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

Year Number of Results
1954 1
1962 1
1967 2
1969 1
1970 1
1971 1
1981 1
1983 1
1986 1
1987 1
1988 2
1989 1
1990 3
1991 1
1992 1
1993 1
1994 1
1995 4
1996 4
1997 4
1998 2
1999 6
2000 2
2001 1
2002 3
2003 2
2004 5
2005 6
2006 7
2007 1
2008 5
2009 6
2010 8
2011 5
2012 5
2013 12
2014 10
2015 5
2016 13
2017 11
2018 14
2019 19
2020 23
2021 17
2022 15
2023 17
2024 2

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225 results

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Page 1
Carotid Plaque-RADS: A Novel Stroke Risk Classification System.
Saba L, Cau R, Murgia A, Nicolaides AN, Wintermark M, Castillo M, Staub D, Kakkos SK, Yang Q, Paraskevas KI, Yuan C, Edjlali M, Sanfilippo R, Hendrikse J, Johansson E, Mossa-Basha M, Balu N, Dichgans M, Saloner D, Bos D, Jager HR, Naylor R, Faa G, Suri JS, Costello J, Auer DP, Mcnally JS, Bonati LH, Nardi V, van der Lugt A, Griffin M, Wasserman BA, Kooi ME, Gillard J, Lanzino G, Mikhailidis DP, Mandell DM, Benson JC, van Dam-Nolen DHK, Kopczak A, Song JW, Gupta A, DeMarco JK, Chaturvedi S, Virmani R, Hatsukami TS, Brown M, Moody AR, Libby P, Schindler A, Saam T. Saba L, et al. Among authors: murgia a. JACC Cardiovasc Imaging. 2024 Jan;17(1):62-75. doi: 10.1016/j.jcmg.2023.09.005. Epub 2023 Oct 11. JACC Cardiovasc Imaging. 2024. PMID: 37823860
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders.
Guo H, Bettella E, Marcogliese PC, Zhao R, Andrews JC, Nowakowski TJ, Gillentine MA, Hoekzema K, Wang T, Wu H, Jangam S, Liu C, Ni H, Willemsen MH, van Bon BW, Rinne T, Stevens SJC, Kleefstra T, Brunner HG, Yntema HG, Long M, Zhao W, Hu Z, Colson C, Richard N, Schwartz CE, Romano C, Castiglia L, Bottitta M, Dhar SU, Erwin DJ, Emrick L, Keren B, Afenjar A, Zhu B, Bai B, Stankiewicz P, Herman K; University of Washington Center for Mendelian Genomics; Mercimek-Andrews S, Juusola J, Wilfert AB, Abou Jamra R, Büttner B, Mefford HC, Muir AM, Scheffer IE, Regan BM, Malone S, Gecz J, Cobben J, Weiss MM, Waisfisz Q, Bijlsma EK, Hoffer MJV, Ruivenkamp CAL, Sartori S, Xia F, Rosenfeld JA, Bernier RA, Wangler MF, Yamamoto S, Xia K, Stegmann APA, Bellen HJ, Murgia A, Eichler EE. Guo H, et al. Among authors: murgia a. Nat Commun. 2019 Oct 15;10(1):4679. doi: 10.1038/s41467-019-12435-8. Nat Commun. 2019. PMID: 31616000 Free PMC article.
CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.
Gehin C, Lone MA, Lee W, Capolupo L, Ho S, Adeyemi AM, Gerkes EH, Stegmann AP, López-Martín E, Bermejo-Sánchez E, Martínez-Delgado B, Zweier C, Kraus C, Popp B, Strehlow V, Gräfe D, Knerr I, Jones ER, Zamuner S, Abriata LA, Kunnathully V, Moeller BE, Vocat A, Rommelaere S, Bocquete JP, Ruchti E, Limoni G, Van Campenhoudt M, Bourgeat S, Henklein P, Gilissen C, van Bon BW, Pfundt R, Willemsen MH, Schieving JH, Leonardi E, Soli F, Murgia A, Guo H, Zhang Q, Xia K, Fagerberg CR, Beier CP, Larsen MJ, Valenzuela I, Fernández-Álvarez P, Xiong S, Śmigiel R, López-González V, Armengol L, Morleo M, Selicorni A, Torella A, Blyth M, Cooper NS, Wilson V, Oegema R, Herenger Y, Garde A, Bruel AL, Tran Mau-Them F, Maddocks AB, Bain JM, Bhat MA, Costain G, Kannu P, Marwaha A, Champaigne NL, Friez MJ, Richardson EB, Gowda VK, Srinivasan VM, Gupta Y, Lim TY, Sanna-Cherchi S, Lemaitre B, Yamaji T, Hanada K, Burke JE, Jakšić AM, McCabe BD, De Los Rios P, Hornemann T, D'Angelo G, Gennarino VA. Gehin C, et al. Among authors: murgia a. J Clin Invest. 2023 May 15;133(10):e165019. doi: 10.1172/JCI165019. J Clin Invest. 2023. PMID: 36976648 Free PMC article.
