Zobrazeno 1 - 10
of 837
pro vyhledávání: '"Berg LH"'
Publikováno v:
Clinical Epidemiology, Vol Volume 10, Pp 333-341 (2018)
Ruben PA van Eijk,1 Marinus JC Eijkemans,2 Dimitris Rizopoulos,3 Leonard H van den Berg,4,* Stavros Nikolakopoulos5,* 1Department of Neurology, University Medical Center Utrecht, Utrecht, the Netherlands; 2Department of Biostatistics, University Medi
Externí odkaz:
https://doaj.org/article/10f7483a187b41e28e7bfaafa6d98fce
Autor:
Škorić-Milosavljević, D, Tadros, R, Bosada, FM, Tessadori, F, van Weerd, JH, Woudstra, OI, Tjong, FVY, Lahrouchi, N, Bajolle, F, Cordell, HJ, Agopian, AJ, Blue, GM, Barge-Schaapveld, DQCM, Gewillig, M, Preuss, C, Lodder, EM, Barnett, P, Ilgun, A, Beekman, L, van Duijvenboden, K, Bokenkamp, R, Müller-Nurasyid, M, Vliegen, HW, Konings, TC, van Melle, JP, van Dijk, APJ, van Kimmenade, RRJ, Roos-Hesselink, JW, Sieswerda, GT, Meijboom, F, Abdul-Khaliq, H, Berger, F, Dittrich, S, Hitz, M-P, Moosmann, J, Riede, F-T, Schubert, S, Galan, P, Lathrop, M, Munter, HM, Al-Chalabi, A, Shaw, CE, Shaw, PJ, Morrison, KE, Veldink, JH, van den Berg, LH, Evans, S, Nobrega, MA, Aneas, I, Radivojkov-Blagojević, M, Meitinger, T, Oechslin, E, Mondal, T, Bergin, L, Smythe, JF, Altamirano-Diaz, L, Lougheed, J, Bouma, BJ, Chaix, M-A, Kline, J, Bassett, AS, Andelfinger, G, van der Palen, RLF, Bouvagnet, P, Clur, S-AB, Breckpot, J, Kerstjens-Frederikse, WS, Winlaw, DS, Bauer, UMM, Mital, S, Goldmuntz, E, Keavney, B, Bonnet, D, Mulder, BJ, Tanck, MWT, Bakkers, J, Christoffels, VM, Boogerd, CJ, Postma, AV, Bezzina, CR
Publikováno v:
Circ Res
Circulation Research. Lippincott Williams & Wilkins
Circulation Research, 130, 166-180
Circulation Research, 130(2), 166-180. LIPPINCOTT WILLIAMS & WILKINS
Circulation Research, 130, 2, pp. 166-180
Circulation Research, 130(2), 166-180. Lippincott Williams & Wilkins
Circulation research, 130(2), 166-180. LIPPINCOTT WILLIAMS & WILKINS
Paediatrics Publications
Circulation research, 130(2), 166-180. Lippincott Williams and Wilkins
KORA-Study Group 2022, ' Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries ', Circulation Research, vol. 130, no. 2, pp. 166-180 . https://doi.org/10.1161/CIRCRESAHA.120.317107
Circ. Res. 130, 166-180 (2021)
Circulation Research, 130(2), 166-180. Lippincott Williams and Wilkins
Circulation Research. Lippincott Williams & Wilkins
Circulation Research, 130, 166-180
Circulation Research, 130(2), 166-180. LIPPINCOTT WILLIAMS & WILKINS
Circulation Research, 130, 2, pp. 166-180
Circulation Research, 130(2), 166-180. Lippincott Williams & Wilkins
Circulation research, 130(2), 166-180. LIPPINCOTT WILLIAMS & WILKINS
Paediatrics Publications
Circulation research, 130(2), 166-180. Lippincott Williams and Wilkins
KORA-Study Group 2022, ' Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries ', Circulation Research, vol. 130, no. 2, pp. 166-180 . https://doi.org/10.1161/CIRCRESAHA.120.317107
Circ. Res. 130, 166-180 (2021)
Circulation Research, 130(2), 166-180. Lippincott Williams and Wilkins
Rationale: Dextro-transposition of the great arteries (D-TGA) is a severe congenital heart defect which affects approximately 1 in 4,000 live births. While there are several reports of D-TGA patients with rare variants in individual genes, the majori
Autor:
van Rheenen, W, van der Spek, RAA, Bakker, MK, van Vugt, JJFA, Hop, PJ, Zwamborn, RAJ, de Klein, N, Westra, HJ, Bakker, OB, Deelen, P, Shireby, G, Hannon, E, Moisse, M, Baird, D, Restuadi, R, Dolzhenko, E, Dekker, AM, Gawor, K, Westeneng, HJ, Tazelaar, GHP, van Eijk, KR, Kooyman, M, Byrne, RP, Doherty, M, Heverin, M, Al Khleifat, A, Iacoangeli, A, Shatunov, A, Ticozzi, N, Cooper-Knock, J, Smith, BN, Gromicho, M, Chandran, S, Pal, S, Morrison, KE, Shaw, PJ, Hardy, J, Orrell, RW, Sendtner, M, Meyer, T, Basak, N, van der Kooi, AJ, Ratti, A, Fogh, I, Gellera, C, Lauria, G, Corti, S, Cereda, C, Sproviero, D, Soraru, G, Siciliano, G, Filosto, M, Padovani, A, Chio, A, Calvo, A, Moglia, C, Brunetti, M, Canosa, A, Grassano, M, Beghi, E, Pupillo, E, Logroscino, G, Nefussy, B, Osmanovic, A, Nordin, A, Lerner, Y, Zabari, M, Gotkine, M, Baloh, RH, Bell, S, Vourc'h, P, Corcia, P, Couratier, P, Millecamps, S, Meininger, V, Salachas, F, Pardina, JMS, Assialioui, A, Rojas-Garcia, R, Dion, PA, Ross, JP, Ludolph, AC, Weishaupt, JH, Brenner, D, Freischmidt, A, Bensimon, G, Brice, A, Durr, A, Payan, CAM, Saker-Delye, S, Wood, NW, Topp, S, Rademakers, R, Tittmann, L, Lieb, W, Franke, A, Ripke, S, Braun, A, Kraft, J, Whiteman, DC, Olsen, CM, Uitterlinden, AG, Hofman, A, Rietschel, M, Cichon, S, Nothen, MM, Amouyel, P, Comi, G, Riva, N, Lunetta, C, Gerardi, F, Cotelli, MS, Rinaldi, F, Chiveri, L, Guaita, MC, Perrone, P, Diamanti, L, Ferrarese, C, Tremolizzo, L, Delodovici, ML, Bono, G, Manera, U, Vasta, R, Bombaci, A, Casale, F, Fuda, G, Salamone, P, Iazzolino, B, Peotta, L, Cugnasco, P, De