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

Year Number of Results
1996 2
1997 1
1999 3
2000 1
2002 1
2004 1
2005 2
2007 3
2008 2
2009 1
2010 1
2011 5
2012 4
2013 1
2014 4
2015 5
2016 7
2017 10
2018 8
2019 11
2020 5
2021 11
2022 8
2023 15
2024 4

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101 results

Results by year

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Page 1
Clinical implementation of RNA sequencing for Mendelian disease diagnostics.
Yépez VA, Gusic M, Kopajtich R, Mertes C, Smith NH, Alston CL, Ban R, Beblo S, Berutti R, Blessing H, Ciara E, Distelmaier F, Freisinger P, Häberle J, Hayflick SJ, Hempel M, Itkis YS, Kishita Y, Klopstock T, Krylova TD, Lamperti C, Lenz D, Makowski C, Mosegaard S, Müller MF, Muñoz-Pujol G, Nadel A, Ohtake A, Okazaki Y, Procopio E, Schwarzmayr T, Smet J, Staufner C, Stenton SL, Strom TM, Terrile C, Tort F, Van Coster R, Vanlander A, Wagner M, Xu M, Fang F, Ghezzi D, Mayr JA, Piekutowska-Abramczuk D, Ribes A, Rötig A, Taylor RW, Wortmann SB, Murayama K, Meitinger T, Gagneur J, Prokisch H. Yépez VA, et al. Among authors: procopio e. Genome Med. 2022 Apr 5;14(1):38. doi: 10.1186/s13073-022-01019-9. Genome Med. 2022. PMID: 35379322 Free PMC article.
Neuroimaging Changes in Menkes Disease, Part 2.
Manara R, Rocco MC, D'agata L, Cusmai R, Freri E, Giordano L, Darra F, Procopio E, Toldo I, Peruzzi C, Vittorini R, Spalice A, Fusco C, Nosadini M, Longo D, Sartori S; Menkes Working Group in the Italian Neuroimaging Network for Rare Diseases. Manara R, et al. Among authors: procopio e. AJNR Am J Neuroradiol. 2017 Oct;38(10):1858-1865. doi: 10.3174/ajnr.A5192. Epub 2017 May 11. AJNR Am J Neuroradiol. 2017. PMID: 28495940 Free PMC article. Review.
Neuroimaging Changes in Menkes Disease, Part 1.
Manara R, D'Agata L, Rocco MC, Cusmai R, Freri E, Pinelli L, Darra F, Procopio E, Mardari R, Zanus C, Di Rosa G, Soddu C, Severino M, Ermani M, Longo D, Sartori S; Menkes Working Group in the Italian Neuroimaging Network for Rare Diseases. Manara R, et al. Among authors: procopio e. AJNR Am J Neuroradiol. 2017 Oct;38(10):1850-1857. doi: 10.3174/ajnr.A5186. Epub 2017 May 11. AJNR Am J Neuroradiol. 2017. PMID: 28495946 Free PMC article. Review.
SARS-CoV-2 infection in a patient with propionic acidemia.
Caciotti A, Procopio E, Pochiero F, Falliano S, Indolfi G, Donati MA, Ferri L, Guerrini R, Morrone A. Caciotti A, et al. Among authors: procopio e. Orphanet J Rare Dis. 2020 Oct 28;15(1):306. doi: 10.1186/s13023-020-01563-w. Orphanet J Rare Dis. 2020. PMID: 33115512 Free PMC article. Review.
Involvement of an IgE/Mast cell/B cell amplification loop in abdominal aortic aneurysm progression.
Loste A, Clément M, Delbosc S, Guedj K, Sénémaud J, Gaston AT, Morvan M, Even G, Gautier G, Eggel A, Arock M, Procopio E, Deschildre C, Louedec L, Michel JB, Deschamps L, Castier Y, Coscas R, Alsac JM, Launay P, Caligiuri G, Nicoletti A, Le Borgne M. Loste A, et al. Among authors: procopio e. PLoS One. 2023 Dec 6;18(12):e0295408. doi: 10.1371/journal.pone.0295408. eCollection 2023. PLoS One. 2023. PMID: 38055674 Free PMC article.
Morquio B disease: From pathophysiology towards diagnosis.
Caciotti A, Cellai L, Tonin R, Mei D, Procopio E, Di Rocco M, Andaloro A, Antuzzi D, Rampazzo A, Rigoldi M, Forni G, la Marca G, Guerrini R, Morrone A. Caciotti A, et al. Among authors: procopio e. Mol Genet Metab. 2021 Mar;132(3):180-188. doi: 10.1016/j.ymgme.2021.01.008. Epub 2021 Feb 1. Mol Genet Metab. 2021. PMID: 33558080
Clinical Phenotype of Pediatric and Adult Patients With Spinal Muscular Atrophy With Four SMN2 Copies: Are They Really All Stable?
Ricci M, Cicala G, Capasso A, Coratti G, Fiori S, Cutrona C, D'Amico A, Sansone VA, Bruno C, Messina S, Mongini T, Coccia M, Siciliano G, Pegoraro E, Masson R, Filosto M, Comi GP, Corti S, Ronchi D, Maggi L, D'Angelo MG, Vacchiano V, Ticci C, Ruggiero L, Verriello L, Ricci FS, Berardinelli AL, Maioli MA, Garibaldi M, Nigro V, Previtali SC, Pera MC, Tizzano E, Pane M, Tiziano FD, Mercuri E; ITASMAC Working Group. Ricci M, et al. Ann Neurol. 2023 Dec;94(6):1126-1135. doi: 10.1002/ana.26788. Epub 2023 Sep 22. Ann Neurol. 2023. PMID: 37695206 Free article.
Additive effect of DNAJC30 and NDUFA9 mutations causing Leigh syndrome.
Nesti C, Ticci C, Rubegni A, Doccini S, Scaturro G, Vetro A, Guerrini R, Santorelli FM, Procopio E. Nesti C, et al. Among authors: procopio e. J Neurol. 2023 Jun;270(6):3266-3269. doi: 10.1007/s00415-023-11673-7. Epub 2023 Mar 20. J Neurol. 2023. PMID: 36939934 No abstract available.
Macrophage CD31 Signaling in Dissecting Aortic Aneurysm.
Andreata F, Syvannarath V, Clement M, Delbosc S, Guedj K, Fornasa G, Khallou-Laschet J, Morvan M, Even G, Procopio E, Gaston AT, Le Borgne M, Deschamps L, Nicoletti A, Caligiuri G. Andreata F, et al. Among authors: procopio e. J Am Coll Cardiol. 2018 Jul 3;72(1):45-57. doi: 10.1016/j.jacc.2018.04.047. J Am Coll Cardiol. 2018. PMID: 29957231 Free article.
101 results