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Page 1
Identification of Candidate Parkinson Disease Genes by Integrating Genome-Wide Association Study, Expression, and Epigenetic Data Sets.
Kia DA, Zhang D, Guelfi S, Manzoni C, Hubbard L, Reynolds RH, Botía J, Ryten M, Ferrari R, Lewis PA, Williams N, Trabzuni D, Hardy J, Wood NW; United Kingdom Brain Expression Consortium (UKBEC) and the International Parkinson’s Disease Genomics Consortium (IPDGC). Kia DA, et al. Among authors: guelfi s. JAMA Neurol. 2021 Apr 1;78(4):464-472. doi: 10.1001/jamaneurol.2020.5257. JAMA Neurol. 2021. PMID: 33523105 Free PMC article.
Regulation of mitophagy by the NSL complex underlies genetic risk for Parkinson's disease at 16q11.2 and MAPT H1 loci.
Soutar MPM, Melandri D, O'Callaghan B, Annuario E, Monaghan AE, Welsh NJ, D'Sa K, Guelfi S, Zhang D, Pittman A, Trabzuni D, Verboven AHA, Pan KS, Kia DA, Bictash M, Gandhi S, Houlden H, Cookson MR, Kasri NN, Wood NW, Singleton AB, Hardy J, Whiting PJ, Blauwendraat C, Whitworth AJ, Manzoni C, Ryten M, Lewis PA, Plun-Favreau H. Soutar MPM, et al. Among authors: guelfi s. Brain. 2022 Dec 19;145(12):4349-4367. doi: 10.1093/brain/awac325. Brain. 2022. PMID: 36074904 Free PMC article.
Unravelling cell type-specific responses to Parkinson's Disease at single cell resolution.
Martirosyan A, Ansari R, Pestana F, Hebestreit K, Gasparyan H, Aleksanyan R, Hnatova S, Poovathingal S, Marneffe C, Thal DR, Kottick A, Hanson-Smith VJ, Guelfi S, Plumbly W, Belgard TG, Metzakopian E, Holt MG. Martirosyan A, et al. Among authors: guelfi s. Mol Neurodegener. 2024 Jan 20;19(1):7. doi: 10.1186/s13024-023-00699-0. Mol Neurodegener. 2024. PMID: 38245794 Free PMC article.
Common genetic variants influence human subcortical brain structures.
Hibar DP, Stein JL, Renteria ME, Arias-Vasquez A, Desrivières S, Jahanshad N, Toro R, Wittfeld K, Abramovic L, Andersson M, Aribisala BS, Armstrong NJ, Bernard M, Bohlken MM, Boks MP, Bralten J, Brown AA, Chakravarty MM, Chen Q, Ching CR, Cuellar-Partida G, den Braber A, Giddaluru S, Goldman AL, Grimm O, Guadalupe T, Hass J, Woldehawariat G, Holmes AJ, Hoogman M, Janowitz D, Jia T, Kim S, Klein M, Kraemer B, Lee PH, Olde Loohuis LM, Luciano M, Macare C, Mather KA, Mattheisen M, Milaneschi Y, Nho K, Papmeyer M, Ramasamy A, Risacher SL, Roiz-Santiañez R, Rose EJ, Salami A, Sämann PG, Schmaal L, Schork AJ, Shin J, Strike LT, Teumer A, van Donkelaar MM, van Eijk KR, Walters RK, Westlye LT, Whelan CD, Winkler AM, Zwiers MP, Alhusaini S, Athanasiu L, Ehrlich S, Hakobjan MM, Hartberg CB, Haukvik UK, Heister AJ, Hoehn D, Kasperaviciute D, Liewald DC, Lopez LM, Makkinje RR, Matarin M, Naber MA, McKay DR, Needham M, Nugent AC, Pütz B, Royle NA, Shen L, Sprooten E, Trabzuni D, van der Marel SS, van Hulzen KJ, Walton E, Wolf C, Almasy L, Ames D, Arepalli S, Assareh AA, Bastin ME, Brodaty H, Bulayeva KB, Carless MA, Cichon S, Corvin A, Curran JE, Czisch M, de Zubicaray GI, Dillman A, Duggirala… See abstract for full author list ➔ Hibar DP, et al. Among authors: guelfi s. Nature. 2015 Apr 9;520(7546):224-9. doi: 10.1038/nature14101. Epub 2015 Jan 21. Nature. 2015. PMID: 25607358 Free PMC article.