Marco, G, Torrieri, MC, Palumbo, F, Gallone, S, Barberis, M, Sbaiz, L, Gentile, S, Mauro, A, De Marchi, F, D'Alfonso, S, Bertolotto, A, Gionco, M, Leotta, D, Odddenino, E, Imperiale, D, Cavallo, R, Pignatta, P, De Mattei, M, Geda, C, Papurello, DM, Gusmaroli, G, Comi, C, Labate, C, Ruiz, L, Ferrandi, D, Rota, E, Aguggia, M, Di Vito, N, Meineri, P, Ghiglione, P, Launaro, N, Dotta, M, Di Sapio, A, Giardini, G, Tiloca, C, Peverelli, S, Taroni, F, Pensato, V, Castellotti, B, Comi, GP, Del Bo, R, Ceroni, M, Gagliardi, S, Corrado, L, Mazzini, L, Raggi, F, Simoncini, C, Lo Gerfo, A, Inghilleri, M, Ferlini, A, Simone, IL, Passarella, B, Guerra, V, Zoccolella, S, Nozzoli, C, Mundi, C, Leone, M, Zarrelli, M, Tamma, F, Valluzzi, F, Calabrese, G, Boero, G, Rini, A, Traynor, BJ, Singleton, AB, Neto, MM, Cauchi, RJ, Ophoff, RA, Wiedau-Pazos, M, Lomen-Hoerth, C, van Deerlin, VM, Grosskreutz, J, Roediger, A, Gaur, N, Jork, A, Barthel, T, Theele, E, Ilse, B, Stubendorff, B, Witte, OW, Steinbach, R, Hubner, CA, Graff, C, Brylev, L, Fominykh, V, Demeshonok, V, Ataulina, A, Rogelj, B, Koritnik, B, Zidar, J, Ravnik-Glavac, M, Glavac, D, Stevic, Z, Drory, V, Povedano, M, Blair, IP, Kiernan, MC, Benyamin, B, Henderson, RD, Furlong, S, Mathers, S, McCombe, PA, Needham, M, Ngo, ST, Nicholson, GA, Pamphlett, R, Rowe, DB, Steyn, FJ, Williams, KL, Mather, KA, Sachdev, PS, Henders, AK, Wallace, L, de Carvalho, M, Pinto, S, Petri, S, Weber, M, Rouleau, GA, Silani, V, Curtis, CJ, Breen, G, Glass, JD, Brown, RH, Landers, JE, Shaw, CE, Andersen, PM, Groen, EJN, van Es, MA, Pasterkamp, RJ, Fan, DS, Garton, FC, McRae, AF, Smith, GD, Gaunt, TR, Eberle, MA, Mill, J, McLaughlin, RL, Hardiman, O, Kenna, KP, Wray, NR, Tsai, EL, Runz, H, Franke, L, Al-Chalabi, A, Van Damme, P, van den Berg, LH, Veldink, JH, SLALOM Consortium, PARALS Consortium, SLAGEN Consortium, SLAP Consortium
Publikováno v:
NATURE GENETICS
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::14d0bed056ea6e9b6c5550b9e67e8ce3
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=8163
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=8163
Autor:
Matthieu Moisse, Daphna Rothschild, Kevin P. Kenna, Tsviya Olender, Eran Segal, Aleksey Shatunov, Elik Chapnik, Elad Barkan, Sebastian Werneburg, Alfredo Iacoangeli, Justin K. Ichida, Pamela J. Shaw, Ammar Al-Chalabi, Farhan Smk, Dorothy P. Schafer, Eran Hornstein, Omer Weissbrod, Nancy S Yacovzada, Ashley R. Jones, van Eijk Kr, William Sproviero, Van Damme P, van den Berg Lh, Jan H. Veldink, Hung S, Robert H. Brown, van der Spek Raa, Aviad Siany, Chen Eitan, Johnathan Cooper-Knock, Al Khleifat A, Hemali Phatnani
The non-coding genome is substantially larger than the protein-coding genome but is largely unexplored by genetic association studies. Here, we performed region-based burden analysis of >25,000 variants in untranslated regions of 6,139 amyotrophic la
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7694d3e8d29fe3d56d03a5d31951adc3
https://doi.org/10.1101/2021.06.03.446863
https://doi.org/10.1101/2021.06.03.446863
Autor:
Shvetsova, E, Sofronova, A, Monajemi, R, Gagalova, K, Draisma, HHM, White, SJ, Santen, GWE, Lopes, SMCDS, Heijmans, BT, Van Meurs, J, Jansen, R, Franke, L, Kielbasa, SM, Den Dunnen, JT, 't Hoen, PAC, Boomsma, DI, Pool, R, Van Dongen, J, Hottenga, JJ, Van Greevenbroek, MMJ, Da Stehouwer, C, Van der Kallen, CJH, Schalkwijk, CG, Wijmenga, C, Zhernakova, S, Tigchelaar, EF, Slagboom, PE, Beekman, M, Deelen, J, Van Heemst, D, Veldink, JH, Van den Berg, LH, Van Duijn, CM, Hofman, BA, Uitterlinden, AG, Jhamai, PM, Verbiest, M, Suchiman, HED, Verkerk, M, Van der Breggen, R, Van Rooij, J, Lakenberg, N, Mei, H, Bot, J, Zhernakova, DV, 't Hof, PV, Deelen, P, Nooren, I, Moed, M, Vermaat, M, Luijk, R, Bonder, MJ, Van Iterson, M, Van Dijk, F, Van Galen, M, Arindrarto, W, Swertz, MA, Van Zwet, EW, Isaacs, A, Francioli, LC, Menelaou, A, Pulit, SL, Palamara, PF, Elbers, CC, Neerincx, PB, Ye, K, Guryev, V, Kloosterman, WP, Abdellaoui, A, Van Leeuwen, EM, Van Oven, M, Li, M, Laros, JF, Karssen, LC, Kanterakis, A, Amin, N, Lameijer, EW, Kattenberg, M, Dijkstra, M, Byelas, H, Van Setten, J, Van Schaik, BD, Nijman, IJ, Renkens, I, Marschall, T, Schonhuth, A, Hehir-Kwa, JY, Handsaker, RE, Polak, P, Sohail, M, Vuzman, D, Hormozdiari, F, Van Enckevort, D, Koval, V, Moed, MH, Van der Velde, KJ, Rivadeneira, F, Estrada, K, Medina-Gomez, C, McCarroll, SA, De Craen, AJ, Suchiman, HE, Oostra, B, Willemsen, G, Platteel, M, Pitts, SJ, Potluri, S, Sundar, P, Cox, DR, Sunyaev, SR, Stoneking, M, De Knijff, P, Kayser, M, Li, Q, Li, Y, Du, Y, Chen, R, Cao, H, Li, N, Cao, S, Wang, J, Bovenberg, JA, Pe'er, I, Van Ommen, GJ, De Bakker, PI
