المؤلفون: Calì, E, Lin, SJ, Rocca, C, Sahin, Y, Al Shamsi, A, El Chehadeh, S, Chaabouni, M, Mankad, K, Galanaki, E, Efthymiou, S, Sudhakar, S, Athanasiou-Fragkouli, A, Çelik, T, Narlı, N, Bianca, S, Murphy, D, De Carvalho Moreira, FM, Hannah, MG, Bugiardini, E, Kriouile, Y, El Khorassani, M, Aguennouz, M, Groppa, S, Karashova, BM, Di Rosa, G, Goraya, JS, Sultan, T, Avdjieva, D, Kathom, H, Tincheva, R, Banu, S, Veggiotti, P, Verrotti, A, Savasta, S, Ruiz, AM, Garavaglia, B, Borgione, E, Papacostas, S, Compagnoni, C, Piccirilli, A, Vikelis, M, Chelban, V, Kaiyrzhanov, R, Cortese, A, Sullivan, R, Papanicolaou, EZ, Dardiotis, E, Maqbool, S, Ibrahim, S, Kirmani, S, Rana, NN, Atawneh, O, Lim, SY, Shaikh, F, Scardamaglia, A, Koutsis, G, Mangano, S, Scuderi, C, Morello, G, Zollo, M, Heimer, G, Striano, P, Al-Khawaja, I, Al-Mutairi, F, Alkuraya, FS, Rizig, M, Shashkin, C, Zharkynbekova, N, Koneyev, K, Manizha, G, Isrofilov, M, Guliyeva, U, Salayev, K, Khachatryan, S, Xiromerisiou, G, Spanaki, C, Tucci, A, Fiorillo, C, Rissotto, F, Munell, F, Gagliano, A, Jan, F, Chimenz, R, Gitto, E, Cuppari, C, Romeo, C, Magrinelli, F, Gupta, N, Kabra, M, Benrhouma, H, Tazir, M, Zagaroli, L, Caloisi, C, Fabiano, C, Bottone, G, Farello, G, Di Fabio, S, Obeid, M, Bakhtadze, S, Saadi, NW

المصدر: Genetics in Medicine (2022) (In press).

مصطلحات موضوعية: Human mediator complex, MED11, MEDopathies

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10155099/1/Rizig_A%20homozygous%20MED11%20C-terminal%20variant%20causes%20a%20lethal%20neurodegenerative%20disease_VoR.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10155099Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10155099/1/Rizig_A%20homozygous%20MED11%20C-terminal%20variant%20causes%20a%20lethal%20neurodegenerative%20disease_VoR.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10155099Test/

المؤلفون: Chelban V(1)(2), Wilson MP(3), Warman Chardon J(4)(5)(6), Vandrovcova J(1), Zanetti MN(7), Zamba-Papanicolaou E(8)(9), Efthymiou S(1), Pope S(10), Conte MR(11), Abis G(11), Liu YT(12)(13)(14), Tribollet E(1), Haridy NA(1)(15), Botía JA(16)(17), Ryten M(16)(18), Nicolaou P(8)(9), Minaidou A(8)(9), Christodoulou K(8)(9), Kernohan KD(6)(19), Eaton A(6), Osmond M(6), Ito Y(6), Bourque P(4)(5), Jepson JEC(7), Bello O(7), Bremner F(20), Cordivari C(21), Reilly MM(1), Foiani M(21)(22), Heslegrave A(22)(23), Zetterberg H(22)(23)(24)(25), Heales SJR(10), Wood NW(1)(26), Rothman JE(7)(27), Boycott KM(6), Mills PB(3), Clayton PT(3), Houlden H(1)(26), Care4Rare Canada Consortium and the SYNaPS Study Group(6). Collaborators: Kriouile Y, Khorassani ME, Aguennouz M, Groppa S, Marinova Karashova B, Van Maldergem L, Nachbauer W, Boesch S, Arning L, Timmann D, Cormand B, Pérez-Dueñas B, Di Rosa G, Goraya JS, Sultan T, Mine J, Avdjieva D, Kathom H, Tincheva R, Banu S, Pineda-Marfa M, Veggiotti P, Ferrari MD, van den Maagdenberg AMJM, Verrotti A, Marseglia G, Savasta S, García-Silva M, Ruiz AM, Garavaglia B, Borgione E, Portaro S, Sanchez BM, Boles R, Papacostas S, Vikelis M, Rothman J, Giunti P, Houlden H, Chelban V, Salpietro V, Oconnor E, Efthymiou S, Kullmann D, Kaiyrzhanov R, Sullivan R, Khan AM, Yau WY, Hostettler I, Papanicolaou EZ, Dardiotis E, Maqbool S, Ibrahim S, Kirmani S, Rana NN, Atawneh O, Lim SY, Shaikh F, Koutsis G, Breza M, Mangano S, Scuderi C, Morello G, Stojkovic T, Torti E, Zollo M, Heimer G, Dauvilliers YA, Striano P, Al-Khawaja I, Al-Mutairi F, Alkuraya FS, Sherifa H, Rizig M, Okubadejo NU, Ojo OO, Oshinaike OO, Wahab K, Bello AH, Abubakar S, Obiabo Y, Nwazor E, Ekenze O, Williams U, Iyagba A, Taiwo L, Komolafe M, Oguntunde O, Pchelina S, Senkevich K, Haridy N, Shashkin C, Zharkynbekova N, Koneyev K, Manizha G, Isrofilov M, Guliyeva U, Salayev K, Khachatryan S, Rossi S, Silvestri G, Bourinaris T, Xiromerisiou G, Fidani L, Spanaki C, Tucci A.

