Zobrazeno 1 - 10
of 478
pro vyhledávání: '"Valente EM"'
Autor:
Balint, B, Mencacci, Ne, Valente, Em, Pisani, A, Rothwell, J, Jankovic, J, Vidailhet, M, Bhatia, Kp
Publikováno v:
Nature Reviews Disease Primers. 4
Autor:
Klionsky, Dj, Abdelmohsen, K, Abe, A, Abedin, Mj, Abeliovich, H, Acevedo Arozena, A, Adachi, H, Adams, Cm, Adams, Pd, Adeli, K, Adhihetty, Pj, Adler, Sg, Agam, G, Agarwal, R, Aghi, Mk, Agnello, M, Agostinis, P, Aguilar, Pv, Aguirre-Ghiso, J, Airoldi, Em, Ait-Si-Ali, S, Akematsu, T, Akporiaye, Et, Al-Rubeai, M, Albaiceta, Gm, Albanese, C, Albani, D, Albert, Ml, Aldudo, J, Algül, H, Alirezaei, M, Alloza, I, Almasan, A, Almonte-Beceril, M, Alnemri, Es, Alonso, C, Altan-Bonnet, N, Altieri, Dc, Alvarez, S, Alvarez-Erviti, L, Alves, S, Amadoro, G, Amano, A, Amantini, C, Ambrosio, S, Amelio, I, Amer, Ao, Amessou, M, Amon, A, An, Z, Anania, Fa, Andersen, Su, Andley, Up, Andreadi, Ck, Andrieu-Abadie, N, Anel, A, Ann, Dk, Anoopkumar-Dukie, S, Antonioli, M, Aoki, H, Apostolova, N, Aquila, S, Aquilano, K, Araki, K, Arama, E, Aranda, A, Araya, J, Arcaro, A, Arias, E, Arimoto, H, Ariosa, Ar, Armstrong, Jl, Arnould, T, Arsov, I, Asanuma, K, Askanas, V, Asselin, E, Atarashi, R, Atherton, Ss, Atkin, Jd, Attardi, Ld, Auberger, P, Auburger, G, Aurelian, L, Autelli, R, Avagliano, L, Avantaggiati, Ml, Avrahami, L, Awale, S, Azad, N, Bachetti, Tiziana, Backer, Jm, Bae, Dh, Bae, Js, Bae, On, Bae, Sh, Baehrecke, Eh, Baek, Sh, Baghdiguian, S, Bagniewska-Zadworna, A, Bai, H, Bai, J, Bai, Xy, Bailly, Y, Balaji, Kn, Balduini, W, Ballabio, A, Balzan, R, Banerjee, R, Bánhegyi, G, Bao, H, Barbeau, B, Barrachina, Md, Barreiro, E, Bartel, B, Bartolomé, A, Bassham, Dc, Bassi, Mt, Bast RC Jr, Basu, A, Batista, Mt, Batoko, H, Battino, M, Bauckman, K, Baumgarner, Bl, Bayer, Ku, Beale, R, Beaulieu, Jf, Beck GR Jr, Becker, C, Beckham, Jd, Bédard, Pa, Bednarski, Pj, Begley, Tj, Behl, C, Behrends, C, Behrens, Gm, Behrns, Ke, Bejarano, E, Belaid, A, Belleudi, F, Bénard, G, Berchem, G, Bergamaschi, D, Bergami, M, Berkhout, B, Berliocchi, L, Bernard, A, Bernard, M, Bernassola, F, Bertolotti, A, Bess, As, Besteiro, S, Bettuzzi, S, Bhalla, S, Bhattacharyya, S, Bhutia, Sk, Biagosch, C, Bianchi, Mw, Biard-Piechaczyk, M, Billes, V, Bincoletto, C, Bingol, B, Bird, Sw, Bitoun, M, Bjedov, I, Blackstone, C, Blanc, L, Blanco, Ga, Blomhoff, Hk, Boada-Romero, E, Böckler, S, Boes, M, Boesze-Battaglia, K, Boise, Lh, Bolino, A, Boman, A, Bonaldo, P, Bordi, M, Bosch, J, Botana, Lm, Botti, J, Bou, G, Bouché, M, Bouchecareilh, M, Boucher, Mj, Boulton, Me, Bouret, Sg, Boya, P, Boyer-Guittaut, M, Bozhkov, Pv, Brady, N, Braga, Vm, Brancolini, C, Braus, Gh, Bravo-San Pedro