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

Year Number of Results
1950 2
1954 1
1955 2
1956 1
1961 2
1963 5
1964 3
1965 3
1966 3
1967 2
1968 1
1969 1
1970 1
1973 2
1974 1
1975 3
1976 2
1977 1
1978 2
1979 1
1983 1
1986 3
1987 2
1988 2
1989 1
1990 4
1991 3
1992 4
1993 4
1994 4
1995 3
1996 5
1997 7
1998 3
1999 2
2000 1
2001 5
2002 4
2003 6
2004 5
2005 3
2006 5
2007 8
2008 8
2009 11
2010 12
2011 13
2012 19
2013 21
2014 19
2015 20
2016 24
2017 16
2018 24
2019 23
2020 30
2021 32
2022 30
2023 29
2024 30
2025 26

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458 results

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Page 1
Marfan Syndrome: Enhanced Diagnostic Tools and Follow-up Management Strategies.
Marelli S, Micaglio E, Taurino J, Salvi P, Rurali E, Perrucci GL, Dolci C, Udugampolage NS, Caruso R, Gentilini D, Trifiro' G, Callus E, Frigiola A, De Vincentiis C, Pappone C, Parati G, Pini A. Marelli S, et al. Among authors: pini a. Diagnostics (Basel). 2023 Jul 5;13(13):2284. doi: 10.3390/diagnostics13132284. Diagnostics (Basel). 2023. PMID: 37443678 Free PMC article. Review.
Prevalence of Duchenne muscular dystrophy in Italy: a nationwide survey.
Capasso A, Cicala G, Ricci M, Pane M, D'Amico A, Bruno C, Sansone VA, Messina S, Bello L, Pegoraro E, D'Angelo MG, Masson R, Berardinelli A, Pini A, Ricci F, Mongini TE, Coccia M, Nigro V, Trabacca A, Filosto M, Comi G, Magri F, Barp A, Battini R, Previtali SC, Valentino ML, Diella E, Dosi C, Ruggiero L, Siciliano G, Ricci G, Catteruccia M, Arpaia C, Coratti G, Norcia G, Bonanno S, Verriello L, Agosto C, Varone A, Ferlini A, Maioli MA, Brogna C, Siliquini S, Bruno I, Panicucci C, Allegra C, Albamonte E, Mercuri E; Italian DMD group. Capasso A, et al. Among authors: pini a. Eur J Pediatr. 2024 Dec 16;184(1):86. doi: 10.1007/s00431-024-05903-x. Eur J Pediatr. 2024. PMID: 39680193
Long-term natural history in type II and III spinal muscular atrophy: a 4-year international study on the Hammersmith Functional Motor Scale Expanded.
Coratti G, Bovis F, Pera MC, Civitello M, Rohwer A, Salmin F, Glanzman AM, Montes J, Pasternak A, De Sanctis R, Dunaway Young S, Duong T, Mizzoni I, Milev E, Sframeli M, Morando S, Albamonte E, D'Amico A, Catteruccia M, Brolatti N, Pane M, Scoto M, Messina S, Escudero JE, De Waele L, Hirano M, Zolkipli-Cunningham Z, Darras BT, Bertini E, Nascimiento Osorio A, Bruno C, Goemans N, Sansone VA, Day J, Baranello G, Muntoni F, Finkel R, Mercuri E; ISMAC/international SMA consortium. Coratti G, et al. Eur J Neurol. 2024 Dec;31(12):e16517. doi: 10.1111/ene.16517. Epub 2024 Oct 11. Eur J Neurol. 2024. PMID: 39392101 Free PMC article.
Add-On Effect of Selenium and Vitamin D Combined Supplementation in Early Control of Graves' Disease Hyperthyroidism During Methimazole Treatment.
Gallo D, Mortara L, Veronesi G, Cattaneo SA, Genoni A, Gallazzi M, Peruzzo C, Lasalvia P, Moretto P, Bruno A, Passi A, Pini A, Nauti A, Lavizzari MA, Marinò M, Lanzolla G, Tanda ML, Bartalena L, Piantanida E. Gallo D, et al. Among authors: pini a. Front Endocrinol (Lausanne). 2022 Jun 15;13:886451. doi: 10.3389/fendo.2022.886451. eCollection 2022. Front Endocrinol (Lausanne). 2022. PMID: 35784564 Free PMC article. Clinical Trial.
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation.