GJB2 mutations and degree of hearing loss: a multicenter study.
Snoeckx RL, Huygen PL, Feldmann D, Marlin S, Denoyelle F, Waligora J, Mueller-Malesinska M, Pollak A, Ploski R, Murgia A, Orzan E, Castorina P, Ambrosetti U, Nowakowska-Szyrwinska E, Bal J, Wiszniewski W, Janecke AR, Nekahm-Heis D, Seeman P, Bendova O, Kenna MA, Frangulov A, Rehm HL, Tekin M, Incesulu A, Dahl HH, du Sart D, Jenkins L, Lucas D, Bitner-Glindzicz M, Avraham KB, Brownstein Z, del Castillo I, Moreno F, Blin N, Pfister M, Sziklai I, Toth T, Kelley PM, Cohn ES, Van Maldergem L, Hilbert P, Roux AF, Mondain M, Hoefsloot LH, Cremers CW, Löppönen T, Löppönen H, Parving A, Gronskov K, Schrijver I, Roberson J, Gualandi F, Martini A, Lina-Granade G, Pallares-Ruiz N, Correia C, Fialho G, Cryns K, Hilgert N, Van de Heyning P, Nishimura CJ, Smith RJ, Van Camp G. Snoeckx RL, et al. Among authors: murgia a. Am J Hum Genet. 2005 Dec;77(6):945-57. doi: 10.1086/497996. Epub 2005 Oct 19. Am J Hum Genet. 2005. PMID: 16380907 Free PMC article.
DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with KAT6A/KAT6B variants.
Vos N, Reilly J, Elting MW, Campeau PM, Coman D, Stark Z, Tan TY, Amor DJ, Kaur S, StJohn M, Morgan AT, Kamien BA, Patel C, Tedder ML, Merla G, Prontera P, Castori M, Muru K, Collins F, Christodoulou J, Smith J, Zeev BB, Murgia A, Leonardi E, Esber N, Martinez-Monseny A, Casas-Alba D, Wallis M, Mannens M, Levy MA, Relator R, Alders M, Sadikovic B. Vos N, et al. Among authors: murgia a. Epigenomics. 2023 Mar;15(6):351-367. doi: 10.2217/epi-2023-0079. Epub 2023 May 30. Epigenomics. 2023. PMID: 37249002
FOCUS trial: results, potentialities and limits.
Saba L, Balestrieri A, Serra A, Garau R, Politi C, Lucatelli P, Murgia A, Suri JS, Mannelli L. Saba L, et al. Among authors: murgia a. Ann Transl Med. 2019 Jul;7(Suppl 3):S152. doi: 10.21037/atm.2019.06.37. Ann Transl Med. 2019. PMID: 31576359 Free PMC article. No abstract available.
Non-alcoholic fatty liver disease is characterised by a reduced polyunsaturated fatty acid transport via free fatty acids and high-density lipoproteins (HDL).
Mocciaro G, Allison M, Jenkins B, Azzu V, Huang-Doran I, Herrera-Marcos LV, Hall Z, Murgia A, Susan D, Frontini M, Vidal-Puig A, Koulman A, Griffin JL, Vacca M. Mocciaro G, et al. Among authors: murgia a. Mol Metab. 2023 Jul;73:101728. doi: 10.1016/j.molmet.2023.101728. Epub 2023 Apr 19. Mol Metab. 2023. PMID: 37084865 Free PMC article.
Familial nonsyndromic pheochromocytoma.
Opocher G, Schiavi F, Iacobone M, Toniato A, Sattarova S, Erlic Z, Martella M, Mian C, Merante Boschin I, Zambonin L, De Lazzari P, Murgia A, Pelizzo MR, Favia G, Mantero F. Opocher G, et al. Among authors: murgia a. Ann N Y Acad Sci. 2006 Aug;1073:149-55. doi: 10.1196/annals.1353.015. Ann N Y Acad Sci. 2006. PMID: 17102081
Plaque imaging volume analysis: technique and application.
Murgia A, Balestrieri A, Francone M, Lucatelli P, Scapin E, Buckler A, Micheletti G, Faa G, Conti M, Suri JS, Guglielmi G, Carriero A, Saba L. Murgia A, et al. Cardiovasc Diagn Ther. 2020 Aug;10(4):1032-1047. doi: 10.21037/cdt.2020.03.01. Cardiovasc Diagn Ther. 2020. PMID: 32968659 Free PMC article. Review.
225 results