JM, Brennan, La, Bresnick, Eh, Brest, P, Bridges, D, Bringer, Ma, Brini, M, Brito, Gc, Brodin, B, Brookes, Ps, Brown, Ej, Brown, K, Broxmeyer, He, Bruhat, A, Brum, Pc, Brumell, Jh, Brunetti-Pierri, N, Bryson-Richardson, Rj, Buch, S, Buchan, Am, Budak, H, Bulavin, Dv, Bultman, Sj, Bultynck, G, Bumbasirevic, V, Burelle, Y, Burke, Re, Burmeister, M, Bütikofer, P, Caberlotto, L, Cadwell, K, Cahova, M, Cai, D, Cai, J, Cai, Q, Calatayud, S, Camougrand, N, Campanella, M, Campbell, Gr, Campbell, M, Campello, S, Candau, R, Caniggia, I, 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Chieppa, M, Chin, Ls, Chiong, M, Chiu, Gn, Cho, Dh, Cho, Sg, Cho, Wc, Cho, Yy, Cho, Ys, Choi, Am, Choi, Ej, Choi, Ek, Choi, J, Choi, Me, Choi, Si, Chou, Tf, Chouaib, S, Choubey, D, Choubey, V, Chow, Kc, Chowdhury, K, Chu, Ct, Chuang, Th, Chun, T, Chung, H, Chung, T, Chung, Yl, Chwae, Yj, Cianfanelli, V, Ciarcia, R, Ciechomska, Ia, Ciriolo, Mr, Cirone, M, Claerhout, S, Clague, Mj, Clària, J, Clarke, Pg, Clarke, R, Clementi, E, Cleyrat, C, Cnop, M, Coccia, Em, Cocco, T, Codogno, P, Coers, J, Cohen, Ee, Colecchia, D, Coletto, L, Coll, Ns, Colucci-Guyon, E, Comincini, S, Condello, M, Cook, Kl, Coombs, Gh, Cooper, Cd, Cooper, Jm, Coppens, I, Corasaniti, Mt, Corazzari, M, Corbalan, R, Corcelle-Termeau, E, Cordero, Md, Corral-Ramos, C, Corti, O, Cossarizza, A, Costelli, P, Costes, S, Cotman, Sl, Coto-Montes, A, Cottet, S, Couve, E, Covey, Lr, Cowart, La, Cox, Js, Coxon, Fp, Coyne, Cb, Cragg, Ms, Craven, Rj, Crepaldi, T, Crespo, Jl, Criollo, A, Crippa, V, Cruz, Mt, Cuervo, Am, Cuezva, Jm, Cui, T, Cutillas, Pr, Czaja, Mj, Czyzyk-Krzeska, Mf, Dagda, Rk, Dahmen, U, Dai, C, Dai, W, Dai, Y, Dalby, Kn, Dalla Valle, L, Dalmasso, G, D'Amelio, M, Damme, M, Darfeuille-Michaud, A, Dargemont, C, Darley-Usmar, Vm, Dasarathy, S, Dasgupta, B, Dash, S, Dass, Cr, Davey, Hm, Davids, Lm, Dávila, D, Davis, Rj, Dawson, Tm, Dawson, Vl, Daza, P, de Belleroche, J, de Figueiredo, P, de Figueiredo RC, de la Fuente, J, De Martino, L, De Matteis, A, De Meyer GR, De Milito, A, De Santi, M, de Souza, W, De Tata, V, De Zio, D, Debnath, J, Dechant, R, Decuypere, Jp, Deegan, S, Dehay, B, Del Bello, B, Del Re DP, Delage-Mourroux, R, Delbridge, Lm, Deldicque, L, Delorme-Axford, E, Deng, Y, Dengjel, J, Denizot, M, Dent, P, Der, Cj, Deretic, V, Derrien, B, Deutsch, E, Devarenne, Tp, Devenish, Rj, Di Bartolomeo, S, Di Daniele, N, Di Domenico, F, Di Nardo, A, Di Paola, S, Di Pietro, A, Di Renzo, L, Diantonio, A, Díaz-Araya, G, Díaz-Laviada, I, Diaz-Meco, Mt, Diaz-Nido, J, Dickey, Ca, Dickson, Rc, Diederich, M, Digard, P, Dikic, I, Dinesh-Kumar, Sp, Ding, C, Ding, Wx, Ding, Z, Dini, L, Distler, Jh, Diwan, A, Djavaheri-Mergny, M, Dmytruk, K, Dobson, Rc, Doetsch, V, Dokladny, K, Dokudovskaya, S, Donadelli, M, Dong, Xc, Dong, X, Dong, Z, Donohue