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, 27(3), 455-465. Nature Publishing Group
European journal of human genetics, 27(3), 455-465. Nature Publishing Group
European Journal of Human Genetics, 27(3), 455-465
European Journal of Human Genetics, 27, 455-465
European Journal of Human Genetics, 27(3), 455. Nature Publishing Group
European Journal of Human Genetics, 27, 3, pp. 455-465
Shvetsova, E, 't Hoen, P A C, Boomsma, D I, Pool, R, van Dongen, J, Hottenga, J J, Willemsen, G & BIOS Consortium 2019, ' Skewed X-inactivation is common in the general female population ', European Journal of Human Genetics, vol. 27, no. 3, pp. 455-465 . https://doi.org/10.1038/s41431-018-0291-3
Shvetsova, E, Sofronova, A, Monajemi, R, Gagalova, K, Draisma, H H M, White, S J, Santen, G W E, Chuva de Sousa Lopes, S M, Heijmans, B T, van Meurs, J, Jansen, R, Franke, L, Kiełbasa, S M, den Dunnen, J T, ‘t Hoen, P A C & BIOS Consortium 2019, ' Skewed X-inactivation is common in the general female population ', European Journal of Human Genetics, vol. 27, no. 3, pp. 455-465 . https://doi.org/10.1038/s41431-018-0291-3
European Journal of Human Genetics, 27(3), 455-465. Nature Publishing Group
European journal of human genetics, 27(3), 455-465. Nature Publishing Group
European Journal of Human Genetics, 27(3), 455-465
European Journal of Human Genetics, 27, 455-465
European Journal of Human Genetics, 27(3), 455. Nature Publishing Group
European Journal of Human Genetics, 27, 3, pp. 455-465
Shvetsova, E, 't Hoen, P A C, Boomsma, D I, Pool, R, van Dongen, J, Hottenga, J J, Willemsen, G & BIOS Consortium 2019, ' Skewed X-inactivation is common in the general female population ', European Journal of Human Genetics, vol. 27, no. 3, pp. 455-465 . https://doi.org/10.1038/s41431-018-0291-3
Shvetsova, E, Sofronova, A, Monajemi, R, Gagalova, K, Draisma, H H M, White, S J, Santen, G W E, Chuva de Sousa Lopes, S M, Heijmans, B T, van Meurs, J, Jansen, R, Franke, L, Kiełbasa, S M, den Dunnen, J T, ‘t Hoen, P A C & BIOS Consortium 2019, ' Skewed X-inactivation is common in the general female population ', European Journal of Human Genetics, vol. 27, no. 3, pp. 455-465 . https://doi.org/10.1038/s41431-018-0291-3
X-inactivation is a well-established dosage compensation mechanism ensuring that X-chromosomal genes are expressed at comparable levels in males and females. Skewed X-inactivation is often explained by negative selection of one of the alleles. We dem
Autor:
Cosgrove, Donna, Whitton, L, Donohoe, G, Morris, DW, Das, Sudipto, Moran, B, Smeets, D, Kel, A, George, S, Van Brussel, T, Peutman, G, Klinger, R, Fender, B, Connor, K, Ebert, M, Gaiser, T, Prehn, JHM, Bacon, O, Kay, E, Hennessy, B, Murphy, V, Byrne, A, Gallagher, WM, Lambrechts, D, O’Connor, D, Murphy, Therese M, Crawford, B, Craig, Z, Mansell, G, White, I, Smith, A, Spaull, S, Imm, J, Hannon, E, Wood, A, Yaghootkar, H, Ji, Y, Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium, Mullins, N, Lewis, CM, Mill, J, Shortall, Ciara, Palfi, A, Chadderton, N, Kenna, PF, Carrigan, M, Boomkamp, S, Shen, S, Hardcastle, AJ, Farrar, GJ, Walsh, Naomi, Nelson, S, Zhang, H, Stolzenberg-Solomon, R, Patrick Byrne, Ross, van Rheenen, W, van den Berg, LH, Veldink, JH, McLaughlin, RL, Cassidy, Lara, Bradley, D, Gunne, Emer, Ward, A, Treacy, E, Lambert, D, Lynch, SA, Kostocenko, Marija, Lang, N, Clark, T, Barton, DE, McVeigh, Terri, Kelly, LJ, Whitmore, E, Mullaney, B, Savage, Sarah, Rakovac-Tisdall, A, Rasheed, E, Mac Namara, B, Keogh, E, O’Connor, P, Durkan, M, Maher, V, Griffin, D, MacAdam, B, Vaughan, C, Ryan, M, Heggarty, S, Hart, P, Crowley, VEF, Mullaney, Brendan, McQuaid, S, O’Brien, C, McDevitt, T, Brosnan, K, Logan, Peter, Byrne, C, Scott, J, Dabir, T, Amenyah, Sophia.D, McMahon, A, Ward, M, Deane, J, McNulty, H, Hughes, CF, Strain, JJ, Horigan, G, Purvis, J, Walsh, CP, Lees-Murdock, DJ, Anderson, Kerry, Cañadas-Garre, M, Maxwell, AP, McKnight, AJ, Angel, Zoe, McKenna, DJ, Ariano, Bruno, Mattiangeli, V, Cassidy, LM, McLaughlin, TR, Power, RK, Stock, JT, Mercieca-Spiteri, B, Stoddart, S, Malone, C, Bradley, DG, Atkinson, Sarah