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

Year Number of Results
1958 1
1960 1
1962 1
1966 1
1967 4
1968 2
1973 1
1983 2
1986 4
1988 4
1989 2
1990 3
1991 1
1992 4
1993 2
1994 2
1995 4
1996 6
1997 5
1998 4
1999 5
2000 2
2001 5
2002 3
2003 5
2004 4
2005 4
2006 5
2007 4
2008 8
2009 11
2010 14
2011 9
2012 19
2013 18
2014 20
2015 11
2016 8
2017 17
2018 14
2019 10
2020 17
2021 30
2022 17
2023 15
2024 14
2025 13

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329 results

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Page 1
Duchenne Muscular Dystrophy: From Diagnosis to Therapy.
Falzarano MS, Scotton C, Passarelli C, Ferlini A. Falzarano MS, et al. Among authors: ferlini a. Molecules. 2015 Oct 7;20(10):18168-84. doi: 10.3390/molecules201018168. Molecules. 2015. PMID: 26457695 Free PMC article. Review.
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology.
van Rheenen W, van der Spek RAA, Bakker MK, van Vugt JJFA, Hop PJ, Zwamborn RAJ, de Klein N, Westra HJ, Bakker OB, Deelen P, Shireby G, Hannon E, Moisse M, Baird D, Restuadi R, Dolzhenko E, Dekker AM, Gawor K, Westeneng HJ, Tazelaar GHP, van Eijk KR, Kooyman M, Byrne RP, Doherty M, Heverin M, Al Khleifat A, Iacoangeli A, Shatunov A, Ticozzi N, Cooper-Knock J, Smith BN, Gromicho M, Chandran S, Pal S, Morrison KE, Shaw PJ, Hardy J, Orrell RW, Sendtner M, Meyer T, Başak N, van der Kooi AJ, Ratti A, Fogh I, Gellera C, Lauria G, Corti S, Cereda C, Sproviero D, D'Alfonso S, Sorarù G, Siciliano G, Filosto M, Padovani A, Chiò A, Calvo A, Moglia C, Brunetti M, Canosa A, Grassano M, Beghi E, Pupillo E, Logroscino G, Nefussy B, Osmanovic A, Nordin A, Lerner Y, Zabari M, Gotkine M, Baloh RH, Bell S, Vourc'h P, Corcia P, Couratier P, Millecamps S, Meininger V, Salachas F, Mora Pardina JS, Assialioui A, Rojas-García R, Dion PA, Ross JP, Ludolph AC, Weishaupt JH, Brenner D, Freischmidt A, Bensimon G, Brice A, Durr A, Payan CAM, Saker-Delye S, Wood NW, Topp S, Rademakers R, Tittmann L, Lieb W, Franke A, Ripke S, Braun A, Kraft J, Whiteman DC, Olsen CM, Uitterlinden AG, Hofman A, Rietschel M, Cich… See abstract for full author list ➔ van Rheenen W, et al. Nat Genet. 2021 Dec;53(12):1636-1648. doi: 10.1038/s41588-021-00973-1. Epub 2021 Dec 6. Nat Genet. 2021. PMID: 34873335 Free PMC article.
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: ferlini a. Eur J Pediatr. 2024 Dec 16;184(1):86. doi: 10.1007/s00431-024-05903-x. Eur J Pediatr. 2024. PMID: 39680193
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
Denommé-Pichon AS, Matalonga L, de Boer E, Jackson A, Benetti E, Banka S, Bruel AL, Ciolfi A, Clayton-Smith J, Dallapiccola B, Duffourd Y, Ellwanger K, Fallerini C, Gilissen C, Graessner H, Haack TB, Havlovicova M, Hoischen A, Jean-Marçais N, Kleefstra T, López-Martín E, Macek M, Mencarelli MA, Moutton S, Pfundt R, Pizzi S, Posada M, Radio FC, Renieri A, Rooryck C, Ryba L, Safraou H, Schwarz M, Tartaglia M, Thauvin-Robinet C, Thevenon J, Tran Mau-Them F, Trimouille A, Votypka P, de Vries BBA, Willemsen MH, Zurek B, Verloes A, Philippe C; Solve-RD DITF-ITHACA; Solve-RD SNV-indel Working Group; Solve-RD Consortia; Orphanomix Group; Vitobello A, Vissers LELM, Faivre L. Denommé-Pichon AS, et al. Genet Med. 2023 Apr;25(4):100018. doi: 10.1016/j.gim.2023.100018. Epub 2023 Jan 20. Genet Med. 2023. PMID: 36681873 Free article.
Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing.
Steyaert W, Sagath L, Demidov G, Yépez VA, Esteve-Codina A, Gagneur J, Ellwanger K, Derks R, Weiss M, den Ouden A, van den Heuvel S, Swinkels H, Zomer N, Steehouwer M, O'Gorman L, Astuti G, Neveling K, Schüle R, Xu J, Synofzik M, Beijer D, Hengel H, Schöls L, Claeys KG, Baets J, Van de Vondel L, Ferlini A, Selvatici R, Morsy H, Saeed Abd Elmaksoud M, Straub V, Müller J, Pini V, Perry L, Sarkozy A, Zaharieva I, Muntoni F, Bugiardini E, Polavarapu K, Horvath R, Reid E, Lochmüller H, Spinazzi M, Savarese M; Solve-RD DITF-ITHACA, Solve-RD DITF-Euro-NMD, Solve-RD DITF-RND, Solve-RD DITF-EpiCARE; Matalonga L, Laurie S, Brunner HG, Graessner H, Beltran S, Ossowski S, Vissers LELM, Gilissen C, Hoischen A; Solve-RD consortium. Steyaert W, et al. Among authors: ferlini a. Genome Res. 2025 Apr 14;35(4):755-768. doi: 10.1101/gr.279414.124. Genome Res. 2025. PMID: 40138663 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: ferlini a. Brain. 2025 May 13;148(5):1695-1706. doi: 10.1093/brain/awae358. Brain. 2025. PMID: 39499670
Data-driven consideration of genetic disorders for global genomic newborn screening programs.
Minten T, Bick S, Adelson S, Gehlenborg N, Amendola LM, Boemer F, Coffey AJ, Encina N, Ferlini A, Kirschner J, Russell BE, Servais L, Sund KL, Taft RJ, Tsipouras P, Zouk H; ICoNS Gene List Contributors; Bick D; International Consortium on Newborn Sequencing (ICoNS); Green RC, Gold NB. Minten T, et al. Among authors: ferlini a. medRxiv [Preprint]. 2025 Mar 25:2024.03.24.24304797. doi: 10.1101/2024.03.24.24304797. medRxiv. 2025. Update in: Genet Med. 2025 Jul;27(7):101443. doi: 10.1016/j.gim.2025.101443. PMID: 38585998 Free PMC article. Updated. Preprint.
329 results