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

Year Number of Results
2002 2
2003 2
2004 1
2006 1
2007 1
2008 1
2009 6
2010 2
2011 9
2012 5
2013 9
2014 9
2015 13
2016 9
2017 7
2018 13
2019 15
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2025 34
2026 9

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223 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: santorelli fm. 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: santorelli fm. Int J Mol Sci. 2021 Aug 6;22(16):8490. doi: 10.3390/ijms22168490. Int J Mol Sci. 2021. PMID: 34445196 Free PMC article.
EDITORIAL.
Siciliano G, Santorelli FM, Battini R. Siciliano G, et al. Among authors: santorelli fm. Acta Myol. 2016 Dec;35(3):121. Acta Myol. 2016. PMID: 28484311 Free PMC article. No abstract available.
Pseudodominance in RFC1-Spectrum Disorder.
Falcone GMI, Tessa A, Arena IG, Barghigiani M, Migliorato A, Incensi A, Rodolico C, Donadio V, Santorelli FM, Musumeci O. Falcone GMI, et al. Among authors: santorelli fm. Cerebellum. 2024 Dec;23(6):2622-2628. doi: 10.1007/s12311-024-01735-5. Epub 2024 Sep 4. Cerebellum. 2024. PMID: 39230846
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease.
Currò R, Dominik N, Facchini S, Vegezzi E, Sullivan R, Galassi Deforie V, Fernández-Eulate G, Traschütz A, Rossi S, Garibaldi M, Kwarciany M, Taroni F, Brusco A, Good JM, Cavalcanti F, Hammans S, Ravenscroft G, Roxburgh RH; RFC1 repeat expansion study group; Parolin Schnekenberg R, Rugginini B, Abati E, Manini A, Quartesan I, Ghia A, Lòpez de Munaìn A, Manganelli F, Kennerson M, Santorelli FM, Infante J, Marques W, Jokela M, Murphy SM, Mandich P, Fabrizi GM, Briani C, Gosal D, Pareyson D, Ferrari A, Prados F, Yousry T, Khurana V, Kuo SH, Miller J, Troakes C, Jaunmuktane Z, Giunti P, Hartmann A, Basak N, Synofzik M, Stojkovic T, Hadjivassiliou M, Reilly MM, Houlden H, Cortese A. Currò R, et al. Among authors: santorelli fm. Brain. 2024 May 3;147(5):1887-1898. doi: 10.1093/brain/awad436. Brain. 2024. PMID: 38193360 Free PMC article.
Mitochondrial Dysfunction in Genetic and Non-Genetic Parkinson's Disease.
Lucchesi M, Biso L, Bonaso M, Longoni B, Buchignani B, Battini R, Santorelli FM, Doccini S, Scarselli M. Lucchesi M, et al. Among authors: santorelli fm. Int J Mol Sci. 2025 May 7;26(9):4451. doi: 10.3390/ijms26094451. Int J Mol Sci. 2025. PMID: 40362688 Free PMC article. Review.
Primary Coenzyme Q10 Deficiency-Related Ataxias.
Lopriore P, Vista M, Tessa A, Giuntini M, Caldarazzo Ienco E, Mancuso M, Siciliano G, Santorelli FM, Orsucci D. Lopriore P, et al. Among authors: santorelli fm. J Clin Med. 2024 Apr 19;13(8):2391. doi: 10.3390/jcm13082391. J Clin Med. 2024. PMID: 38673663 Free PMC article. Review.
223 results