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A pathogenic variant in RAB32 causes autosomal dominant Parkinson's disease and activates LRRK2 kinase.
Gustavsson EK, Follett J, Trinh J, Barodia SK, Real R, Liu Z, Grant-Peters M, Fox JD, Appel-Cresswell S, Stoessl AJ, Rajput A, Rajput AH, Auer R, Tilney R, Sturm M, Haack TB, Lesage S, Tesson C, Brice A, Vilariño-Güell C, Ryten M, Goldberg MS, West AB, Hu MT, Morris HR, Sharma M, Gan-Or Z, Samanci B, Lis P, Tocino T, Amouri R, Sassi SB, Hentati F; Global Parkinson’s Genetics Program (GP2); Tonelli F, Alessi DR, Farrer MJ. Gustavsson EK, et al. Among authors: sharma m. medRxiv [Preprint]. 2024 Jan 18:2024.01.17.24300927. doi: 10.1101/2024.01.17.24300927. medRxiv. 2024. PMID: 38293014 Free PMC article. Preprint.
A large-scale genetic association study to evaluate the contribution of Omi/HtrA2 (PARK13) to Parkinson's disease.
Krüger R, Sharma M, Riess O, Gasser T, Van Broeckhoven C, Theuns J, Aasly J, Annesi G, Bentivoglio AR, Brice A, Djarmati A, Elbaz A, Farrer M, Ferrarese C, Gibson JM, Hadjigeorgiou GM, Hattori N, Ioannidis JP, Jasinska-Myga B, Klein C, Lambert JC, Lesage S, Lin JJ, Lynch T, Mellick GD, de Nigris F, Opala G, Prigione A, Quattrone A, Ross OA, Satake W, Silburn PA, Tan EK, Toda T, Tomiyama H, Wirdefeldt K, Wszolek Z, Xiromerisiou G, Maraganore DM; Genetic Epidemiology of Parkinson's disease consortium. Krüger R, et al. Among authors: sharma m. Neurobiol Aging. 2011 Mar;32(3):548.e9-18. doi: 10.1016/j.neurobiolaging.2009.11.021. Epub 2009 Dec 24. Neurobiol Aging. 2011. PMID: 20036034 Free PMC article.
Single-Cell Patch-Clamp/Proteomics of Human Alzheimer's Disease iPSC-Derived Excitatory Neurons Versus Isogenic Wild-Type Controls Suggests Novel Causation and Therapeutic Targets.
Ghatak S, Diedrich JK, Talantova M, Bhadra N, Scott H, Sharma M, Albertolle M, Schork NJ, Yates JR 3rd, Lipton SA. Ghatak S, et al. Among authors: sharma m. Adv Sci (Weinh). 2024 May 21:e2400545. doi: 10.1002/advs.202400545. Online ahead of print. Adv Sci (Weinh). 2024. PMID: 38773714
Une transplantation qui pose des choix difficiles.
Raju S, Sharma M. Raju S, et al. Among authors: sharma m. CMAJ. 2024 May 20;196(19):E676-E678. doi: 10.1503/cmaj.230298-f. CMAJ. 2024. PMID: 38772605 Free PMC article. French. No abstract available.
Polygenic Risk Scores Validated in Patient-Derived Cells Stratify for Mitochondrial Subtypes of Parkinson's Disease.
Arena G, Landoulsi Z, Grossmann D, Payne T, Vitali A, Delcambre S, Baron A, Antony P, Boussaad I, Bobbili DR, Sreelatha AAK, Pavelka L, J Diederich N, Klein C, Seibler P, Glaab E, Foltynie T, Bandmann O, Sharma M, Krüger R, May P, Grünewald A; NCER‐PD and COURAGE‐PD Consortia. Arena G, et al. Among authors: sharma m. Ann Neurol. 2024 May 20. doi: 10.1002/ana.26949. Online ahead of print. Ann Neurol. 2024. PMID: 38767023
Double left atrial appendage: A diagnostic dilemma.
Dutta N, Das D, Chakraborty U, Das S, Sharma MK, Gajpal S, Chattopadhyay A, Ghosh S, Das JN. Dutta N, et al. Among authors: sharma mk. Ann Pediatr Cardiol. 2023 Sep-Oct;16(5):378-380. doi: 10.4103/apc.apc_136_23. Epub 2024 Apr 1. Ann Pediatr Cardiol. 2023. PMID: 38766452 Free PMC article.
9,597 results