D, Campbell, N, Windrum, L, Hassett, P, Bjourson, AJ, Breslin, Emily, Martiniano, R, Silva, AM, Campbell, Ciaran, McCormack, M, Stapleton, C, the EpiPGX Consortium CP Doherty, Delanty, N, Cavalleri, GL, Cooke, Niall, Nakagome, S, D’Cruz, Leon.G, McEleney, K, Tan, K.B.C, Cobice, D, Dobbins, S, Tahanver, A, McLaughlin, C, Conway, C, Small, D, Connolly, C, Gardiner, P, Gibson, D, Flynn, Mairead, Gill, M, Corvin, A, Morris, D, Morrison, CG, Gilbert, Edmund, O’Reilly, S, Merrigan, M, McGettingan, D, Vitart, V, Joshi, PK, Clark, DW, Campbell, H, Hayward, C, Ring, S, Golding, J, Timpson, N, Navarro, P, Kerr, SM, Amador, C, Campbell, A, Haley, CS, Porteous, DJ, Wilson, JF, McNicholas, Áine, Cosgrove, D, Mothersill, DO, Holleran, L, Holland, J, Dauvermann, M, Salter-Townshend, Michael, Myers, SR, Stapleton, Caragh P, On behalf of the UK and Ireland Renal Transplant Consortium, Conlon, PJ, Villikudathil, Angelina T, McGuigan, D, English, A, C, Kelly, McClean, P, Bjourson, T, Shukla, P, Walsh, Darren J, Parle-McDermott, A, Whitton, Laura, Pardinas, A, Walters, J, Yesmambetov, Adlet, Kenna, P, O’Connor, D P, Zang, Jinnan, Simpson, DA, McKay, GJ, Crowley, Vivion, Walsh, E, Abdelfadil, S, Savage, S, MacNamara, B, McKiernan, S, Pazsderska, A, Murphy, R, McCarroll, K, D’Cruz, Leon G, Husain, SA, Yousef, Z, Edkins, S, Ashelford, K, Lai, FA, Duff, Marie, Cody, N, Clabby, C, McVeigh, TP, Green, AJ, Hengeveld, Jennifer, Doherty, MA, Dupuis, L, Vajda, A, Heverin, M, Hardiman, O, Lang, Niamh, O’Byrne, JJ, Kelly, RM, McKenna, Caoimhe, Morrison, P, Lakhanpaul, M, Saxena, N, Dabir, TA, Jones, J, Smith, G, Morrison, PJ, Znaczko, A, Hurrell, D, Donnelly, D, Al Shehhii, M, Jones, E. A., Murray, A, Wedderburn, S, Porteous, M, McVeigh, Úna M, Miller, N, Kerin, MJ, Ghrálaigh, Fiana Ní, Kenny, E, Gallagher, L, Lopez, LM, O’Byrne, James J, Byrne, N, Tapiea, D, Abidin, Z, Pastores, GM, Treacy, EP, Sasaki, Erina, McVeigh, T, O’Hici, B, O’Connell, S, Betts, D, McArdle, L, Hegarty, A, Gill, H, Flanagan, O, McMahon, C, Bradley, L, Scott, Janice, Martin, R, Logan, P, Ward, Alana, Giffney, C, Peyton, C, Turner, J, White, N, Znaczko, Anna, Benson, Katherine A, Kennedy, C, Murray, S, Conlon, P, Dwane, Lisa, Das, S, O’Connor, A E, Mulrane, L, Dirac, A M, Mooney, B, Jirstrom, K, Crown, J P, Bernards, R, Gallagher, W M, Ní Chonghaile, T
Publikováno v:
The Ulster Medical Journal
Myocyte enhancer factor 2 C (MEF2C) is a transcription factor that plays a central role regulating cell differentiation, proliferation, survival and apoptosis. MEF2C has been implicated in each of the most recent GWAS of cognitive ability (CA) and ed
Autor:
Johnson, JO, Chia, R, Miller, DE, Li, R, Kumaran, R, Abramzon, Y, Alahmady, N, Renton, AE, Topp, SD, Gibbs, JR, Cookson, MR, Sabir, MS, Dalgard, CL, Troakes, C, Jones, AR, Shatunov, A, Iacoangeli, A, Al Khleifat, A, Ticozzi, N, Silani, V, Gellera, C, Blair, IP, Dobson-Stone, C, Kwok, JB, Bonkowski, ES, Palvadeau, R, Tienari, PJ, Morrison, KE, Shaw, PJ, Al-Chalabi, A, Brown, RH, Calvo, A, Mora, G, Al-Saif, H, Gotkine, M, Leigh, F, Chang, IJ, Perlman, SJ, Glass, I, Scott, AI, Shaw, CE, Basak, AN, Landers, JE, Chiò, A, Crawford, TO, Smith, BN, Traynor, BJ, Fallini, C, Gkazi, AS, Scotter, EL, Kenna, KP, Keagle, P, Tiloca, C, Vance, C, Colombrita, C, King, A, Pensato, V, Castellotti, B, Baas, F, ten Asbroek, ALMA, McKenna-Yasek, D, McLaughlin, RL, Polak, M, Asress, S, Esteban-Pérez, J, Stevic, Z, D’Alfonso, S, Mazzini, L, Comi, GP, Del Bo, R, Ceroni, M, Gagliardi, S, Querin, G, Bertolin, C, van Rheenen, W, Rademakers, R, van Blitterswijk, M, Lauria, G, Duga, S, Corti, S, Cereda, C, Corrado, L, Sorarù, G, Williams, KL, Nicholson, GA, Leblond-Manry, C, Rouleau, GA, Hardiman, O, Veldink, JH, van den Berg, LH, Pall, H, Turner, MR, Talbot, K, Taroni, F, García-Redondo, A, Wu, Z, Glass, JD, Ratti, A, Adeleye, A, Soltis, AR, Alba, C, Viollet, C, Bacikova, D, Hupalo, DN, Sukumar, G, Pollard, HB, Wilkerson, MD, Martinez, EM, Ahmed, S, Arepalli, S, Baloh, RH, Bowser, R, Brady, CB, Brice, A, Broach, J, Campbell, RH, Camu, W, Cooper-Knock, J, Ding, J, Drepper, C, Drory, VE, Dunckley, TL, Eicher, JD, England, BK, Faghri, F, Feldman, E, Floeter, MK, Fratta, P, Geiger, JT, Gerhard, G, Gibson, SB, Hardy, J, Harms, MB, Heiman-Patterson, TD, Hernandez, DG, Jansson, L, Kirby, J, Kowall, NW, Laaksovirta, H, Landeck, N, Landi, F, Le