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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 10
2018 7
2019 4
2020 5
2021 3
2022 3
2023 5
2024 5
2025 3

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231 results

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Page 1
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.
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.
CCDC78: Unveiling the Function of a Novel Gene Associated with Hereditary Myopathy.
Lopergolo D, Gallus GN, Pieraccini G, Boscaro F, Berti G, Serni G, Volpi N, Formichi P, Bianchi S, Cassandrini D, Sorrentino V, Rossi D, Santorelli FM, De Stefano N, Malandrini A. Lopergolo D, et al. Among authors: malandrini a. Cells. 2024 Sep 8;13(17):1504. doi: 10.3390/cells13171504. Cells. 2024. PMID: 39273074 Free PMC article.
Spinocerebellar ataxia 27B: a frequent and slowly progressive autosomal-dominant cerebellar ataxia-experience from an Italian cohort.
Satolli S, Rossi S, Vegezzi E, Pellerin D, Manca ML, Barghigiani M, Battisti C, Bilancieri G, Bruno G, Capacci E, Casali C, Ceravolo R, Cocozza S, Cotti Piccinelli S, Criscuolo C, Danzi MC, De Micco R, De Michele G, Dicaire MJ, Falcone GMI, Fancellu R, Ferchichi Y, Ferrari C, Filla A, Fini N, Govoni A, Lo Vecchio F, Malandrini A, Mignarri A, Musumeci O, Nesti C, Pappatà S, Pellecchia MT, Perna A, Petrucci A, Pomponi MG, Ravenni R, Ricca I, Rufa A, Tabolacci E, Tessa A, Tessitore A, Zuchner S, Silvestri G, Cortese A, Brais B, Santorelli FM. Satolli S, et al. Among authors: malandrini a. J Neurol. 2024 Aug;271(8):5478-5488. doi: 10.1007/s00415-024-12506-x. Epub 2024 Jun 17. J Neurol. 2024. PMID: 38886208
Efficacy of Momelotinib in Myelofibrosis Patients: Results From a Multicenter Study.
Martorelli MC, Pugliese N, Di Perna M, De Novellis D, Lombardi A, De Fazio L, Loglisci G, Peluso I, Molica M, Copia C, Ricco A, Bruzzese A, Mendicino F, De Fazio V, Santeramo TM, Bianco R, Monaco G, Fontana R, Guariglia R, Serio B, Luponio S, Della Corte AM, Malandrini A, Giudice V, Frigeri F, Tarantini G, Guarini A, Gentile M, Musto P, Annunziata M, Di Renzo N, Rossi M, Califano C, Pane F, Selleri C. Martorelli MC, et al. Among authors: malandrini a. Eur J Haematol. 2025 Sep 16. doi: 10.1111/ejh.70034. Online ahead of print. Eur J Haematol. 2025. PMID: 40955124
Correction to: Spinocerebellar ataxia 27B: a frequent and slowly progressive autosomal-dominant cerebellar ataxia-experience from an Italian cohort.
Satolli S, Rossi S, Vegezzi E, Pellerin D, Manca ML, Barghigiani M, Battisti C, Bilancieri G, Bruno G, Capacci E, Casali C, Ceravolo R, Cocozza S, Cotti Piccinelli S, Criscuolo C, Danzi MC, De Micco R, De Michele G, Dicaire MJ, Falcone GMI, Fancellu R, Ferchichi Y, Ferrari C, Filla A, Fini N, Govoni A, Lo Vecchio F, Malandrini A, Mignarri A, Musumeci O, Nesti C, Pappatà S, Pellecchia MT, Perna A, Petrucci A, Pomponi MG, Ravenni R, Ricca I, Rufa A, Tabolacci E, Tessa A, Tessitore A, Zuchner S, Silvestri G, Cortese A, Brais B, Santorelli FM. Satolli S, et al. Among authors: malandrini a. J Neurol. 2024 Dec;271(12):7650-7651. doi: 10.1007/s00415-024-12629-1. J Neurol. 2024. PMID: 39499281 No abstract available.
Clinical, Histopathologic, and Genetic Features of Patients With Myofibrillary and Distal Myopathies: Experience From the Italian Network.
Bortolani S, Savarese M, Vattemi G, Bonanno S, Falzone YM, Pugliese A, Primiano G, Sancricca C, Lopergolo D, Greco G, Gemelli C, Ravaglia S, Bencivenga RP, Velardo D, Magri F, Valentino ML, Cheli M, Torchia E, Lucchini M, Petrucci A, Ricci G, Garibaldi M, Astrea G, Rubegni A, Angelini CI, Ariatti A, Santorelli FM, Ruggieri A, Antonini G, Siciliano G, Filosto M, Mirabella M, Liguori R, Comi GP, Ruggiero L, Grandis M, Massa R, Malandrini A, Servidei S, Mongini TE, Rodolico C, Toscano A, Previtali SC, Tonin P, Diaz-Manera J, Monforte M, Ricci E, Maggi L, Tasca G. Bortolani S, et al. Among authors: malandrini a. Neurology. 2024 Aug 27;103(4):e209697. doi: 10.1212/WNL.0000000000209697. Epub 2024 Aug 5. Neurology. 2024. PMID: 39102614
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
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
231 results