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Page 1
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.
LRRK2 p.M1646T is associated with glucocerebrosidase activity and with Parkinson's disease.
Sosero YL, Yu E, Krohn L, Rudakou U, Mufti K, Ruskey JA, Asayesh F, Laurent SB, Spiegelman D, Fahn S, Waters C, Sardi SP, Bandres-Ciga S, Alcalay RN, Gan-Or Z, Senkevich K. Sosero YL, et al. Among authors: sardi sp. Neurobiol Aging. 2021 Jul;103:142.e1-142.e5. doi: 10.1016/j.neurobiolaging.2021.02.018. Epub 2021 Feb 28. Neurobiol Aging. 2021. PMID: 33781610 Free PMC article.
Longitudinal Measurements of Glucocerebrosidase activity in Parkinson's patients.
Alcalay RN, Wolf P, Chiang MSR, Helesicova K, Zhang XK, Merchant K, Hutten SJ, Scherzer C, Caspell-Garcia C, Blauwendraat C, Foroud T, Nudelman K, Gan-Or Z, Simuni T, Chahine LM, Levy O, Zheng D, Li G, Sardi SP; Parkinson’s Progression Markers Initiative. Alcalay RN, et al. Among authors: sardi sp. Ann Clin Transl Neurol. 2020 Oct;7(10):1816-1830. doi: 10.1002/acn3.51164. Epub 2020 Sep 5. Ann Clin Transl Neurol. 2020. PMID: 32888397 Free PMC article.
β-Glucocerebrosidase activity in GBA-linked Parkinson disease: The type of mutation matters.
Huh YE, Chiang MSR, Locascio JJ, Liao Z, Liu G, Choudhury K, Kuras YI, Tuncali I, Videnovic A, Hunt AL, Schwarzschild MA, Hung AY, Herrington TM, Hayes MT, Hyman BT, Wills AM, Gomperts SN, Growdon JH, Sardi SP, Scherzer CR. Huh YE, et al. Among authors: sardi sp. Neurology. 2020 Aug 11;95(6):e685-e696. doi: 10.1212/WNL.0000000000009989. Epub 2020 Jun 15. Neurology. 2020. PMID: 32540937 Free PMC article.
Revisiting protein aggregation as pathogenic in sporadic Parkinson and Alzheimer diseases.
Espay AJ, Vizcarra JA, Marsili L, Lang AE, Simon DK, Merola A, Josephs KA, Fasano A, Morgante F, Savica R, Greenamyre JT, Cambi F, Yamasaki TR, Tanner CM, Gan-Or Z, Litvan I, Mata IF, Zabetian CP, Brundin P, Fernandez HH, Standaert DG, Kauffman MA, Schwarzschild MA, Sardi SP, Sherer T, Perry G, Leverenz JB. Espay AJ, et al. Among authors: sardi sp. Neurology. 2019 Feb 12;92(7):329-337. doi: 10.1212/WNL.0000000000006926. Neurology. 2019. PMID: 30745444 Free PMC article. Review.
The commercial genetic testing landscape for Parkinson's disease.
Cook L, Schulze J, Verbrugge J, Beck JC, Marder KS, Saunders-Pullman R, Klein C, Naito A, Alcalay RN; ClinGen Parkinson's Disease Gene Curation Expert Panel and the MDS Task Force for Recommendations for Genetic Testing in Parkinson's Disease; Clinical Genome Resource (ClinGen) Parkinson's Disease Gene Curation Expert Panel Authors; Movement Society Disorder (MDS) Task Force on Recommendations for Clinical Genetic Testing in Parkinson's Disease Authors. Cook L, et al. Parkinsonism Relat Disord. 2021 Nov;92:107-111. doi: 10.1016/j.parkreldis.2021.10.001. Epub 2021 Oct 19. Parkinsonism Relat Disord. 2021. PMID: 34696975 Free PMC article.
Safety, Pharmacokinetics, and Pharmacodynamics of Oral Venglustat in Patients with Parkinson's Disease and a GBA Mutation: Results from Part 1 of the Randomized, Double-Blinded, Placebo-Controlled MOVES-PD Trial.
Peterschmitt MJ, Saiki H, Hatano T, Gasser T, Isaacson SH, Gaemers SJM, Minini P, Saubadu S, Sharma J, Walbillic S, Alcalay RN, Cutter G, Hattori N, Höglinger GU, Marek K, Schapira AHV, Scherzer CR, Simuni T, Giladi N, Sardi SP, Fischer TZ; MOVES-PD Investigators. Peterschmitt MJ, et al. Among authors: sardi sp. J Parkinsons Dis. 2022;12(2):557-570. doi: 10.3233/JPD-212714. J Parkinsons Dis. 2022. PMID: 34897099 Free PMC article. Clinical Trial.
Mutant glucocerebrosidase impairs α-synuclein degradation by blockade of chaperone-mediated autophagy.
Kuo SH, Tasset I, Cheng MM, Diaz A, Pan MK, Lieberman OJ, Hutten SJ, Alcalay RN, Kim S, Ximénez-Embún P, Fan L, Kim D, Ko HS, Yacoubian T, Kanter E, Liu L, Tang G, Muñoz J, Sardi SP, Li A, Gan L, Cuervo AM, Sulzer D. Kuo SH, et al. Among authors: sardi sp. Sci Adv. 2022 Feb 11;8(6):eabm6393. doi: 10.1126/sciadv.abm6393. Epub 2022 Feb 9. Sci Adv. 2022. PMID: 35138901 Free article.
85 results