Ber, I, Lumbroso, S, MacGowan, DJL, Maragakis, NJ, Mouzat, K, Murphy, NA, Myllykangas, L, Nalls, MA, Orrell, RW, Ostrow, LW, Pamphlett, R, Pickering-Brown, S, Pioro, EP, Pletnikova, O, Pliner, HA, Pulst, SM, Ravits, JM, Rivera, A, Robberecht, W, Rogaeva, E, Rollinson, S, Rothstein, JD, Scholz, SW, Sendtner, M, Sidle, KC, Simmons, Z, Singleton, AB, Smith, N, Stone, DJ, Troncoso, JC, Valori, M, Van Damme, P, Van Deerlin, VM, Van Den Bosch, L, Zinman, L, Angelocola, SM, Ausiello, FP, Barberis, M, Bartolomei, I, Battistini, S, Bersano, E, Bisogni, G, Borghero, G, Brunetti, M, Cabona, C, Canale, F, Canosa, A, Cantisani, TA, Capasso, M, Caponnetto, C, Cardinali, P, Carrera, P, Casale, F, Colletti, T, Conforti, FL, Conte, A, Conti, E, Corbo, M, Cuccu, S, Dalla Bella, E, D’Errico, E, DeMarco, G, Dubbioso, R, Ferrarese, C, Ferraro, PM, Filippi, M, Fini, N, Floris, G, Fuda, G, Gallone, S, Gianferrari, G, Giannini, F, Grassano, M, Greco, L, Iazzolino, B, Introna, A, La Bella, V, Lattante, S, Liguori, R, Logroscino, G, Logullo, FO, Lunetta, C, Mandich, P, Mandrioli, J, Manera, U, Manganelli, F, Marangi, G, Marinou, K, Marrosu, MG, Martinelli, I, Messina, S, Moglia, C, Mosca, L, Murru, MR, Origone, P, Passaniti, C, Petrelli, C, Petrucci, A, Pozzi, S, Pugliatti, M, Quattrini, A, Ricci, C, Riolo, G, Riva, N, Russo, M, Sabatelli, M, Salamone, P, Salivetto, M, Salvi, F, Santarelli, M, Sbaiz, L, Sideri, R, Simone, I, Simonini, C, Spataro, R, Tanel, R, Tedeschi, G, Ticca, A, Torriello, A, Tranquilli, S, Tremolizzo, L, Trojsi, F, Vasta, R, Vacchiano, V, Vita, G, Volanti, P, Zollino, M, Zucchi, E
Publikováno v:
ITALSGEN Consortium, International ALS Genomics Consortium, American Genome Center & FALS Sequencing Consortium 2021, ' Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis ', JAMA Neurology, vol. 78, no. 10, pp. 1236-1248 . https://doi.org/10.1001/jamaneurol.2021.2598
JAMA Neurology, 78(10), 1236-1248. AMER MEDICAL ASSOC
JAMA Neurology
Johnson, J O, Chia, R, Miller, D E, Li, R, Kumaran, R, Abramzon, Y, Alahmady, N, Renton, A E, Topp, S D, Gibbs, J R, Cookson, M R, Sabir, M S, Dalgard, C L, Troakes, C, Jones, A R, Shatunov, A, Iacoangeli, A, Al Khleifat, A, Ticozzi, N, Silani, V, Gellera, C, Blair, I P, Dobson-Stone, C, Kwok, J B, Bonkowski, E S, Palvadeau, R, Tienari, P J, Morrison, K E, Shaw, P J, Al-Chalabi, A, Brown, R H, Calvo, A, Mora, G, Al-Saif, H, Gotkine, M, Leigh, F, Chang, I J, Perlman, S J, Glass, I, Scott, A I, Shaw, C E, Basak, A N, Landers, J E, Chiò, A, Crawford, T O, Smith, B N, Traynor, B J, Smith, B N, Ticozzi, N, Fallini, C, Gkazi, A S, Topp, S D, Scotter, E L, Kenna, K P, Keagle, P, Tiloca, C, Vance, C, Troakes, C, Colombrita, C, King, A, Pensato, V, Castellotti, B, Baas, F, Ten Asbroek, A L M A, McKenna-Yasek, D, McLaughlin, R L, Polak, M, Asress, S, Esteban-Pérez, J, Stevic, Z, D'Alfonso, S, Mazzini, L, Comi, G P, Del Bo, R, Ceroni, M, Gagliardi, S, Querin, G, Bertolin, C, Van Rheenen, W, Rademakers, R, Van Blitterswijk, M, Lauria, G, Duga, S, Corti, S, Cereda, C, Corrado, L, Sorarù, G, Williams, K L, Nicholson, G A, Blair, I P, Leblond-Manry, C, Rouleau, G A, Hardiman, O, Morrison, K E, Veldink, J H, Van Den Berg, L H, Al-Chalabi, A, Pall, H, Shaw, P J, Turner, M R, Talbot, K, Taroni, F, García-Redondo, A, Wu, Z, Glass, J D, Gellera, C, Ratti, A, Brown, R H, Silani, V, Shaw, C E, Landers, J E, Dalgard, C L, Adeleye, A, Soltis, A R, Alba, C, Viollet, C, Bacikova, D, Hupalo, D N, Sukumar, G, Pollard, H B, Wilkerson, M D, Martinez, E M G, Abramzon, Y, Ahmed, S, Arepalli, S, Baloh, R H, Bowser, R, Brady, C B, Brice, A, Broach, J, Campbell, R H, Camu, W, Chia, R, Cooper-Knock, J, Ding, J, Drepper, C, Drory, V E, Dunckley, T L, Eicher, J D, England, B K, Faghri, F, Feldman, E, Floeter, M K, Fratta, P, Geiger, J T, Gerhard, G, Gibbs, J R, Gibson, S B, Glass, J D, Hardy, J, Harms, M B, Heiman-Patterson, T D, Hernandez, D G, Jansson, L, Kirby, J, Kowall, N W, Laaksovirta, H, Landeck, N, Landi, F, Le Ber, I, Lumbroso, S, Macgowan, D J L, Maragakis, N J, Mora, G, Mouzat, K, Murphy, N A, Myllykangas, L, Nalls, M A, Orrell, R W, Ostrow, L W, Pamphlett, R, Pickering-Brown, S, Pioro, E P, Pletnikova, O, Pliner, H A, Pulst, S M, Ravits, J M, Renton, A E, Rivera, A, Robberecht, W, Rogaeva, E, Rollinson, S, Rothstein, J D, Scholz, S