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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 1
2011 4
2012 3
2013 1
2014 4
2015 5
2016 7
2017 9
2018 8
2019 11
2020 5
2021 11
2022 8
2023 6
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85 results
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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.
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.
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: procopio e. J Neurol. 2022 Jan;269(1):437-450. doi: 10.1007/s00415-021-10792-3. Epub 2021 Sep 6. J Neurol. 2022. PMID: 34487232
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.
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.
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.
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
Correction to: Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review.
Della Vecchia S, 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. Della Vecchia S, et al. Among authors: procopio e. J Neurol. 2022 Jan;269(1):451. doi: 10.1007/s00415-021-10839-5. J Neurol. 2022. PMID: 34652506 No abstract available.
Learning from massive testing of mitochondrial disorders: UPD explaining unorthodox transmission.
Tolomeo D, Rubegni A, Nesti C, Barghigiani M, Battini R, D'Amore F, Doccini S, Donati MA, Galatolo D, Giglio S, Guarducci S, Pantaleo M, Pasquariello R, Procopio E, Pochiero F, Tessa A, Santorelli FMM. Tolomeo D, et al. Among authors: procopio e. J Med Genet. 2021 Aug;58(8):543-546. doi: 10.1136/jmedgenet-2020-107644. Epub 2021 Jun 16. J Med Genet. 2021. PMID: 34135091 No abstract available.
85 results