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Page 1
Safety and efficacy of venglustat in GBA1-associated Parkinson's disease: an international, multicentre, double-blind, randomised, placebo-controlled, phase 2 trial.
Giladi N, Alcalay RN, Cutter G, Gasser T, Gurevich T, Höglinger GU, Marek K, Pacchetti C, Schapira AHV, Scherzer CR, Simuni T, Minini P, Sardi SP, Peterschmitt MJ. Giladi N, et al. Among authors: sardi sp. Lancet Neurol. 2023 Aug;22(8):661-671. doi: 10.1016/S1474-4422(23)00205-3. Lancet Neurol. 2023. PMID: 37479372 Clinical Trial.
Lewy pathology formation in patient-derived GBA1 Parkinson's disease midbrain organoids.
Frattini E, Faustini G, Lopez G, Carsana EV, Tosi M, Trezzi I, Magni M, Soldà G, Straniero L, Facchi D, Samarani M, Martá-Ariza M, De Luca CMG, Vezzoli E, Pittaro A, Stepanyan A, Silipigni R, Rosety I, Schwamborn JC, Sardi SP, Moda F, Corti S, Comi GP, Blandini F, Tritsch NX, Bortolozzi M, Ferrero S, Cribiù FM, Wisniewski T, Asselta R, Aureli M, Bellucci A, Di Fonzo A. Frattini E, et al. Among authors: sardi sp. Brain. 2024 Nov 21:awae365. doi: 10.1093/brain/awae365. Online ahead of print. Brain. 2024. PMID: 39570889
Genome-wide association study of glucocerebrosidase activity modifiers.
Somerville EN, Krohn L, Senkevich K, Yu E, Ahmad J, Asayesh F, Ruskey JA, Speigelman D, Fahn S, Waters C, Sardi SP, Alcalay RN, Gan-Or Z. Somerville EN, et al. Among authors: sardi sp. Res Sq [Preprint]. 2024 Jun 7:rs.3.rs-4425669. doi: 10.21203/rs.3.rs-4425669/v1. Res Sq. 2024. PMID: 38883744 Free PMC article. Preprint.
Pompe disease: Unmet needs and emerging therapies.
George KA, Anding AL, van der Flier A, Tomassy GS, Berger KI, Zhang TY, Sardi SP. George KA, et al. Among authors: sardi sp. Mol Genet Metab. 2024 Nov;143(3):108590. doi: 10.1016/j.ymgme.2024.108590. Epub 2024 Oct 11. Mol Genet Metab. 2024. PMID: 39418752 Review.
Increasing Enzyme Mannose-6-Phosphate Levels but Not Miglustat Coadministration Enhances the Efficacy of Enzyme Replacement Therapy in Pompe Mice.
Anding A, Kinton S, Baranowski K, Brezzani A, De Busser H, Dufault MR, Finn P, Keefe K, Tetrault T, Li Y, Qiu W, Raes K, Vitse O, Zhang M, Ziegler R, Sardi SP, Hunter B, George K. Anding A, et al. Among authors: sardi sp. J Pharmacol Exp Ther. 2023 Nov;387(2):188-203. doi: 10.1124/jpet.123.001593. Epub 2023 Sep 7. J Pharmacol Exp Ther. 2023. PMID: 37679046
Validation, Deployment, and Real-World Implementation of a Modular Toolbox for Alzheimer's Disease Detection and Dementia Risk Reduction: The AD-RIDDLE Project.
Malzbender K, Barbarino P, Barkman Ferrell P, Bradshaw A, Brookes AJ, Díaz C, van der Flier WM, Georges J, Hansson O, Hartmanis M, Jönsson L, Krishnan R, MacLeod T, Mangialasche F, Mecocci P, Minguillon C, Middleton L, Pla S, Sardi SP, Schöll M, Suárez-Calvet M, Weidner W, Visser PJ, Zetterberg H, Bose N, Solomon A, Kivipelto M. Malzbender K, et al. Among authors: sardi sp. J Prev Alzheimers Dis. 2024;11(2):329-338. doi: 10.14283/jpad.2024.32. J Prev Alzheimers Dis. 2024. PMID: 38374739
Open science in precision medicine for neurodegenerative diseases.
Leonard HL, Nalls MA, Day-Williams A, Esmaeeli S, Jarreau P, Bandres-Ciga S, Heutink P, Sardi SP, Singleton AB. Leonard HL, et al. Among authors: sardi sp. Nat Rev Drug Discov. 2024 Apr;23(4):233-234. doi: 10.1038/d41573-024-00017-3. Nat Rev Drug Discov. 2024. PMID: 38287165 Free PMC article.
GALC variants affect galactosylceramidase enzymatic activity and risk of Parkinson's disease.
Senkevich K, Zorca CE, Dworkind A, Rudakou U, Somerville E, Yu E, Ermolaev A, Nikanorova D, Ahmad J, Ruskey JA, Asayesh F, Spiegelman D, Fahn S, Waters C, Monchi O, Dauvilliers Y, Dupré N, Greenbaum L, Hassin-Baer S, Grenn FP, Chiang MSR, Sardi SP, Vanderperre B, Blauwendraat C, Trempe JF, Fon EA, Durcan TM, Alcalay RN, Gan-Or Z. Senkevich K, et al. Among authors: sardi sp. Brain. 2023 May 2;146(5):1859-1872. doi: 10.1093/brain/awac413. Brain. 2023. PMID: 36370000 Free PMC article.
85 results