Nashabat M, Nabavizadeh N, Saraçoğlu HP, Sarıbaş B, Avcı Ş, Börklü E, Beillard E, Yılmaz E, Uygur SE, Kayhan CK, Bosco L, Eren ZB, Steindl K, Richter MF, Bademci G, Rauch A, Fattahi Z, Valentino ML, Connolly AM, Bahr A, Viola L, Bergmann AK, Rocha ME, Peart L, Castro-Rojas DL, Bültmann E, Khan S, Giarrana ML, Teleanu RI, Gonzalez JM, Pini A, Schädlich IS, Vill K, Brugger M, Zuchner S, Pinto A, Donkervoort S, Bivona SA, Riza A; Undiagnosed Diseases Network; Streata I, Gläser D, Baquero-Montoya C, Garcia-Restrepo N, Kotzaeridou U, Brunet T, Epure DA, Bertoli-Avella A, Kariminejad A, Tekin M, von Hardenberg S, Bönnemann CG, Stettner GM, Zanni G, Kayserili H, Oflazer ZP, Escande-Beillard N. Nashabat M, et al. Among authors: pini a. Nat Commun. 2024 Feb 27;15(1):1758. doi: 10.1038/s41467-024-45933-5. Nat Commun. 2024. PMID: 38413582 Free PMC article.
Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study.
Fusto A, Cassandrini D, Fiorillo C, Codemo V, Astrea G, D'Amico A, Maggi L, Magri F, Pane M, Tasca G, Sabbatini D, Bello L, Battini R, Bernasconi P, Fattori F, Bertini ES, Comi G, Messina S, Mongini T, Moroni I, Panicucci C, Berardinelli A, Donati A, Nigro V, Pini A, Giannotta M, Dosi C, Ricci E, Mercuri E, Minervini G, Tosatto S, Santorelli F, Bruno C, Pegoraro E. Fusto A, et al. Among authors: pini a. Acta Neuropathol Commun. 2022 Apr 15;10(1):54. doi: 10.1186/s40478-022-01357-0. Acta Neuropathol Commun. 2022. PMID: 35428369 Free PMC article.
Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review.
Vecchia SD, Tessa A, Dosi C, Baldacci J, Pasquariello R, Antenora A, Astrea G, Bassi MT, Battini R, Casali C, Cioffi E, Conti G, De Michele G, Ferrari AR, Filla A, Fiorillo C, Fusco C, Gallone S, Germiniasi C, Guerrini R, Haggiag S, Lopergolo D, Martinuzzi A, Melani F, Mignarri A, Panzeri E, Pini A, Pinto AM, Pochiero F, Primiano G, Procopio E, Renieri A, Romaniello R, Sancricca C, Servidei S, Spagnoli C, Ticci C, Rubegni A, Santorelli FM. Vecchia SD, et al. Among authors: pini a. J Neurol. 2022 Jan;269(1):437-450. doi: 10.1007/s00415-021-10792-3. Epub 2021 Sep 6. J Neurol. 2022. PMID: 34487232
DMD Genotypes and Motor Function in Duchenne Muscular Dystrophy: A Multi-institution Meta-analysis With Implications for Clinical Trials.
Muntoni F, Signorovitch J, Sajeev G, Lane H, Jenkins M, Dieye I, Ward SJ, McDonald C, Goemans N, Niks EH, Wong B, Servais L, Straub V, Guglieri M, de Groot IJM, Chesshyre M, Tian C, Manzur AY, Mercuri E, Aartsma-Rus A; Association Française Contre Les Myopathies; on behalf of Universitaire Ziekenhuizen Leuven Group, PRO-DMD-01, The UK NorthStar Clinical Network, CCHMC, and The DMD Italian Group. Muntoni F, et al. Neurology. 2023 Apr 11;100(15):e1540-e1554. doi: 10.1212/WNL.0000000000201626. Epub 2023 Feb 1. Neurology. 2023. PMID: 36725339 Free PMC article.
Natural history of Becker muscular dystrophy: DMD gene mutations predict clinical severity.
Gorgoglione D, Sabbatini D, Riguzzi P, Capece G, Pane M, Servidei S, Briganti M, Sancricca C, Bruschi F, Ardissone A, Masson R, Gallone A, Maggi L, Picillo E, Politano L, Petrosino A, Vianello S, Penzo M, Villa M, Sframeli M, Allegra C, Barp A, Di Bari A, Salmin F, Albamonte E, Colacicco G, Panicucci C, Traverso M, Palermo C, Lerario A, Velardo D, D'Angelo MG, Berardinelli A, Gardani A, Nicotra R, Parravicini S, Siciliano G, Ricci G, Torri F, Gadaleta G, Urbano G, Rolle E, Ricci F, D'Amico A, Catteruccia M, Pini A, Giannotta M, Battini R, Marinella G, Previtali SC, Zambon AA, Ferlini A, Fortunato F, Magri F, Mongini TE, Sansone VA, Bruno C, Messina S, Nigro V, Moroni I, Mercuri E, Bello L, Pegoraro E. Gorgoglione D, et al. Among authors: pini a. Brain. 2025 May 13;148(5):1695-1706. doi: 10.1093/brain/awae358. Brain. 2025. PMID: 39499670
458 results