TM Jr, Doran, Ks, D'Orazi, G, Dorn GW 2nd, Dosenko, V, Dridi, S, Drucker, L, Du, J, Du, Ll, Du, L, du Toit, A, Dua, P, Duan, L, Duann, P, Dubey, Vk, Duchen, Mr, Duchosal, Ma, Duez, H, Dugail, I, Dumit, Vi, Duncan, Mc, Dunlop, Ea, Dunn WA Jr, Dupont, N, Dupuis, L, Durán, Rv, Durcan, Tm, Duvezin-Caubet, S, Duvvuri, U, Eapen, V, Ebrahimi-Fakhari, D, Echard, A, Eckhart, L, Edelstein, Cl, Edinger, Al, Eichinger, L, Eisenberg, T, Eisenberg-Lerner, A, Eissa, Nt, El-Deiry, Ws, El-Khoury, V, Elazar, Z, Eldar-Finkelman, H, Elliott, Cj, Emanuele, E, Emmenegger, U, Engedal, N, Engelbrecht, Am, Engelender, S, Enserink, Jm, Erdmann, R, Erenpreisa, J, Eri, R, Eriksen, Jl, Erman, A, Escalante, R, Eskelinen, El, Espert, L, Esteban-Martínez, L, Evans, Tj, Fabri, M, Fabrias, G, Fabrizi, C, Facchiano, A, Færgeman, Nj, Faggioni, A, Fairlie, Wd, Fan, C, Fan, D, Fan, J, Fang, S, Fanto, M, Fanzani, A, Farkas, T, Faure, M, Favier, Fb, Fearnhead, H, Federici, M, Fei, E, Felizardo, Tc, Feng, H, Feng, Y, Ferguson, Ta, Fernández, Áf, Fernandez-Barrena, Mg, Fernandez-Checa, Jc, Fernández-López, A, Fernandez-Zapico, Me, Feron, O, Ferraro, E, Ferreira-Halder, Cv, Fesus, L, Feuer, R, Fiesel, Fc, Filippi-Chiela, Ec, Filomeni, G, Fimia, Gm, Fingert, Jh, Finkbeiner, S, Finkel, T, Fiorito, F, Fisher, Pb, Flajolet, M, Flamigni, F, Florey, O, Florio, S, Floto, Ra, Folini, M, Follo, C, Fon, Ea, Fornai, F, Fortunato, F, Fraldi, A, Franco, R, Francois, A, François, A, Frankel, Lb, Fraser, Id, Frey, N, Freyssenet, Dg, Frezza, C, Friedman, Sl, Frigo, De, Fu, D, Fuentes, Jm, Fueyo, J, Fujitani, Y, Fujiwara, Y, Fujiya, M, Fukuda, M, Fulda, S, Fusco, C, Gabryel, B, Gaestel, M, Gailly, P, Gajewska, M, Galadari, S, Galili, G, Galindo, I, Galindo, Mf, Galliciotti, G, Galluzzi, L, Galy, V, Gammoh, N, Gandy, S, Ganesan, Ak, Ganesan, S, Ganley, Ig, Gannagé, M, Gao, Fb, Gao, F, Gao, Jx, García Nannig, L, García Véscovi, E, Garcia-Macía, M, Garcia-Ruiz, C, Garg, Ad, Garg, Pk, Gargini, R, Gassen, Nc, Gatica, D, Gatti, E, Gavard, J, Gavathiotis, E, Ge, L, Ge, P, Ge, S, Gean, Pw, Gelmetti, V, Genazzani, Aa, Geng, J, Genschik, P, Gerner, L, Gestwicki, Je, Gewirtz, Da, Ghavami, S, Ghigo, E, Ghosh, D, Giammarioli, Am, Giampieri, F, Giampietri, C, Giatromanolaki, A, Gibbings, Dj, Gibellini, L, Gibson, Sb, Ginet, V, Giordano, A, Giorgini, F, Giovannetti, E, Girardin, Se, Gispert, S, Giuliano, S, Gladson, Cl, Glavic, A, Gleave, M, Godefroy, N, Gogal RM