Multiple sclerosis genomic map implicates peripheral immune cells and microglia in susceptibility

Autor: Patsopoulos, NA, Baranzini, SE, Santaniello, A, Shoostari, P, Cotsapas, C, Wong, G, Beecham, AH, James, T, Replogle, J, Vlachos, IS, McCabe, C, Pers, TH, Brandes, A, White, C, Keenan, B, Cimpean, M, Winn, P, Panteliadis, IP, Robbins, A, Andlauer, TFM, Zarzycki, O, Dubois, B, Goris, A, Sondergaard, HB, Sellebjerg, F, Sorensen, PS, Ullum, H, Thorner, LW, Saarela, J, Cournu-Rebeix, I, Damotte, V, Fontaine, B, Guillot-Noel, L, Lathrop, M, Vukusic, S, Berthele, A, Pongratz, V, Gasperi, C, Graetz, C, Grummel, V, Hemmer, B, Hoshi, M, Knier, B, Korn, T, Lill, CM, Luessi, F, Muhlau, M, Zipp, F, Dardiotis, E, Agliardi, C, Amoroso, A, Barizzone, N, Benedetti, MD, Bernardinelli, L, Cavalla, P, Clarelli, F, Comi, G, Cusi, D, Esposito, F, Ferre, L, Galimberti, D, Guaschino, C, Leone, MA, Martinelli, V, Moiola, L, Salvetti, M, Sorosina, M, Vecchio, D, Zauli, A, Santoro, S, Mancini, N, Zuccala, M, Mescheriakova, J, van Duijn, C, Bos, SD, Celius, EG, Spurkland, A, Comabella, M, Montalban, X, Alfredsson, L, Bomfim, IL, Gomez-Cabrero, D, Hillert, J, Jagodic, M, Linden, M, Piehl, F, Jelcic, I, Martin, R, Sospedra, M, Baker, A, Ban, M, Hawkins, C, Hysi, P, Kalra, S, Karpe, F, Khadake, J, Lachance, G, Molyneux, P, Neville, M, Thorpe, J, Bradshaw, E, Caillier, SJ, Calabresi, P, Cree, BAC, Cross, A, Davis, M, de Bakker, PWI, Delgado, S, Dembele, M, Edwards, K, Fitzgerald, K, Frohlich, IY, Gourraud, PA, Haines, JL, Hakonarson, H, Kimbrough, D, Isobe, N, Konidari, I, Lathi, E, Lee, MH, Li, T, An, D, Zimmer, A, Madireddy, L, Manrique, CP, Mitrovic, M, Olah, M, Patrick, E, Pericak-Vance, MA, Piccio, L, Schaefer, C, Weiner, H, Lage, K, Scott, RJ, Lechner-Scott, J, Leal, R, Moscato, P, Booth, DR, Stewart, GJ, Vucic, S, Pame, G, BamettO, M, Mason, D, GriffithS, L, Broadley, S, Tajouri, L, Baxter, A, Slee, M, Taylor, BV, Charlesworth, J, Kilpatrick, TJ, Rubio, J, Jokubaitis, V, Wiley, J, Butzkueven, H, Leslie, S, Motyer, A, Stankovich, J, Carroll, WM, Kermode, AG, Edrin, M, Barclay, M, Peyrin-Biroulet, L, Chamaillard, M, Colombe, JF, Cottone, M, Croft, A, D'Inca, R, Halfvarson, J, Hanigan, K, Henderson, P, Hugot, JP, Karban, A, Kennedy, NA, Khan, MA, Lemann, M, Levine, A, Massey, D, Milla, M, Motoey, GW, Ng, SME, Oikonomnou, J, Peeters, H, Proctor, DD, Rahier, JF, Roberts, R, Rutgeerts, P, Seibold, F, Stronati, L, Taylor, KM, Torkvist, L, Ublick, K, Van Limbergen, J, Van Gossum, A, Vatn, MH, Zhang, H, Zhang, W, Donnelly, P, Barroso, I, Blackwe, JM, Bramon, E, Brown, MA, Casas, JP, Corvin, A, Deloukas, P, Duncanson, A, Jankowski, J, Markus, HS, Mathew, CG, Palmer, CNA, Plomin, R, Rautanen, A, Sawcer, SJ, Trembath, RC, Viswanathan, AC, Wood, NW, Spencer, CCA, Band, G, Bellenguez, C, Freeman, C, Hellenthal, G, Giannoulatou, E, Pirinen, M, Pearson, R, Strange, A, Sul, Z, Vukcevic, DA, Langford, C, Hunt, SE, Edkins, S, Gwilliam, R, Blackburn, H, Bumpstead, SJ, Dronov, S, Gillman, M, Gray, E, Hammond, N, Jayakumar, A, McCann, OT, Liddle, J, Potter, SC, Ravindrarajah, R, Ricketts, M, Waller, M, Weston, P, Widaa, S, Whittaker, P, Compston, A, Hafler, D, Harbo, HF, Hauser, SL, Stewart, G, D'Alfonso, S, Hadjigeorgiou, G, Taylor, B, Barcellos, LF, Booth, D, Hintzen, R, Kockum, I, Martinelli-Boneschi, F, McCauley, JL, Oksenberg, JR, Oturai, A, Sawcer, S, Ivinson, AJ, Olsson, T, De Jager, PL

