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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1994 1
1995 1
1996 5
1997 2
1998 3
1999 2
2000 7
2001 1
2002 5
2003 5
2004 2
2005 6
2006 6
2007 4
2008 8
2009 2
2010 8
2011 9
2012 12
2013 17
2014 14
2015 16
2016 25
2017 24
2018 38
2019 37
2020 39
2021 43
2022 36
2023 29
2024 12

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359 results

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Page 1
Genotype-phenotype correlations in recessive titinopathies.
Savarese M, Vihola A, Oates EC, Barresi R, Fiorillo C, Tasca G, Jokela M, Sarkozy A, Luo S, Díaz-Manera J, Ehrstedt C, Rojas-García R, Sáenz A, Muelas N, Lonardo F, Fodstad H, Qureshi T, Johari M, Välipakka S, Luque H, Petiot P, de Munain AL, Pane M, Mercuri E, Torella A, Nigro V, Astrea G, Santorelli FM, Bruno C, Kuntzer T, Illa I, Vílchez JJ, Julien C, Ferreiro A, Malandrini A, Zhao CB, Casar-Borota O, Davis M, Muntoni F, Hackman P, Udd B. Savarese M, et al. Among authors: fiorillo c. Genet Med. 2020 Dec;22(12):2029-2040. doi: 10.1038/s41436-020-0914-2. Epub 2020 Aug 11. Genet Med. 2020. PMID: 32778822 Free article.
NGS in Hereditary Ataxia: When Rare Becomes Frequent.
Galatolo D, De Michele G, Silvestri G, Leuzzi V, Casali C, Musumeci O, Antenora A, Astrea G, Barghigiani M, Battini R, Battisti C, Caputi C, Cioffi E, De Michele G, Dotti MT, Fico T, Fiorillo C, Galosi S, Lieto M, Malandrini A, Melone MAB, Mignarri A, Natale G, Pegoraro E, Petrucci A, Ricca I, Riso V, Rossi S, Rubegni A, Scarlatti A, Tinelli F, Trovato R, Tedeschi G, Tessa A, Filla A, Santorelli FM. Galatolo D, et al. Among authors: fiorillo c. Int J Mol Sci. 2021 Aug 6;22(16):8490. doi: 10.3390/ijms22168490. Int J Mol Sci. 2021. PMID: 34445196 Free PMC article.
Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis.
Mohassel P, Donkervoort S, Lone MA, Nalls M, Gable K, Gupta SD, Foley AR, Hu Y, Saute JAM, Moreira AL, Kok F, Introna A, Logroscino G, Grunseich C, Nickolls AR, Pourshafie N, Neuhaus SB, Saade D, Gangfuß A, Kölbel H, Piccus Z, Le Pichon CE, Fiorillo C, Ly CV, Töpf A, Brady L, Specht S, Zidell A, Pedro H, Mittelmann E, Thomas FP, Chao KR, Konersman CG, Cho MT, Brandt T, Straub V, Connolly AM, Schara U, Roos A, Tarnopolsky M, Höke A, Brown RH, Lee CH, Hornemann T, Dunn TM, Bönnemann CG. Mohassel P, et al. Among authors: fiorillo c. Nat Med. 2021 Jul;27(7):1197-1204. doi: 10.1038/s41591-021-01346-1. Epub 2021 May 31. Nat Med. 2021. PMID: 34059824 Free PMC article.
Thyroid-stimulating hormone receptor signaling restores skeletal muscle stem cell regeneration in rats with muscular dystrophy.
Taglietti V, Kefi K, Rivera L, Bergiers O, Cardone N, Coulpier F, Gioftsidi S, Drayton-Libotte B, Hou C, Authier FJ, Pietri-Rouxel F, Robert M, Bremond-Gignac D, Bruno C, Fiorillo C, Malfatti E, Lafuste P, Tiret L, Relaix F. Taglietti V, et al. Among authors: fiorillo c. Sci Transl Med. 2023 Mar;15(685):eadd5275. doi: 10.1126/scitranslmed.add5275. Epub 2023 Mar 1. Sci Transl Med. 2023. PMID: 36857434
SIRT1 and thrombosis.
Bettiol A, Urban ML, Emmi G, Galora S, Argento FR, Fini E, Borghi S, Bagni G, Mattioli I, Prisco D, Fiorillo C, Becatti M. Bettiol A, et al. Among authors: fiorillo c. Front Mol Biosci. 2024 Jan 18;10:1325002. doi: 10.3389/fmolb.2023.1325002. eCollection 2023. Front Mol Biosci. 2024. PMID: 38304233 Free PMC article. Review.
Editorial: Myopathology of inherited myopathies.
Fiorillo C, Malfatti E, Meola G. Fiorillo C, et al. Front Neurol. 2022 Aug 17;13:1004562. doi: 10.3389/fneur.2022.1004562. eCollection 2022. Front Neurol. 2022. PMID: 36062011 Free PMC article. No abstract available.
Erythrocyte oxidative stress and thrombosis.
Bettiol A, Galora S, Argento FR, Fini E, Emmi G, Mattioli I, Bagni G, Fiorillo C, Becatti M. Bettiol A, et al. Among authors: fiorillo c. Expert Rev Mol Med. 2022 Aug 26;24:e31. doi: 10.1017/erm.2022.25. Expert Rev Mol Med. 2022. PMID: 36017709 Free PMC article. Review.
Low-Calorie Vegetarian Versus Mediterranean Diets for Reducing Body Weight and Improving Cardiovascular Risk Profile: CARDIVEG Study (Cardiovascular Prevention With Vegetarian Diet).
Sofi F, Dinu M, Pagliai G, Cesari F, Gori AM, Sereni A, Becatti M, Fiorillo C, Marcucci R, Casini A. Sofi F, et al. Among authors: fiorillo c. Circulation. 2018 Mar 13;137(11):1103-1113. doi: 10.1161/CIRCULATIONAHA.117.030088. Epub 2018 Feb 26. Circulation. 2018. PMID: 29483085 Clinical Trial.
Vascular Behçet's syndrome: an update.
Emmi G, Bettiol A, Silvestri E, Di Scala G, Becatti M, Fiorillo C, Prisco D. Emmi G, et al. Among authors: fiorillo c. Intern Emerg Med. 2019 Aug;14(5):645-652. doi: 10.1007/s11739-018-1991-y. Epub 2018 Nov 29. Intern Emerg Med. 2019. PMID: 30499073 Review.
Myopathologic trajectory in Duchenne muscular dystrophy (DMD) reveals lack of regeneration due to senescence in satellite cells.
Cardone N, Taglietti V, Baratto S, Kefi K, Periou B, Gitiaux C, Barnerias C, Lafuste P, Pharm FL, Pharm JN, Panicucci C, Desguerre I, Bruno C, Authier FJ, Fiorillo C, Relaix F, Malfatti E. Cardone N, et al. Among authors: fiorillo c. Acta Neuropathol Commun. 2023 Oct 19;11(1):167. doi: 10.1186/s40478-023-01657-z. Acta Neuropathol Commun. 2023. PMID: 37858263 Free PMC article.
359 results