Jr, Gokulan, K, Goldman, Gh, Goletti, D, Goligorsky, Ms, Gomes, Av, Gomes, Lc, Gomez, H, Gomez-Manzano, C, Gómez-Sánchez, R, Gonçalves, Da, Goncu, E, Gong, Q, Gongora, C, Gonzalez, Cb, Gonzalez-Alegre, P, Gonzalez-Cabo, P, González-Polo, Ra, Goping, Is, Gorbea, C, Gorbunov, Nv, Goring, Dr, Gorman, Am, Gorski, Sm, Goruppi, S, Goto-Yamada, S, Gotor, C, Gottlieb, Ra, Gozes, I, Gozuacik, D, Graba, Y, Graef, M, Granato, Ge, Grant, Gd, Grant, S, Gravina, Gl, Green, Dr, Greenhough, A, Greenwood, Mt, Grimaldi, B, Gros, F, Grose, C, Groulx, Jf, Gruber, F, Grumati, P, Grune, T, Guan, Jl, Guan, Kl, Guerra, B, Guillen, C, Gulshan, K, Gunst, J, Guo, C, Guo, L, Guo, M, Guo, W, Guo, Xg, Gust, Aa, Gustafsson, Åb, Gutierrez, E, Gutierrez, Mg, Gwak, Hs, Haas, A, Haber, Je, Hadano, S, Hagedorn, M, Hahn, Dr, Halayko, Aj, Hamacher-Brady, A, Hamada, K, Hamai, A, Hamann, A, Hamasaki, M, Hamer, I, Hamid, Q, Hammond, Em, Han, F, Han, W, Handa, Jt, Hanover, Ja, Hansen, M, Harada, M, Harhaji-Trajkovic, L, Harper, Jw, Harrath, Ah, Harris, Al, Harris, J, Hasler, U, Hasselblatt, P, Hasui, K, Hawley, Rg, Hawley, Ts, He, C, He, Cy, He, F, He, G, He, Rr, He, Xh, He, Yw, He, Yy, Heath, Jk, Hébert, Mj, Heinzen, Ra, Helgason, Gv, Hensel, M, Henske, Ep, Her, C, Herman, Pk, Hernández, A, Hernandez, C, Hernández-Tiedra, S, Hetz, C, 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C, Khambu, B, Khan, Mm, Khandelwal, Vk, Khare, S, Kiang, Jg, Kiger, Aa, Kihara, A, Kim, Al, Kim, Ch, Kim, Dr, Kim, Dh, Kim, Ek, Kim, Hy, Kim, Hr, Kim, Js, Kim, Jh, Kim, Jc, Kim, Kw, Kim, Md, Kim, Mm, Kim, Pk, Kim, Sw, Kim, Sy, Kim, Ys, Kim, Y, Kimchi, A, Kimmelman, Ac, Kimura, T, King, Js, Kirkegaard, K, Kirkin, V, Kirshenbaum, La, Kishi, S, Kitajima, Y, Kitamoto, K, Kitaoka, Y, Kitazato, K, Kley, Ra, Klimecki, Wt, Klinkenberg, M, Klucken, J, Knævelsrud, H, Knecht, E, Knuppertz, L, Ko, Jl, Kobayashi, S, Koch, Jc, Koechlin-Ramonatxo, C, Koenig, U, Koh, Yh, Köhler, K, Kohlwein, Sd, Koike, M, Komatsu, M, Kominami, E, Kong, D, Kong, Hj, Konstantakou, Eg, Kopp, Bt, Korcsmaros, T, Korhonen, L, Korolchuk, Vi, Koshkina, Nv, Kou, Y, Koukourakis, Mi, Koumenis, C, Kovács, Al, Kovács, T, Kovacs, Wj, Koya, D, Kraft, C, Krainc, D, Kramer, H, Kravic-Stevovic, T, Krek, W, Kretz-Remy, C, Krick, R, Krishnamurthy, M, Kriston-Vizi, J, Kroemer, G, Kruer, Mc, Kruger, R, Ktistakis, Nt, Kuchitsu, K, Kuhn, C, 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Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3710::fe2503b0930a5a4c0cc38809e6a16603
http://hdl.handle.net/11567/932908
http://hdl.handle.net/11567/932908
Autor:
Hallett, M, Evinger, C, Jankovic, J, Stacy, M, BEBRF International WorkshopAli, M, Berardelli, Alfredo, Daroff, Rb, Defazio, G, Delong, M, Eidelberg, D, Foote, K, Hattori, N, Katz, B, Nguyen, Qt, Lehericy, S, Meunier, S, Morecraft, Rj, Ozelius, Lj, Patrinely, Jr, Peckham, E, Perl, Dp, Perlmutter, Js, Scott, Ab, Singleton, A, Tolosa, E, Valente, Em, Valls Solé, J, Wang, J. J.
