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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
2020 18
2021 15
2022 8
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Search Results

127 results
Results by year
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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.
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.
Partial Lipodystrophy and LMNA p.R545H Variant.
Magno S, Ceccarini G, Barison A, Fabiani I, Giacomina A, Gilio D, Pelosini C, Rubegni A, Emdin M, Gatti GL, Santorelli FM, Sessa MR, Santini F. Magno S, et al. Among authors: santorelli fm. J Clin Med. 2021 Mar 9;10(5):1142. doi: 10.3390/jcm10051142. J Clin Med. 2021. PMID: 33803191 Free PMC article.
Oxytocin Receptor Gene Polymorphism in Lactating Dogs.
Ogi A, Naef V, Santorelli FM, Mariti C, Gazzano A. Ogi A, et al. Among authors: santorelli fm. Animals (Basel). 2021 Oct 29;11(11):3099. doi: 10.3390/ani11113099. Animals (Basel). 2021. PMID: 34827831 Free PMC 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.
Degenerative and acquired sporadic adult onset ataxia.
Lieto M, Roca A, Santorelli FM, Fico T, De Michele G, Bellofatto M, Saccà F, De Michele G, Filla A. Lieto M, et al. Among authors: santorelli fm. Neurol Sci. 2019 Jul;40(7):1335-1342. doi: 10.1007/s10072-019-03856-w. Epub 2019 Mar 29. Neurol Sci. 2019. PMID: 30927137 Review.
Neuroimaging patterns in paediatric onset hereditary spastic paraplegias.
Dosi C, Pasquariello R, Ticci C, Astrea G, Trovato R, Rubegni A, Tessa A, Cioni G, Santorelli FM, Battini R. Dosi C, et al. Among authors: santorelli fm. J Neurol Sci. 2021 Jun 15;425:117441. doi: 10.1016/j.jns.2021.117441. Epub 2021 Apr 10. J Neurol Sci. 2021. PMID: 33866115
SPG8 mutations in Italian families: clinical data and literature review.
Ginanneschi F, D'Amore A, Barghigiani M, Tessa A, Rossi A, Santorelli FM. Ginanneschi F, et al. Among authors: santorelli fm. Neurol Sci. 2020 Mar;41(3):699-703. doi: 10.1007/s10072-019-04180-z. Epub 2019 Dec 9. Neurol Sci. 2020. PMID: 31814071 Review.
127 results