Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Results by year

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

Year Number of Results
1994 1
1995 1
1996 5
1997 2
1998 3
1999 2
2000 7
2001 1
2002 5
2003 5
2004 2
2005 6
2006 6
2007 4
2008 8
2009 2
2010 8
2011 9
2012 12
2013 17
2014 14
2015 16
2016 25
2017 25
2018 38
2019 38
2020 39
2021 45
2022 38
2023 32
2024 33
2025 31

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

416 results

Results by year

Filters applied: . Clear all
Page 1
Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy.
Finkel RS, Mercuri E, Darras BT, Connolly AM, Kuntz NL, Kirschner J, Chiriboga CA, Saito K, Servais L, Tizzano E, Topaloglu H, Tulinius M, Montes J, Glanzman AM, Bishop K, Zhong ZJ, Gheuens S, Bennett CF, Schneider E, Farwell W, De Vivo DC; ENDEAR Study Group. Finkel RS, et al. N Engl J Med. 2017 Nov 2;377(18):1723-1732. doi: 10.1056/NEJMoa1702752. N Engl J Med. 2017. PMID: 29091570 Free article. Clinical Trial.
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: fiorillo c. 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: fiorillo c. 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.
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.
Salpietro V, Dixon CL, Guo H, Bello OD, Vandrovcova J, Efthymiou S, Maroofian R, Heimer G, Burglen L, Valence S, Torti E, Hacke M, Rankin J, Tariq H, Colin E, Procaccio V, Striano P, Mankad K, Lieb A, Chen S, Pisani L, Bettencourt C, Männikkö R, Manole A, Brusco A, Grosso E, Ferrero GB, Armstrong-Moron J, Gueden S, Bar-Yosef O, Tzadok M, Monaghan KG, Santiago-Sim T, Person RE, Cho MT, Willaert R, Yoo Y, Chae JH, Quan Y, Wu H, Wang T, Bernier RA, Xia K, Blesson A, Jain M, Motazacker MM, Jaeger B, Schneider AL, Boysen K, Muir AM, Myers CT, Gavrilova RH, Gunderson L, Schultz-Rogers L, Klee EW, Dyment D, Osmond M, Parellada M, Llorente C, Gonzalez-Peñas J, Carracedo A, Van Haeringen A, Ruivenkamp C, Nava C, Heron D, Nardello R, Iacomino M, Minetti C, Skabar A, Fabretto A; SYNAPS Study Group; Raspall-Chaure M, Chez M, Tsai A, Fassi E, Shinawi M, Constantino JN, De Zorzi R, Fortuna S, Kok F, Keren B, Bonneau D, Choi M, Benzeev B, Zara F, Mefford HC, Scheffer IE, Clayton-Smith J, Macaya A, Rothman JE, Eichler EE, Kullmann DM, Houlden H. Salpietro V, et al. Nat Commun. 2019 Jul 12;10(1):3094. doi: 10.1038/s41467-019-10910-w. Nat Commun. 2019. PMID: 31300657 Free PMC article.
REDISCOVER International Guidelines on the Perioperative Care of Surgical Patients With Borderline-resectable and Locally Advanced Pancreatic Cancer.
Boggi U, Kauffmann E, Napoli N, Barreto SG, Besselink MG, Fusai GK, Hackert T, Abu Hilal M, Marchegiani G, Salvia R, Shrikhande SV, Truty M, Werner J, Wolfgang CL, Bannone E, Capretti G, Cattelani A, Coppola A, Cucchetti A, De Sio D, Di Dato A, Di Meo G, Fiorillo C, Gianfaldoni C, Ginesini M, Hidalgo Salinas C, Lai Q, Miccoli M, Montorsi R, Pagnanelli M, Poli A, Ricci C, Sucameli F, Tamburrino D, Viti V, Addeo PF, Alfieri S, Bachellier P, Baiocchi GL, Balzano G, Barbarello L, Brolese A, Busquets J, Butturini G, Caniglia F, Caputo D, Casadei R, Chunhua X, Colangelo E, Coratti A, Costa F, Crafa F, Dalla Valle R, De Carlis L, de Wilde RF, Del Chiaro M, Di Benedetto F, Di Sebastiano P, Dokmak S, Hogg M, Egorov VI, Ercolani G, Ettorre GM, Falconi M, Ferrari G, Ferrero A, Filauro M, Giardino A, Grazi GL, Gruttadauria S, Izbicki JR, Jovine E, Katz M, Keck T, Khatkov I, Kiguchi G, Kooby D, Lang H, Lombardo C, Malleo G, Massani M, Mazzaferro V, Memeo R, Miao Y, Mishima K, Molino C, Nagakawa Y, Nakamura M, Nardo B, Panaro F, Pasquali C, Perrone V, Rangelova E, Liu R, Romagnoli R, Romito R, Rosso E, Schulick R, Siriwardena A, Spampinato MG, Strobel O, Testini M, Troisi RI, Uzunoglo FG… See abstract for full author list ➔ Boggi U, et al. Among authors: fiorillo c. Ann Surg. 2024 Jul 1;280(1):56-65. doi: 10.1097/SLA.0000000000006248. Epub 2024 Feb 26. Ann Surg. 2024. PMID: 38407228 Free PMC article.
ESTRO ACROP guidelines for the delineation of lymph nodal areas in upper gastrointestinal malignancies.
Valentini V, Cellini F, Riddell A, Brunner TB, Roeder F, Giuliante F, Alfieri S, Manfredi R, Ardito F, Fiorillo C, Porziella V, Morganti AG, Haustermans K, Margaritora S, De Bari B, Matzinger O, Gkika E, Belka C, Allum W, Verheij M. Valentini V, et al. Among authors: fiorillo c. Radiother Oncol. 2021 Nov;164:92-97. doi: 10.1016/j.radonc.2021.08.026. Epub 2021 Sep 20. Radiother Oncol. 2021. PMID: 34547352 Free article.
SIRT1 and thrombosis.
Bettiol A, Urban ML, Emmi G, Galora S, Argento FR, Fini E, Borghi S, Bagni G, Mattioli I, Prisco D, Fiorillo C, Becatti M. Bettiol A, et al. Among authors: fiorillo c. Front Mol Biosci. 2024 Jan 18;10:1325002. doi: 10.3389/fmolb.2023.1325002. eCollection 2023. Front Mol Biosci. 2024. PMID: 38304233 Free PMC article. Review.
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: fiorillo c. 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.
416 results