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Page 1
Mutations disrupting neuritogenesis genes confer risk for cerebral palsy.
Jin SC, Lewis SA, Bakhtiari S, Zeng X, Sierant MC, Shetty S, Nordlie SM, Elie A, Corbett MA, Norton BY, van Eyk CL, Haider S, Guida BS, Magee H, Liu J, Pastore S, Vincent JB, Brunstrom-Hernandez J, Papavasileiou A, Fahey MC, Berry JG, Harper K, Zhou C, Zhang J, Li B, Zhao H, Heim J, Webber DL, Frank MSB, Xia L, Xu Y, Zhu D, Zhang B, Sheth AH, Knight JR, Castaldi C, Tikhonova IR, López-Giráldez F, Keren B, Whalen S, Buratti J, Doummar D, Cho M, Retterer K, Millan F, Wang Y, Waugh JL, Rodan L, Cohen JS, Fatemi A, Lin AE, Phillips JP, Feyma T, MacLennan SC, Vaughan S, Crompton KE, Reid SM, Reddihough DS, Shang Q, Gao C, Novak I, Badawi N, Wilson YA, McIntyre SJ, Mane SM, Wang X, Amor DJ, Zarnescu DC, Lu Q, Xing Q, Zhu C, Bilguvar K, Padilla-Lopez S, Lifton RP, Gecz J, MacLennan AH, Kruer MC. Jin SC, et al. Among authors: papavasileiou a. Nat Genet. 2020 Oct;52(10):1046-1056. doi: 10.1038/s41588-020-0695-1. Epub 2020 Sep 28. Nat Genet. 2020. PMID: 32989326 Free PMC article.
MDR/XDR-TB management of patients and contacts: Challenges facing the new decade. The 2020 clinical update by the Global Tuberculosis Network.
Migliori GB, Tiberi S, Zumla A, Petersen E, Chakaya JM, Wejse C, Muñoz Torrico M, Duarte R, Alffenaar JW, Schaaf HS, Marais BJ, Cirillo DM, Alagna R, Rendon A, Pontali E, Piubello A, Figueroa J, Ferlazzo G, García-Basteiro A, Centis R, Visca D, D'Ambrosio L, Sotgiu G; members of the Global Tuberculosis Network. Migliori GB, et al. Int J Infect Dis. 2020 Mar;92S:S15-S25. doi: 10.1016/j.ijid.2020.01.042. Epub 2020 Feb 4. Int J Infect Dis. 2020. PMID: 32032752 Free article. Review.
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.
Helbig KL, Lauerer RJ, Bahr JC, Souza IA, Myers CT, Uysal B, Schwarz N, Gandini MA, Huang S, Keren B, Mignot C, Afenjar A, Billette de Villemeur T, Héron D, Nava C, Valence S, Buratti J, Fagerberg CR, Soerensen KP, Kibaek M, Kamsteeg EJ, Koolen DA, Gunning B, Schelhaas HJ, Kruer MC, Fox J, Bakhtiari S, Jarrar R, Padilla-Lopez S, Lindstrom K, Jin SC, Zeng X, Bilguvar K, Papavasileiou A, Xing Q, Zhu C, Boysen K, Vairo F, Lanpher BC, Klee EW, Tillema JM, Payne ET, Cousin MA, Kruisselbrink TM, Wick MJ, Baker J, Haan E, Smith N, Sadeghpour A, Davis EE, Katsanis N; Task Force for Neonatal Genomics; Corbett MA, MacLennan AH, Gecz J, Biskup S, Goldmann E, Rodan LH, Kichula E, Segal E, Jackson KE, Asamoah A, Dimmock D, McCarrier J, Botto LD, Filloux F, Tvrdik T, Cascino GD, Klingerman S, Neumann C, Wang R, Jacobsen JC, Nolan MA, Snell RG, Lehnert K, Sadleir LG, Anderlid BM, Kvarnung M, Guerrini R, Friez MJ, Lyons MJ, Leonhard J, Kringlen G, Casas K, El Achkar CM, Smith LA, Rotenberg A, Poduri A, Sanchis-Juan A, Carss KJ, Rankin J, Zeman A, Raymond FL, Blyth M, Kerr B, Ruiz K, Urquhart J, Hughes I, Banka S; Deciphering Developmental Disorders Study; Hedrich UBS, Scheffer IE, Helbig I… See abstract for full author list ➔ Helbig KL, et al. Among authors: papavasileiou a. Am J Hum Genet. 2018 Nov 1;103(5):666-678. doi: 10.1016/j.ajhg.2018.09.006. Epub 2018 Oct 18. Am J Hum Genet. 2018. PMID: 30343943 Free PMC article.
