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Clinical Evaluation of Sibling Pairs With Gaucher Disease Discordant for Parkinsonism
Movement Disorders ( IF 7.4 ) Pub Date : 2019-11-30 , DOI: 10.1002/mds.27916 Grisel Lopez 1 , Alta Steward 1 , Emory Ryan 1 , Catherine Groden , Edythe Wiggs 1 , Laura Segalà 2 , Gianina M Monestime 1 , Nahid Tayebi 1 , Ellen Sidransky 1
Movement Disorders ( IF 7.4 ) Pub Date : 2019-11-30 , DOI: 10.1002/mds.27916 Grisel Lopez 1 , Alta Steward 1 , Emory Ryan 1 , Catherine Groden , Edythe Wiggs 1 , Laura Segalà 2 , Gianina M Monestime 1 , Nahid Tayebi 1 , Ellen Sidransky 1
Affiliation
Although the association between mutations in GBA1 and parkinsonism is well established, most GBA1 mutation carriers never develop parkinsonism, implicating the contribution of other genetic, epigenetic, and/or environmental modifiers.
中文翻译:
帕金森氏症戈谢病不一致的同胞对的临床评价
尽管 GBA1 突变与帕金森病之间的关联已经确立,但大多数 GBA1 突变携带者从未发展为帕金森病,这暗示了其他遗传、表观遗传和/或环境修饰因素的作用。
更新日期:2019-11-30
中文翻译:
帕金森氏症戈谢病不一致的同胞对的临床评价
尽管 GBA1 突变与帕金森病之间的关联已经确立,但大多数 GBA1 突变携带者从未发展为帕金森病,这暗示了其他遗传、表观遗传和/或环境修饰因素的作用。