W, Sendtner, M, Shaw, P J, Sidle, K C, Simmons, Z, Singleton, A B, Smith, N, Stone, D J, Tienari, P J, Troncoso, J C, Valori, M, Van Damme, P, Van Deerlin, V M, Van Den Bosch, L, Zinman, L, Landers, J E, Chiò, A, Traynor, B J, Angelocola, S M, Ausiello, F P, Barberis, M, Bartolomei, I, Battistini, S, Bersano, E, Bisogni, G, Borghero, G, Brunetti, M, Cabona, C, Calvo, A, Canale, F, Canosa, A, Cantisani, T A, Capasso, M, Caponnetto, C, Cardinali, P, Carrera, P, Casale, F, Chiò, A, Colletti, T, Conforti, F L, Conte, A, Conti, E, Corbo, M, Cuccu, S, Dalla Bella, E, D'Errico, E, Demarco, G, Dubbioso, R, Ferrarese, C, Ferraro, P M, Filippi, M, Fini, N, Floris, G, Fuda, G, Gallone, S, Gianferrari, G, Giannini, F, Grassano, M, Greco, L, Iazzolino, B, Introna, A, La Bella, V, Lattante, S, Lauria, G, Liguori, R, Logroscino, G, Logullo, F O, Lunetta, C, Mandich, P, Mandrioli, J, Manera, U, Manganelli, F, Marangi, G, Marinou, K, Marrosu, M G, Martinelli, I, Messina, S, Moglia, C, Mora, G, Mosca, L, Murru, M R, Origone, P, Passaniti, C, Petrelli, C, Petrucci, A, Pozzi, S, Pugliatti, M, Quattrini, A, Ricci, C, Riolo, G, Riva, N, Russo, M, Sabatelli, M, Salamone, P, Salivetto, M, Salvi, F, Santarelli, M, Sbaiz, L, Sideri, R, Simone, I, Simonini, C, Spataro, R, Tanel, R, Tedeschi, G, Ticca, A, Torriello, A, Tranquilli, S, Tremolizzo, L, Trojsi, F, Vasta, R, Vacchiano, V, Vita, G, Volanti, P, Zollino, M & Zucchi, E 2021, ' Association of variants in the SPTLC1 gene with juvenile amyotrophic lateral sclerosis ', JAMA Neurology, vol. 78, no. 10, pp. 1236-1248 . https://doi.org/10.1001/jamaneurol.2021.2598
JAMA Neurology, 78(10), 1236-1248. American Medical Association
JAMA Neurology, 78(10), 1236-1248. AMER MEDICAL ASSOC
JAMA Neurology
Johnson, J O, Chia, R, Miller, D E, Li, R, Kumaran, R, Abramzon, Y, Alahmady, N, Renton, A E, Topp, S D, Gibbs, J R, Cookson, M R, Sabir, M S, Dalgard, C L, Troakes, C, Jones, A R, Shatunov, A, Iacoangeli, A, Al Khleifat, A, Ticozzi, N, Silani, V, Gellera, C, Blair, I P, Dobson-Stone, C, Kwok, J B, Bonkowski, E S, Palvadeau, R, Tienari, P J, Morrison, K E, Shaw, P J, Al-Chalabi, A, Brown, R H, Calvo, A, Mora, G, Al-Saif, H, Gotkine, M, Leigh, F, Chang, I J, Perlman, S J, Glass, I, Scott, A I, Shaw, C E, Basak, A N, Landers, J E, Chiò, A, Crawford, T O, Smith, B N, Traynor, B J, Smith, B N, Ticozzi, N, Fallini, C, Gkazi, A S, Topp, S D, Scotter, E L, Kenna, K P, Keagle, P, Tiloca, C, Vance, C, Troakes, C, Colombrita, C, King, A, Pensato, V, Castellotti, B, Baas, F, Ten Asbroek, A L M A, McKenna-Yasek, D, McLaughlin, R L, Polak, M, Asress, S, Esteban-Pérez, J, Stevic, Z, D'Alfonso, S, Mazzini, L, Comi, G P, Del Bo, R, Ceroni, M, Gagliardi, S, Querin, G, Bertolin, C, Van Rheenen, W, Rademakers, R, Van Blitterswijk, M, Lauria, G, Duga, S, Corti, S, Cereda, C, Corrado, L, Sorarù, G, Williams, K L, Nicholson, G A, Blair, I P, Leblond-Manry, C, Rouleau, G A, Hardiman, O, Morrison, K E, Veldink, J H, Van Den Berg, L H, Al-Chalabi, A, Pall, H, Shaw, P J, Turner, M R, Talbot, K, Taroni, F, García-Redondo, A, Wu, Z, Glass, J D, Gellera, C, Ratti, A, Brown, R H, Silani, V, Shaw, C E, Landers, J E, Dalgard, C L, Adeleye, A, Soltis, A R, Alba, C, Viollet, C, Bacikova, D, Hupalo, D N, Sukumar, G, Pollard, H B, Wilkerson, M D, Martinez, E M G, Abramzon, Y, Ahmed, S, Arepalli, S, Baloh, R H, Bowser, R, Brady, C B, Brice, A, Broach, J, Campbell, R H, Camu, W, Chia, R, Cooper-Knock, J, Ding, J, Drepper, C, Drory, V E, Dunckley, T L, Eicher, J D, England, B K, Faghri, F, Feldman, E, Floeter, M K, Fratta, P, Geiger, J T, Gerhard, G, Gibbs, J R, Gibson, S B, Glass, J D, Hardy, J, Harms, M B, Heiman-Patterson, T D, Hernandez, D G, Jansson, L, Kirby, J, Kowall, N W, Laaksovirta, H, Landeck, N, Landi, F, Le Ber, I, Lumbroso, S, Macgowan, D J L, Maragakis, N J, Mora, G, Mouzat, K, Murphy, N A, Myllykangas, L, Nalls, M A, Orrell, R W, Ostrow, L W, Pamphlett, R, Pickering-Brown, S, Pioro, E P, Pletnikova, O, Pliner, H A, Pulst, S M, Ravits, J M, Renton, A E, Rivera, A, Robberecht, W, Rogaeva, E, Rollinson, S, Rothstein, J D, Scholz, S W, Sendtner, M, Shaw, P J, Sidle, K C, Simmons, Z, Singleton, A B, Smith, N, Stone, D J, Tienari, P J, Troncoso, J C, Valori, M, Van Damme, P, Van Deerlin, V M, Van Den Bosch, L, Zinman, L, Landers, J E, Chiò, A, Traynor, B J, Angelocola, S M, Ausiello, F P, Barberis, M, Bartolomei, I, Battistini, S, Bersano, E, Bisogni, G, Borghero, G, Brunetti, M, Cabona, C, Calvo, A, Canale, F, Canosa, A, Cantisani, T