المساهمون: Chelban, V(1)(2), Wilson, MP(3), Warman Chardon, J(4)(5)(6), Vandrovcova, J(1), Zanetti, MN(7), Zamba-Papanicolaou, E(8)(9), Efthymiou, S(1), Pope, S(10), Conte, MR(11), Abis, G(11), Liu, YT(12)(13)(14), Tribollet, E(1), Haridy, NA(1)(15), Botía, JA(16)(17), Ryten, M(16)(18), Nicolaou, P(8)(9), Minaidou, A(8)(9), Christodoulou, K(8)(9), Kernohan, KD(6)(19), Eaton, A(6), Osmond, M(6), Ito, Y(6), Bourque, P(4)(5), Jepson, JEC(7), Bello, O(7), Bremner, F(20), Cordivari, C(21), Reilly, MM(1), Foiani, M(21)(22), Heslegrave, A(22)(23), Zetterberg, H(22)(23)(24)(25), Heales, SJR(10), Wood, NW(1)(26), Rothman, JE(7)(27), Boycott, KM(6), Mills, PB(3), Clayton, PT(3), Houlden, H(1)(26), Care4Rare Canada Consortium and the SYNaPS Study Group(6)., Collaborators: Kriouile Y, Khorassani, Me, Aguennouz, M, Groppa, S, Marinova Karashova, B, Van Maldergem, L, Nachbauer, W, Boesch, S, Arning, L, Timmann, D, Cormand, B, Pérez-Dueñas, B, Di Rosa, G, Goraya, J, Sultan, T, Mine, J, Avdjieva, D, Kathom, H, Tincheva, R, Banu, S, Pineda-Marfa, M, Veggiotti, P, Ferrari, Md, van den Maagdenberg, Amjm, Verrotti, A, Marseglia, G, Savasta, S, García-Silva, M, Ruiz, Am, Garavaglia, B, Borgione, E, Portaro, S, Sanchez, Bm, Boles, R, Papacostas, S, Vikelis, M, Rothman, J, Giunti, P, Houlden, H, Chelban, V, Salpietro, V, Oconnor, E, Efthymiou, S, Kullmann, D, Kaiyrzhanov, R, Sullivan, R, Khan, Am, Yau, Wy, Hostettler, I, Papanicolaou, Ez, Dardiotis, E, Maqbool, S, Ibrahim, S, Kirmani, S, Rana, Nn, Atawneh, O, Lim, Sy, Shaikh, F, Koutsis, G, Breza, M, Mangano, S, Scuderi, C

مصطلحات موضوعية: CHARCOT-MARIE-TOOTH, CMT NEUROPATHY SCORE, LOCAL TRANSLATION, DISEASE, RELIABILITY, MECHANISMS, DISCOVERY, FRAMEWORK, KINASE, PLASMA

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31187503; info:eu-repo/semantics/altIdentifier/wos/WOS:000473919500001; volume:86; issue:2; firstpage:225; lastpage:240; numberofpages:16; journal:ANNALS OF NEUROLOGY; http://hdl.handle.net/11570/3161942Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85068354982; wileyonlinelibrary.com

الإتاحة: https://doi.org/10.1002/ana.25524Test
http://hdl.handle.net/11570/3161942Test