidase mutations are not found in association with LRRK2 G2019S in subjects with parkinsonism. Neuroscience Letters. ,vol. 404, pp. 163- 165 ,(2006) , 10.1016/J.NEULET.2006.05.032