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LRRK2 rare-variant per-domain genetic burden in Parkinson's Disease: association confined to the kinase domain LRRK2罕见变异各结构域遗传负担在帕金森病中的关联：局限于激酶结构域 Parlar, Sitki Cem; Senkevich, Konstantin; Yu, Eric; Ruskey, Jennifer A.; Ahmad, Jamil; Asayesh, Farnaz; Spiegelman, Dan; Waters, Cheryl; Monchi, Oury; Dauvilliers, Yves; Dupre, Nicolas; Greenbaum, Lior; Hassin-Baer, Sharon; Miliukhina, Irina; Timofeeva, Alla; Emelyanov, Anton; Pchelina, Sofya; Alcalay, Roy N.; Fon, Edward A.; Trempe, Jean-Francois 分享 收藏
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Is the Subthalamic Nucleus Sleeping Under Nitrous Oxide-Ketamine General Anesthesia? 丘脑底核在笑气-氯胺酮全身麻醉下是否处于睡眠状态？ Erdman, Halen Baker; Bergman, Hagai; Haya, Karin Abu; Glowinsky, Stefanie; Warhaftig, Lotem; Leon, Juan F.; Israel, Zvi; Abu Snineh, Muneer; Kornilov, Evgeniya; Zarchi, Omer; Tamir, Idit; Reiner, Johnathan; Fay-Karmon, Tsvia; Hassin-Baer, Sharon; Glauber, Violeta; Nir, Tomer; Gonzalez, Jose Antonio Asprilla; Ungar, Lior; Zibly, Zion 分享 收藏
The Parkinson's disease risk gene cathepsin B promotes fibrillar alpha-synuclein clearance, lysosomal function and glucocerebrosidase activity in dopaminergic neurons (vol 19, 88, 2024) Jones-Tabah, Jace; He, Kathy; Karpilovsky, Nathan; Senkevich, Konstantin; Deyab, Ghislaine; Pietrantonio, Isabella; Goiran, Thomas; Cousineau, Yuting; Nikanorova, Daria; Goldsmith, Taylor; del Cid Pellitero, Esther; Chen, Carol X. -Q.; Luo, Wen; You, Zhipeng; Abdian, Narges; Ahmad, Jamil; Ruskey, Jennifer A.; Asayesh, Farnaz; Spiegelman, Dan; Fahn, Stanley; Waters, Cheryl; Monchi, Oury; Dauvilliers, Yves; Dupre, Nicolas; Miliukhina, Irina; Timofeeva, Alla; Emelyanov, Anton; Pchelina, Sofya; Greenbaum, Lior; Hassin-Baer, Sharon; Alcalay, Roy N.; Milnerwood, Austen; Durcan, Thomas M.; Gan-Or, Ziv; Fon, Edward A. 分享 收藏
The Parkinson's disease risk gene cathepsin B promotes fibrillar alpha-synuclein clearance, lysosomal function and glucocerebrosidase activity in dopaminergic neurons 帕金森氏病风险基因组织蛋白酶B促进多巴胺能神经元中纤维状 α-突触核蛋白清除，溶酶体功能和葡糖脑苷脂酶活性 Jones-Tabah, Jace; He, Kathy; Karpilovsky, Nathan; Senkevich, Konstantin; Deyab, Ghislaine; Pietrantonio, Isabella; Goiran, Thomas; Cousineau, Yuting; Nikanorova, Daria; Goldsmith, Taylor; del Cid Pellitero, Esther; Chen, Carol X. -Q.; Luo, Wen; You, Zhipeng; Abdian, Narges; Ahmad, Jamil; Ruskey, Jennifer A.; Asayesh, Farnaz; Spiegelman, Dan; Fahn, Stanley; Waters, Cheryl; Monchi, Oury; Dauvilliers, Yves; Dupre, Nicolas; Miliukhina, Irina; Timofeeva, Alla; Emelyanov, Anton; Pchelina, Sofya; Greenbaum, Lior; Hassin-Baer, Sharon; Alcalay, Roy N.; Milnerwood, Austen; Durcan, Thomas M.; Gan-Or, Ziv; Fon, Edward A. 分享 收藏
Are rare heterozygous SYNJ1 variants associated with Parkinson's disease? Senkevich, Konstantin; Parlar, Sitki Cem; Chantereault, Cloe; Yu, Eric; Ahmad, Jamil; Ruskey, Jennifer A.; Asayesh, Farnaz; Spiegelman, Dan; Waters, Cheryl; Monchi, Oury; Dauvilliers, Yves; Dupre, Nicolas; Miliukhina, Irina; Timofeeva, Alla; Emelyanov, Anton; Pchelina, Sofya; Greenbaum, Lior; Hassin-Baer, Sharon; Alcalay, Roy N.; Gan-Or, Ziv 分享 收藏