Novel genetic loci associated with hippocampal volume.
Hibar DP, Adams HHH, Jahanshad N, Chauhan G, Stein JL, Hofer E, Renteria ME, Bis JC, Arias-Vasquez A, Ikram MK, Desrivières S, Vernooij MW, Abramovic L, Alhusaini S, Amin N, Andersson M, Arfanakis K, Aribisala BS, Armstrong NJ, Athanasiu L, Axelsson T, Beecham AH, Beiser A, Bernard M, Blanton SH, Bohlken MM, Boks MP, Bralten J, Brickman AM, Carmichael O, Chakravarty MM, Chen Q, Ching CRK, Chouraki V, Cuellar-Partida G, Crivello F, Den Braber A, Doan NT, Ehrlich S, Giddaluru S, Goldman AL, Gottesman RF, Grimm O, Griswold ME, Guadalupe T, Gutman BA, Hass J, Haukvik UK, Hoehn D, Holmes AJ, Hoogman M, Janowitz D, Jia T, Jørgensen KN, Karbalai N, Kasperaviciute D, Kim S, Klein M, Kraemer B, Lee PH, Liewald DCM, Lopez LM, Luciano M, Macare C, Marquand AF, Matarin M, Mather KA, Mattheisen M, McKay DR, Milaneschi Y, Muñoz Maniega S, Nho K, Nugent AC, Nyquist P, Loohuis LMO, Oosterlaan J, Papmeyer M, Pirpamer L, Pütz B, Ramasamy A, Richards JS, Risacher SL, Roiz-Santiañez R, Rommelse N, Ropele S, Rose EJ, Royle NA, Rundek T, Sämann PG, Saremi A, Satizabal CL, Schmaal L, Schork AJ, Shen L, Shin J, Shumskaya E, Smith AV, Sprooten E, Strike LT, Teumer A, Tordesillas-Gutierrez D, Toro R, Trabz… See abstract for full author list ➔ Hibar DP, et al. Among authors: guelfi s. Nat Commun. 2017 Jan 18;8:13624. doi: 10.1038/ncomms13624. Nat Commun. 2017. PMID: 28098162 Free PMC article.
Splicing accuracy varies across human introns, tissues and age.
García-Ruiz S, Zhang D, Gustavsson EK, Rocamora-Perez G, Grant-Peters M, Fairbrother-Browne A, Reynolds RH, Brenton JW, Gil-Martínez AL, Chen Z, Rio DC, Botia JA, Guelfi S, Collado-Torres L, Ryten M. García-Ruiz S, et al. Among authors: guelfi s. bioRxiv [Preprint]. 2023 Mar 30:2023.03.29.534370. doi: 10.1101/2023.03.29.534370. bioRxiv. 2023. PMID: 37034741 Free PMC article. Preprint.
Physiology of PNS axons relies on glycolytic metabolism in myelinating Schwann cells.
Deck M, Van Hameren G, Campbell G, Bernard-Marissal N, Devaux J, Berthelot J, Lattard A, Médard JJ, Gautier B, Guelfi S, Abbou S, Quintana P, Chao de la Barca JM, Reynier P, Lenaers G, Chrast R, Tricaud N. Deck M, et al. Among authors: guelfi s. PLoS One. 2022 Oct 4;17(10):e0272097. doi: 10.1371/journal.pone.0272097. eCollection 2022. PLoS One. 2022. PMID: 36194565 Free PMC article.
35 results