Publikováno v: Science, 365(6460):eaav7188, 1417-+. American Association for the Advancement of Science
Science

Genetic roots of multiple sclerosis The genetics underlying who develops multiple sclerosis (MS) have been difficult to work out. Examining more than 47,000 cases and 68,000 controls with multiple genome-wide association studies, the International Mu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94bb28899c26c0aa3a4abb4b13a1087c
http://ora.ox.ac.uk/objects/uuid:

Serum neurofilament light chain levels are increased in patients with a clinically isolated syndrome

Autor: Disanto, G1, Adiutori, R2, Dobson, R2, Martinelli, V3, Dalla Costa G3, Runia, T4, Evdoshenko, E5, Thouvenot, E6, Trojano, M7, Norgren, N8, Teunissen, C9, Kappos, L10, Giovannoni, G2, Kuhle, J, Bianchi, L, Topping, J, Bestwick, Jp, Meier, Uc, Lazareva, N, Iaffaldano, P, Direnzo, V, Khademi, M, Piehl, F, Comabella, M, Sombekke, M, Killestein, J, Hegen, H, Rauch, S, D'Alfonso, S, Alvarez-Cermeño, Jc, Kleinová, P, Horáková, D, Roesler, R, Lauda, F, Llufriu, S, Avsar, T, Uygunoglu, U, Altintas, A, Saip, S, Menge, T, Rajda, C, Bergamaschi, R, Moll, N, Khalil, M, Marignier, R, Dujmovic, I, Larsson, H, Malmestrom, C, Scarpini, E, Fenoglio, C, Wergeland, S, Laroni, A, Annibali, V, Romano, S, Martínez, Ad, Carra, A, Salvetti, M, Uccelli, A, Torkildsen, Ø, Myhr, Km, Galimberti, D, Rejdak, K, Lycke, J, Frederiksen, Jl, Drulovic, J, Confavreux, C, Brassat, D, Enzinger, C, Fuchs, S, Bosca, I, Pelletier, J, Picard, C, Colombo, E, Franciotta, D, Derfuss, T, Lindberg, Rl, Yaldizli, Ö, Vécsei, L, Kieseier, Bc, Hartung, Hp, Villoslada, P, Siva, A, Saiz, A, Tumani, H, Havrdová, E, Villar, Lm, Leone, M, Barizzone, N, Deisenhammer, F, Montalban, X, Tintoré, M, Olsson, T, Lehmann, S, Castelnovo, G, Lapin, S, Hintzen, R, Furlan, R, Comi, G, Ramagopalan, Sv.

Publikováno v: Disanto, G, Adiutori, R, Dobson, R, Martinelli, V, Costa, G D, Runia, T, Evdoshenko, E, Thouvenot, E, Trojano, M, Norgren, N, Teunissen, C, Kappos, L, Giovannoni, G & Kuhle, J 2016, ' Serum neurofilament light chain levels are increased in patients with a clinically isolated syndrome ', Journal of Neurology, Neurosurgery and Psychiatry, vol. 87, no. 2, pp. 126-129 . https://doi.org/10.1136/jnnp-2014-309690
Journal of Neurology, Neurosurgery and Psychiatry
Journal of Neurology, Neurosurgery and Psychiatry, BMJ Publishing Group, 2016, 87 (2), pp.126-9. ⟨10.1136/jnnp-2014-309690⟩
Journal of Neurology, Neurosurgery and Psychiatry, 87(2), 126-129. BMJ Publishing Group
Journal of Neurology Neurosurgery and Psychiatry, 87(2), 126-129. BMJ Publishing Group