A, Capasso, M, Caponnetto, C, Cardinali, P, Carrera, P, Casale, F, Chiò, A, Colletti, T, Conforti, F L, Conte, A, Conti, E, Corbo, M, Cuccu, S, Dalla Bella, E, D'Errico, E, Demarco, G, Dubbioso, R, Ferrarese, C, Ferraro, P M, Filippi, M, Fini, N, Floris, G, Fuda, G, Gallone, S, Gianferrari, G, Giannini, F, Grassano, M, Greco, L, Iazzolino, B, Introna, A, La Bella, V, Lattante, S, Lauria, G, Liguori, R, Logroscino, G, Logullo, F O, Lunetta, C, Mandich, P, Mandrioli, J, Manera, U, Manganelli, F, Marangi, G, Marinou, K, Marrosu, M G, Martinelli, I, Messina, S, Moglia, C, Mora, G, Mosca, L, Murru, M R, Origone, P, Passaniti, C, Petrelli, C, Petrucci, A, Pozzi, S, Pugliatti, M, Quattrini, A, Ricci, C, Riolo, G, Riva, N, Russo, M, Sabatelli, M, Salamone, P, Salivetto, M, Salvi, F, Santarelli, M, Sbaiz, L, Sideri, R, Simone, I, Simonini, C, Spataro, R, Tanel, R, Tedeschi, G, Ticca, A, Torriello, A, Tranquilli, S, Tremolizzo, L, Trojsi, F, Vasta, R, Vacchiano, V, Vita, G, Volanti, P, Zollino, M & Zucchi, E 2021, ' Association of variants in the SPTLC1 gene with juvenile amyotrophic lateral sclerosis ', JAMA Neurology, vol. 78, no. 10, pp. 1236-1248 . https://doi.org/10.1001/jamaneurol.2021.2598
JAMA Neurology, 78(10), 1236-1248. American Medical Association
Key Points Question What genetic variants are associated with juvenile amyotrophic lateral sclerosis (ALS)? Findings In this family-based genetic study, exome sequencing was performed in 3 patients diagnosed with juvenile ALS and failure to thrive; t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10862114c06ef9a5b843bbe1b0efa405
https://hdl.handle.net/11585/852152
https://hdl.handle.net/11585/852152
Autor:
Orla Hardiman, Karen E. Morrison, Johnathan Cooper-Knock, Susan Mathers, Matthieu Moisse, Kevin P. Kenna, Michal Zabari, Ruben J. Cauchi, Jonathan Mill, Maurizio Grassano, Paul J. Hop, de Carvalho M, Allan F. McRae, John Landers, Heiko Runz, Basak An, Lerner Y, Mònica Povedano, Drory, Patrick Vourc'h, Philippe Couratier, van Rheenen W, Jan H. Veldink, Denis Baird, Antonia Ratti, Van Damme P, Garth A. Nicholson, Andrea Calvo, van Vugt Jj, Nicola Ticozzi, Eilis Hannon, Antonio Canosa, Silani, Matthew C. Kiernan, Ian P. Blair, Guy A. Rouleau, Mitne Neto M, Kelly L. Williams, Christopher Shaw, Emma Walker, Markus Weber, Frederik J. Steyn, Anjali K. Henders, Peter M. Andersen, Marta F. Nabais, Henk-Jan Westeneng, Dominic B. Rowe, Ramona A. J. Zwamborn, Salas T, Susana Pinto, Shyuan T. Ngo, van den Berg Lh, Sarah Furlong, Adriano Chiò, Mora Pardina Js, Marc Gotkine, Leanne Wallace, Al Khleifat A, Naomi R. Wray, Tian Lin, Roger Pamphlett, Ellen A. Tsai, Alfredo Iacoangeli, Gijs H.P. Tazelaar, Robert D. Henderson, van Es Ma, Pamela J. Shaw, Annelot M. Dekker, Ammar Al-Chalabi, Pamela A. McCombe, Maura Brunetti, Merrilee Needham, Philippe Corcia, Karen A. Mather, Gemma Shireby, Jay P. Ross, Russell L. McLaughlin, Pasterkamp Rj, van Eijk Kr, Patrick A. Dion, Cristina Moglia, Perminder S. Sachdev, Fleur C. Garton
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with an estimated heritability of around 50%. DNA methylation patterns can serve as biomarkers of (past) exposures and disease progression, as well as providing a potential mech
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8556070cd9b1c1f5ac53e9116e951f3a
https://lirias.kuleuven.be/handle/20.500.12942/686780
https://lirias.kuleuven.be/handle/20.500.12942/686780
Autor:
D'Ovidio, F, Rooney, Jp, Visser, Ae, Manera, U, Beghi, E, Logroscino, G, Vermeulen, Rch, Veldink, Jh, van den Berg LH, Hardiman, O, Chiò, A, Zecca, C, Tortelli, R, Pupillo, E, Comi, G, Riva, N, Lunetta, C, Filosto, M, Sofia Cotelli, M, Rinaldi, F, Guaita, Mc, Perrone, P, Diamanti, L, Ferrarese, C, Tremolizzo, L, Maurizio Clerici, A, Mauri, M, Bono, G, Heverin, M, Vajda, A, O'Sullivan, M, Breen, N, Quinlan, E, Kirby, E, Kinsella, A, Madden, C, van der Kooi AJ, Raaphorst, J, Ge, C, Casale, F, Mazzini, L, Calvo, A, Canosa, A, Moglia, C, Bertuzzo, D, Bersano, E, Gerardi, F, Chiveri, L, Ceroni, M, Delodovici, Ml, Chiara, Z, Rosanna, T, Elisabetta, P, Giancarlo, C, Nilo, R, Christian, L, Massimiliano, F, Maria, Sc, Fabrizio, R, Maria, Cg, Patrizia, P, Luca, D, Carlo, F, Lucio, T, Angelo, Mc, Marco, M, Giorgio, B, Mark, H, Alice, V, Meabhdh, O, Nadia, B, Emma, Q, Emma, K, Anna, K, Caoifa, M, Anneke, Jvk, Joost, R, Calvin, G, Federico, C, Letizia, M, Andrea, C, Antonio, C, Cristina, M, Davide, B, Enrica, B.