Publikováno v:
Neurology. 71:1275-1282
This review updates understanding and research on blepharospasm, a subtype of focal dystonia. Topics covered include clinical aspects, pathology, pathophysiology, animal models, dry eye, photophobia, epidemiology, genetics, and treatment. Blepharospa
Autor:
Valente EM, Dallapiccola B, Bertini E / O. Dulac, M. Lassonde, and H.B. Sarnat, Editors, Valente EM, Dallapiccola B, Bertini E / O. Dulac, M. Lassonde, H.B. Sarnat, Editors
Publikováno v:
Chapter 193 - Joubert syndrome and related disorders..
Autor:
Wang, L, Aasly, J, Annesi, G, Bardien, S, Bozi, M, Brice, A, Carr, J, Chung, S, Clarke, C, Crosiers, D, Deutschländer, A, Eckstein, G, Farrer, M, Goldwurm, S, Garraux, G, Hadjigeorgiou, G, Hicks, A, Hattori, N, Klein, C, Jeon, B, Kim, Y, Lesage, S, Lin, J, Lynch, T, Lichtner, P, Lang, A, Mok, V, Jasinska-Myga, B, Mellick, G, Morrison, K, Opala, G, Pihlstrøm, L, Pramstaller, P, Park, S, Quattrone, A, Rogaeva, E, Ross, O, Stefanis, L, Stockton, J, Silburn, P, Theuns, J, Tan, E, Tomiyama, H, Toft, M, Van Broeckhoven, C, Uitti, R, Wirdefeldt, K, Wszolek, Z, Xiromerisiou, G, Yueh, K, Zhao, Y, Gasser, T, Maraganore, D, Krüger, R, Sharma, M, Boyle, RS, Sellbach, A, O'Sullivan, JD, Sutherland, GT, Siebert, GA, Dissanayaka, NN, Pickut, B, Engelborghs, S, Meeus, B, De Deyn, PP, Cras, P, Lang, AE, Tzourio, C, Amouyel, P, Loriot, MA, Mutez, E, Duflot, A, Legendre, JP, Waucquier, N, Riess, O, Berg, D, Schulte, C, Djarmati, A, Hagenah, J, Lohman, K, Auburger, G, Hilker, R, van de Loo, S, Dardiotis, E, Tsimourtou, V, Ralli, S, Kountra, P, Patramani, G, Vogiatzi, C, Funayama, M, Yoshino, H, Li, Y, Imamichi, Y, Toda, T, Satake, W, Valente, EM, Ferraris, A, Dallapiccola, B, Ialongo, T, Brighina, L, Corradi, B, Ferrarese, C, Piolti, MR, Tarantino, P, Annesi, F, Gagliardi, M, Jeon, BS, Klodowska-Duda, G, Boczarska-Jedynak, M, Tan, EK, Belin, AC, Olson, L, Galter, D, Westerlund, M, Sydow, O, Nilsson, C, Puschmann, A, Lin, JJ, Maraganore, DM, Ahlskog, J, de Andrade, M, Lesnick, TG, Rocca, WA, Checkowa, H, Ross, OA, Wszolek, ZK, Uitti, RJ
Publikováno v:
Neurology
Neurology (2015). doi:10.1212/WNL.0000000000002016
info:cnr-pdr/source/autori:Wang L1, Aasly JO1, Annesi G1, Bardien S1, Bozi M1, Brice A1, Carr J1, Chung SJ1, Clarke C1, Crosiers D1, Deutschländer A1, Eckstein G1, Farrer MJ1, Goldwurm S1, Garraux G1, Hadjigeorgiou GM1, Hicks AA1, Hattori N1, Klein C1, Jeon B1, Kim YJ1, Lesage S1, Lin JJ1, Lynch T1, Lichtner P1, Lang AE1, Mok V1, Jasinska-Myga B1, Mellick GD1, Morrison KE1, Opala G1, Pihlstrøm L1, Pramstaller PP1, Park SS1, Quattrone A1, Rogaeva E1, Ross OA1, Stefanis L1, Stockton JD1, Silburn PA1, Theuns J1, Tan EK1, Tomiyama H1, Toft M1, Van Broeckhoven C1, Uitti RJ1, Wirdefeldt K1, Wszolek Z1, Xiromerisiou G1, Yueh KC1, Zhao Y1, Gasser T1, Maraganore DM1, Krüger R1, Sharma M2; GEO-PD Consortium/titolo:Large-scale assessment of polyglutamine repeat expansions in Parkinson disease/doi:10.1212%2FWNL.0000000000002016/rivista:Neurology/anno:2015/pagina_da:/pagina_a:/intervallo_pagine:/volume