Mycobacterium avium complex pulmonary disease patients with limited treatment options.
Aliberti S, Blasi F, Burgel PR, Calcagno A, Fløe A, Grogono D, Papavasileiou A, Polverino E, Prados C, Rohde G, Salzer HJF, Sánchez-Montalvá A, Shteinberg M, Van Braeckel E, van Ingen J, Veziris N, Wagner D, Loebinger MR. Aliberti S, et al. Among authors: papavasileiou a. ERJ Open Res. 2024 Jan 15;10(1):00610-2023. doi: 10.1183/23120541.00610-2023. eCollection 2024 Jan. ERJ Open Res. 2024. PMID: 38226066 Free PMC article.
Outcome of treatment of MDR-TB or drug-resistant patients treated with bedaquiline and delamanid: Results from a large global cohort.
Koirala S, Borisov S, Danila E, Mariandyshev A, Shrestha B, Lukhele N, Dalcolmo M, Shakya SR, Miliauskas S, Kuksa L, Manga S, Aleksa A, Denholm JT, Khadka HB, Skrahina A, Diktanas S, Ferrarese M, Bruchfeld J, Koleva A, Piubello A, Koirala GS, Udwadia ZF, Palmero DJ, Munoz-Torrico M, Gc R, Gualano G, Grecu VI, Motta I, Papavasileiou A, Li Y, Hoefsloot W, Kunst H, Mazza-Stalder J, Payen MC, Akkerman OW, Bernal E, Manfrin V, Matteelli A, Mustafa Hamdan H, Nieto Marcos M, Cadiñanos Loidi J, Cebrian Gallardo JJ, Duarte R, Escobar Salinas N, Gomez Rosso R, Laniado-Laborín R, Martínez Robles E, Quirós Fernandez S, Rendon A, Solovic I, Tadolini M, Viggiani P, Belilovski E, Boeree MJ, Cai Q, Davidavičienė E, Forsman LD, De Los Rios J, Drakšienė J, Duga A, Elamin SE, Filippov A, Garcia A, Gaudiesiute I, Gavazova B, Gayoso R, Gruslys V, Jonsson J, Khimova E, Madonsela G, Magis-Escurra C, Marchese V, Matei M, Moschos C, Nakčerienė B, Nicod L, Palmieri F, Pontarelli A, Šmite A, Souleymane MB, Vescovo M, Zablockis R, Zhurkin D, Alffenaar JW, Caminero JA, Codecasa LR, García-García JM, Esposito S, Saderi L, Spanevello A, Visca D, Tiberi S, Pontali E, Centis R, D'Ambrosio L, van den Boom M… See abstract for full author list ➔ Koirala S, et al. Among authors: papavasileiou a. Pulmonology. 2021 Sep-Oct;27(5):403-412. doi: 10.1016/j.pulmoe.2021.02.006. Epub 2021 Mar 19. Pulmonology. 2021. PMID: 33753021 Free article.
Patients at risk of nontuberculous mycobacterial pulmonary disease who need testing evaluated using a modified Delphi process by European experts.
Loebinger MR, Aliberti S, Haworth C, Jankovic Makek M, Lange C, Lorent N, Papavasileiou A, Polverino E, Rohde G, Veziris N, Wagner D, van Ingen J. Loebinger MR, et al. Among authors: papavasileiou a. ERJ Open Res. 2024 Sep 23;10(5):00791-2023. doi: 10.1183/23120541.00791-2023. eCollection 2024 Sep. ERJ Open Res. 2024. PMID: 39319044 Free PMC article.
Severe Pulmonary Disease Caused by Mycolicibacter kumamotonensis.
Manika K, Kontos F, Papavasileiou A, Papaventsis D, Sionidou M, Kioumis I. Manika K, et al. Among authors: papavasileiou a. Emerg Infect Dis. 2021 Mar;27(3):962-964. doi: 10.3201/eid2703.191648. Emerg Infect Dis. 2021. PMID: 33622489 Free PMC article.
39 results