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A novel in-frame deletion in MYOT causes an early adult onset distal myopathy.
Guglielmi V, Pancheri E, Cannone E, Nigro V, Malatesta M, Vettori A, Giorgetti A, Torella A, Aurino S, Cisterna B, Marchetto G, Tomelleri G, Tonin P, Schiavone M, Vattemi G. Guglielmi V, et al. Among authors: giorgetti a. Clin Genet. 2023 Dec;104(6):705-710. doi: 10.1111/cge.14413. Epub 2023 Aug 8. Clin Genet. 2023. PMID: 37553249
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias.
Cunha P, Petit E, Coutelier M, Coarelli G, Mariotti C, Faber J, Van Gaalen J, Damasio J, Fleszar Z, Tosi M, Rocca C, De Michele G, Minnerop M, Ewenczyk C, Santorelli FM, Heinzmann A, Bird T, Amprosi M, Indelicato E, Benussi A, Charles P, Stendel C, Romano S, Scarlato M, Le Ber I, Bassi MT, Serrano M, Schmitz-Hübsch T, Doss S, Van Velzen GAJ, Thomas Q, Trabacca A, Ortigoza-Escobar JD, D'Arrigo S, Timmann D, Pantaleoni C, Martinuzzi A, Besse-Pinot E, Marsili L, Cioffi E, Nicita F, Giorgetti A, Moroni I, Romaniello R, Casali C, Ponger P, Casari G, De Bot ST, Ristori G, Blumkin L, Borroni B, Goizet C, Marelli C, Boesch S, Anheim M, Filla A, Houlden H, Bertini E, Klopstock T, Synofzik M, Riant F, Zanni G, Magri S, Di Bella D, Nanetti L, Sequeiros J, Oliveira J, Van de Warrenburg B, Schöls L, Taroni F, Brice A, Durr A. Cunha P, et al. Among authors: giorgetti a. Am J Hum Genet. 2023 Jul 6;110(7):1098-1109. doi: 10.1016/j.ajhg.2023.05.009. Epub 2023 Jun 9. Am J Hum Genet. 2023. PMID: 37301203 Free PMC article.
pyGOMoDo: GPCRs modeling and docking with python.
Ribeiro RP, Giorgetti A. Ribeiro RP, et al. Among authors: giorgetti a. Bioinformatics. 2023 May 4;39(5):btad294. doi: 10.1093/bioinformatics/btad294. Bioinformatics. 2023. PMID: 37137232 Free PMC article.
360 results