Publikováno v:
Journal of neurology, neurosurgery, and psychiatry, 90(1), 11. BMJ Publishing Group
ObjectivesSeveral studies focused on the association between alcohol consumption and amyotrophic lateral sclerosis (ALS), although with inconsistent findings. Antioxidants may play a role since lyophilised red wine was found to prolong SOD1 mice life
Autor:
Coleman, A, McKinley, F, Gough, A, Wheatley, N, Xu, H, McKnight, AJ, Lambert, DM, Lynch, SA, Marron, R, Gray, D, Treacy, EP, Moore, RS, McConnell, V, Kelly, D, Das, S, Moran, B, Han, K, Mulligan, N, Barrett, C, Buckley, PG, Mc Mahon, P, McCaffrey, J, Van Essen, HF, Connor, K, Ylstra, B, Lambrechts, D, Gallagher, WM, O’Connor, DP, Kelly, CM, Dockery, A, Carrigan, M, Malone, C, Keegan, D, Stevenson, K, Silvestri, J, Green, A, McCourt, J, Humphries, P, Kenna, PF, Farrar, GJ, Smyth, LJ, Neville, CE, McKay, GJ, Maxwell, AP, Woodside, JV, McLaughlin, RL, Schijven, D, van Rheenen, W, van Eijk, KR, O’Brien, M, Kahn, R, Ophoff, RA, Goris, A, Bradley, DG, Al-Chalabi, A, van den Berg, LH, Luykx, JJ, Hardiman, O, Veldink, JH, Mackin, SJ, O’Neill, K, Irwin, R, Walsh, CP, Xu, M, Stattin, EL, Shaw, G, Heinegård, D, Sullivan, G, Wilmut, I, Colman, A, Önnerfjord, P, Khabut, A, Aspberg, A, Dockery, P, Hardingham, T, Murphy, M, Barry, F, Gilbert, E, Carmi, S, Ennis, S, Wilson, J.F., Cavalleri, G.L., McNerlan, S, Scott, J, O’Neill, T, Jager, D, Eustace-Ryan, S, Ryan, F, Barton, D, O’Dwyer, V, Neylan, D, Chemaly, M, Peace, A, Gibson, M, Clauss, M, Watterson, S, Bjourson, T, McGilligan, V, McVeigh, UM, McVeigh, TP., Owens, P, Morris, D, Miller, N, Lowery, AJ, Kerin, MJ, Goodman, R, Thompson, PD, Wingfield, B, Lapsley, CR, McDowell, A, McLafferty, M, Coleman, S, McGinnity, M, O’Neill, SM, Bjourson, Tony, Murray, EK, Rodriguez, EP, Doherty, D, O’Halloran, E, Conroy, J, Novak, M, Mulholland, C, Gallagher, L, McCormack, M, Heavin, S, Doherty, CP, Zhu, X, Heinzen, E, Goldstein, DB, Costello, D, Delanty, N, Cavalleri, GL, Stapleton, CP, Connaughton, DM, Conlon, PJ., Parton, A, O’Kane, M, Elwood, J, Sunnotel, O, Stockdale, DJ, Bjourson, AJ, Bell, AF, Sinclair, M, Lynch, SM, Ward, M, McNulty, H, Horigan, G, Strain, JJ, Purvis, J, Tackett, M, McKenna, DJ, Baldemor, S, Yankova, E, Barnard, E, McCafferty, D, Martin, L, Fairley, D, O’Rourke, D, Catherwood, M, Patrick, S, Conway, C, Stead, LS, Wood, HM, Rabbitts, PH, Maloney, DM, Chadderton, N, Millington-Ward, S, Flynn, M, Whitton, L, Cosgrove, D, Morrison, C, Walters, J, Rujescu, D, Corvin, A, Donohoe, G, Clarkson, C, Harold, D, Kendall, K, Richards, A, Mantripragada, K, Owen, MJ, O’Donovan, MC., Hartmann, A, Konte, B, Gill, M, Rea, S, Morris, DW, Harrison, A, Pentieva, K, Ozaki, M, Parle-McDermott, A, Hanlon, KS, Palfi, A, Nesbitt, H, Byrne, NM, Ming, L, Worthington, J, Errington, RJ, Patterson, LH, Smith, PJ, McKeown, SR, O’Neill, KM, McKenna, MM, Irwin, RE, Caffrey, A, Walsh, CP., Benson, KA, Sweeney, Michael, hIcí, Brónagh o, Feder, Ania, Barton, David E., Casey, Jill, Lynch, SallyAnn, McQuaid, Shirley, McElhatton, N
Publikováno v:
The Ulster Medical Journal
Behcet’s disease (BD) is a complex, multifactorial rare disease, which is poorly understood. Genetic and environmental factors contribute to BD, but the process of diagnosis is challenging with inconsistent clinical manifestations. A recent survey