Levodopa-carbidopa intestinal gel for advanced Parkinson's ' s disease: Impact of LRRK2 and GBA1 mutations Thaler, Avner; Anis, Saar; Ponger, Penina; Fay-Karmon, Tsviya; Livneh, Vered; Faust-Socher, Achinoam; Greenbaum, Lior; Reiner, Johnathan; Hilel, Ariela; Shabtai, Hertzel; Alcalay, Roy N.; Djaldetti, Ruth; Hassin-Baer, Sharon; Ezra, Adi; Mirelman, Anat; Giladi, Nir; Gurevich, Tanya 分享 收藏
A novel super-resolution microscopy platform for cutaneous alpha-synuclein detection in Parkinson's disease 一种用于帕金森病皮肤 α-突触核蛋白检测的新型超分辨率显微镜平台 Sade, Ofir; Fischel, Daphna; Barak-Broner, Noa; Halevi, Shir; Gottfried, Irit; Bar-On, Dana; Sachs, Stefan; Mirelman, Anat; Thaler, Avner; Gour, Aviv; Kestenbaum, Meir; Gana Weisz, Mali; Anis, Saar; Soto, Claudio; Roitman, Melanie Shanie; Shahar, Shimon; Doppler, Kathrin; Sauer, Markus; Giladi, Nir; Lev, Nirit; Alcalay, Roy N.; Hassin-Baer, Sharon; Ashery, Uri 分享 收藏
The yield of genetic workup for middle-aged and elderly patients with neurological disorders in a real-world setting Lempel, Noga; Shelly, Shahar; Chorin, Odelia; Rock, Rachel; Eliyahu, Aviva; Finezilber, Yael; Poran, Hana; Feinstein-Goren, Neta; Segev, Meirav; Reznik-Wolf, Haike; Barel, Ortal; Orion, David; Anis, Saar; Regev, Miriam; Yonath, Hagith; Dominissini, Dan; Blatt, Ilan; Hassin-Baer, Sharon; Dori, Amir; Pras, Elon; Greenbaum, Lior 分享 收藏
Are LRRK2 p.G2019S or GBA1 variants associated with long-term outcomes of deep brain stimulation for Parkinson's disease? Anis, Saar; Goldberg, Tomer; Shvueli, Ethan; Kozlov, Yuval; Redlich, Yonatan; Lavi, Naama; Lavie, Inbar; Sosero, Yuri Ludwig; Gan-Or, Ziv; Ungar, Lior; Zibly, Zion; Greenbaum, Lior; Fay-Karmon, Tsvia; Hassin-Baer, Sharon 分享 收藏
Chenodeoxycholic acid (CDCA) treatment during pregnancy in women with cerebrotendinous xanthomatosis (CTX): Lessons learned from 19 pregnancies 患有脑膜黄瘤病 (CTX) 的妇女在怀孕期间的鹅去氧胆酸 (CDCA) 治疗: 从19次怀孕中吸取的经验教训 Zaccai, Tzipora C. Falik; Hassin-Baer, Sharon; Kfir, Nehama Cohen; Duell, P. Barton; Neerhof, Mark; Sloma, Ronen; Roitman, Melanie; Kisanuki, Yaz Y.; Verrips, Aad; DeBarber, Andrea E. 分享 收藏
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Association of Rare Variants in ARSA with Parkinson's Disease Senkevich, Konstantin; Beletskaia, Mariia; Dworkind, Aliza; Yu, Eric; Ahmad, Jamil; Ruskey, Jennifer A.; Asayesh, Farnaz; Spiegelman, Dan; Fahn, Stanley; Waters, Cheryl; Monchi, Oury; Dauvilliers, Yves; Dupre, Nicolas; Greenbaum, Lior; Hassin-Baer, Sharon; Nagornov, Ilya; Tyurin, Alexandr; Miliukhina, Irina; Timofeeva, Alla; Emelyanov, Anton; Trempe, Jean-Francois; Zakharova, Ekaterina; Alcalay, Roy N.; Pchelina, Sofya; Gan-Or, Ziv 分享 收藏
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GALC variants affect galactosylceramidase enzymatic activity and risk of Parkinson's disease Senkevich, Konstantin; Zorca, Cornelia E.; Dworkind, Aliza; Rudakou, Uladzislau; Somerville, Emma; Yu, Eric; Ermolaev, Alexey; Nikanorova, Daria; Ahmad, Jamil; Ruskey, Jennifer A.; Asayesh, Farnaz; Spiegelman, Da; Fahn, Stanley; Waters, Cheryl; Monchi, Oury; Dauvilliers, Yves; Dupre, Nicolas; Greenbaum, Lior; Hassin-Baer, Sharon; Grenn, Francis P.; Chiang, Ming Sum Ruby; Sardi, S. Pablo; Vanderperre, Benoit; Blauwendraat, Cornelis; Trempe, Jean-Francois; Fon, Edward A.; Durcan, Thomas M.; Alcalay, Roy N.; Gan-Or, Ziv 分享 收藏
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