International audience; BACKGROUND:Neurofilament light chain (NfL) represents a promising biomarker for axonal injury. We present the first exploratory study on serum NfL in patients with a clinically isolated syndrome (CIS) and healthy controls.METH

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04b59a87de239c8f54bc513dcd63945a
https://doi.org/10.1136/jnnp-2014-309690

Epstein-Barr-negative MS: a true phenomenon?

Autor: Dobson, Ruth, Kuhle, Jens, Middeldorp, Jaap, Giovannoni, Gavin, on behalf of the international CIS study investigators including Dalla Costa, G, Furlan, R, Martinelli, V, Comi, G, Runia, T, Hintzen, R, Evdoshenko, E, Lazareva, N, Lapin, S, Thouvenot, E, Lehmann, S, Castelnovo, G, Iaffaldano, P, Direnzo, V, Trojano, M, Khademi, . M, Piehl, F, Olsson, T, Comabella, M, Montalban, X, Tintoré, M, Sombekke, M, Killestein, J, Teunissen, C, Hegen, H, Deisenhammer, F, Rauch, S, D'Alfonso, S, Barizzone, N, Alvarez Cermeño, Jc, Villar, Lm, Kleinová, P, Horáková, D, Havrdová, E, Roesler, R, Lauda, F, Tumani, H, Llufriu, S, Villoslada, P, Saiz, A, Avsar, T, Uygunoglu, U, Altintas, A, Saip, S, Siva, A, Menge, T, Kieseier, Bc, Hartung, Hp, Rajda, C, Vécsei, L, Bergamaschi, R, Colombo, E, Franciotta, D, Moll, N, Pelletier, J, Picard, C, Khalil, M, Enzinger, C, Fuchs, S, Marignier, R, Confavreux, C, Dujmovic, I, Drulovic, J, Larsson, H, Malmestrom, C, Lycke, J, Scarpini, E, C. Fenoglio, C, Galimberti, D, Wergeland, S, Torkildsen, Ø, Myhr, Km, Laroni, Alice, Uccelli, Antonio, Annibali, V, Romano, S, Salvetti, M, Martínez, Ad, Carra, A, Rejdak, K, Frederiksen, Jl, Brassat, D, Bosca, I, Casanova, B, Derfuss, T, Lindberg, R, Yaldizli, Ö, Kappos, L, Leone, M.

Publikováno v: Neurology® Neuroimmunology & Neuroinflammation
Neurology neuroimmunology & neuroinflammation, 4(2). Lippincott Williams and Wilkins
Dobson, R, Kuhle, J, Middeldorp, J & Giovannoni, G 2017, ' Epstein-Barr-negative MS : a true phenomenon? ', Neurology neuroimmunology & neuroinflammation, vol. 4, no. 2, pp. e318 . https://doi.org/10.1212/NXI.0000000000000318

This work was supported by institutional funding and in part by the BMBF grant KKNMS (Competence Net Multiple Sclerosis) to H Tumani.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8bf7ba350b8e6dfd43ae14df20e41f5b
http://hdl.handle.net/11567/859809

Inverse correlation of genetic risk score with age at onset in bout-onset and progressive-onset multiple sclerosis

Autor: Sorosina M, Esposito F, Guaschino C, Clarelli F, Barizzone N, Osiceanu AM, Brambilla P, Mascia E, Cavalla P, Gallo P, PROGRESSO, PROGEMUS, Martinelli V, Leone M, COMI , GIANCARLO, D'Alfonso S, Martinelli Boneschi F.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_____10495::8d92cef1e5a6a36582773879a86e17a9

Multiple sclerosis progression is not associated with birth timing in Italy

Autor: Lucenti A, Galimberti S, Barizzone N, Naldi P, Comi G, Martinelli Boneschi F, D'Alfonso S, Leone MA, Radaelli M

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_____10495::9cc10093fb449badcb54415720f88be3