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

Year Number of Results
1987 1
1988 3
1990 2
1991 3
1992 3
1993 7
1994 4
1995 6
1996 13
1997 15
1998 10
1999 7
2000 8
2001 8
2002 5
2003 6
2004 10
2005 7
2006 8
2007 7
2008 9
2009 11
2010 8
2011 9
2012 7
2013 8
2014 8
2015 8
2016 7
2017 9
2018 6
2019 4
2020 5
2021 3
2022 3
2023 5
2024 1

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222 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: malandrini a. 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: malandrini a. Int J Mol Sci. 2021 Aug 6;22(16):8490. doi: 10.3390/ijms22168490. Int J Mol Sci. 2021. PMID: 34445196 Free PMC article.
Traumatic Flap Complications After Femtosecond LASIK.
Leccisotti A, Fields SV, De Bartolo G, Malandrini A. Leccisotti A, et al. Among authors: malandrini a. Cornea. 2022 May 1;41(5):604-608. doi: 10.1097/ICO.0000000000002782. Cornea. 2022. PMID: 35383617
Using Cluster Analysis to Overcome the Limits of Traditional Phenotype-Genotype Correlations: The Example of RYR1-Related Myopathies.
Dosi C, Rubegni A, Baldacci J, Galatolo D, Doccini S, Astrea G, Berardinelli A, Bruno C, Bruno G, Comi GP, Donati MA, Dotti MT, Filosto M, Fiorillo C, Giannini F, Gigli GL, Grandis M, Lopergolo D, Magri F, Maioli MA, Malandrini A, Massa R, Matà S, Melani F, Messina S, Mignarri A, Moggio M, Pennisi EM, Pegoraro E, Ricci G, Sacchini M, Schenone A, Sampaolo S, Sciacco M, Siciliano G, Tasca G, Tonin P, Tupler R, Valente M, Volpi N, Cassandrini D, Santorelli FM. Dosi C, et al. Among authors: malandrini a. Genes (Basel). 2023 Jan 23;14(2):298. doi: 10.3390/genes14020298. Genes (Basel). 2023. PMID: 36833224 Free PMC article.
An "All-laser" Endothelial Transplant.
Rossi F, Canovetti A, Malandrini A, Lenzetti I, Pini R, Menabuoni L. Rossi F, et al. Among authors: malandrini a. J Vis Exp. 2015 Jul 6;(101):e52939. doi: 10.3791/52939. J Vis Exp. 2015. PMID: 26167711 Free PMC article.
Anvil-profiled penetrating keratoplasty: load resistance evaluation.
Canovetti A, Rossi F, Rossi M, Menabuoni L, Malandrini A, Pini R, Ferrara P. Canovetti A, et al. Among authors: malandrini a. Biomech Model Mechanobiol. 2019 Apr;18(2):319-325. doi: 10.1007/s10237-018-1083-y. Epub 2018 Oct 31. Biomech Model Mechanobiol. 2019. PMID: 30382505
Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experience.
Fortunato F, Bianchi F, Ricci G, Torri F, Gualandi F, Neri M, Farnè M, Giannini F, Malandrini A, Volpi N, Lopergolo D, Silani V, Ticozzi N, Verde F, Pareyson D, Fenu S, Bonanno S, Nigro V, Peduto C, D'Ambrosio P, Zeuli R, Zanobio M, Picillo E, Servidei S, Primiano G, Sancricca C, Sciacco M, Brusa R, Filosto M, Cotti Piccinelli S, Pegoraro E, Mongini T, Solero L, Gadaleta G, Brusa C, Minetti C, Bruno C, Panicucci C, Sansone VA, Lunetta C, Zanolini A, Toscano A, Pugliese A, Nicocia G, Bertini E, Catteruccia M, Diodato D, Atalaia A, Evangelista T, Siciliano G, Ferlini A. Fortunato F, et al. Among authors: malandrini a. Orphanet J Rare Dis. 2023 Jul 21;18(1):196. doi: 10.1186/s13023-023-02776-5. Orphanet J Rare Dis. 2023. PMID: 37480080 Free PMC article.
A case of spastic paraplegia type 11 mimicking a GM2-gangliosidosis.
Lopergolo D, Berti G, Mari F, Bertini E, Rufa A, Battisti C, Sicurelli F, Renieri A, Federico A, Sandhoff K, Malandrini A. Lopergolo D, et al. Among authors: malandrini a. Neurol Sci. 2022 Apr;43(4):2849-2852. doi: 10.1007/s10072-021-05841-8. Epub 2022 Jan 23. Neurol Sci. 2022. PMID: 35066644
Next-generation sequencing approach to hyperCKemia: A 2-year cohort study.
Rubegni A, Malandrini A, Dosi C, Astrea G, Baldacci J, Battisti C, Bertocci G, Donati MA, Dotti MT, Federico A, Giannini F, Grosso S, Guerrini R, Lenzi S, Maioli MA, Melani F, Mercuri E, Sacchini M, Salvatore S, Siciliano G, Tolomeo D, Tonin P, Volpi N, Santorelli FM, Cassandrini D. Rubegni A, et al. Among authors: malandrini a. Neurol Genet. 2019 Aug 16;5(5):e352. doi: 10.1212/NXG.0000000000000352. eCollection 2019 Oct. Neurol Genet. 2019. PMID: 31517061 Free PMC article.
222 results