ResearcherID
Neurology (2015). doi:10.1212/WNL.0000000000002016
info:cnr-pdr/source/autori:Wang L1, Aasly JO1, Annesi G1, Bardien S1, Bozi M1, Brice A1, Carr J1, Chung SJ1, Clarke C1, Crosiers D1, Deutschländer A1, Eckstein G1, Farrer MJ1, Goldwurm S1, Garraux G1, Hadjigeorgiou GM1, Hicks AA1, Hattori N1, Klein C1, Jeon B1, Kim YJ1, Lesage S1, Lin JJ1, Lynch T1, Lichtner P1, Lang AE1, Mok V1, Jasinska-Myga B1, Mellick GD1, Morrison KE1, Opala G1, Pihlstrøm L1, Pramstaller PP1, Park SS1, Quattrone A1, Rogaeva E1, Ross OA1, Stefanis L1, Stockton JD1, Silburn PA1, Theuns J1, Tan EK1, Tomiyama H1, Toft M1, Van Broeckhoven C1, Uitti RJ1, Wirdefeldt K1, Wszolek Z1, Xiromerisiou G1, Yueh KC1, Zhao Y1, Gasser T1, Maraganore DM1, Krüger R1, Sharma M2; GEO-PD Consortium/titolo:Large-scale assessment of polyglutamine repeat expansions in Parkinson disease/doi:10.1212%2FWNL.0000000000002016/rivista:Neurology/anno:2015/pagina_da:/pagina_a:/intervallo_pagine:/volume
ResearcherID
Objectives: We aim to clarify the pathogenic role of intermediate size repeat expansions of SCA2, SCA3, SCA6, and SCA17 as risk factors for idiopathic Parkinson disease (PD). Methods: We invited researchers from the Genetic Epidemiology of Parkinson9
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3b0fe39026c7bfeb5ea42ba83a45644
https://doi.org/10.1212/wnl.0000000000002016
https://doi.org/10.1212/wnl.0000000000002016
Parkinson Disease (PD) is a common neurodegenerative disorder of intricate etiology, caused by progressive loss of aminergic neurons and accumulation of Lewy bodies. The predominant role of genetics in the etiology of the disease has emerged since th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bbe8c31c3fca9ed1f7a29a612d580af4
http://hdl.handle.net/11573/1383072
http://hdl.handle.net/11573/1383072
Akademický článek
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Publikováno v:
Lancet Neurol.
Autor:
Kojovic, M, Pareés, I, Lampreia, T, Pienczk-Reclawowicz, K, Xiromerisiou, G, Rubio-Agusti, I, Kramberger, M, Carecchio, M, Alazami, Am, Brancati, F, Slawek, J, Pirtosek, Z, Valente, Em, Alkuraya, Fs, Edwards, Mj, Bhatia, Kp.
The syndrome of deafness-dystonia is rare and refers to the association of hearing impairment and dystonia when these are dominant features of a disease. Known genetic causes include Mohr-Tranebjaerg syndrome, Woodhouse-Sakati syndrome, and mitochond
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::434f6311bc4a527a10cd489fafcf77b9
http://hdl.handle.net/11577/3344734
http://hdl.handle.net/11577/3344734