المؤلفون: Danielsson, A, Carecchio, M, Cif, L, Koy, A, Lin, JP, Solders, G, Romito, L, Lohmann, K, Garavaglia, B, Reale, C, Zorzi, G, Nardocci, N, Coubes, P, Gonzalez, V, Roubertie, A, Collod-Beroud, G, Lind, G, Tedroff, K

المصدر: Journal of clinical medicine. 8(12)

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:142711185Test

المؤلفون: Garri F., Russo F. P., Carrer T., Weis L., Pistonesi F., Mainardi M., Sandre M., Savarino E., Farinati F., Del Sorbo F., Soliveri P., Calandrella D., Biundo R., Carecchio M., Zecchinelli A. L., Pezzoli G., Antonini A.

المساهمون: Garri, F., Russo, F. P., Carrer, T., Weis, L., Pistonesi, F., Mainardi, M., Sandre, M., Savarino, E., Farinati, F., Del Sorbo, F., Soliveri, P., Calandrella, D., Biundo, R., Carecchio, M., Zecchinelli, A. L., Pezzoli, G., Antonini, A.

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35986763; info:eu-repo/semantics/altIdentifier/wos/WOS:000842140700001; journal:JOURNAL OF NEUROLOGY; http://hdl.handle.net/11577/3457499Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85136485229

الإتاحة: https://doi.org/10.1007/s00415-022-11321-6Test
http://hdl.handle.net/11577/3457499Test

المؤلفون: Monfrini, E, Ciolfi, A, Cavallieri, F, Ferilli, M, Soliveri, P, Pedace, L, Erro, R, Del Sorbo, F, Valzania, F, Fioravanti, V, Cossu, G, Pellegrini, M, Salviati, L, Invernizzi, F, Oppo, V, Murgia, D, Giometto, B, Picillo, M, Garavaglia, B, Morgante, F, Tartaglia, M, Carecchio, M, Di Fonzo, A

وصف الملف: application/pdf; application/zip

العلاقة: https://openaccess.sgul.ac.uk/id/eprint/115045/1/fcac276.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/115045/6/fcac276_supplementary_data.zipTest; Monfrini, E; Ciolfi, A; Cavallieri, F; Ferilli, M; Soliveri, P; Pedace, L; Erro, R; Del Sorbo, F; Valzania, F; Fioravanti, V; et al. Monfrini, E; Ciolfi, A; Cavallieri, F; Ferilli, M; Soliveri, P; Pedace, L; Erro, R; Del Sorbo, F; Valzania, F; Fioravanti, V; Cossu, G; Pellegrini, M; Salviati, L; Invernizzi, F; Oppo, V; Murgia, D; Giometto, B; Picillo, M; Garavaglia, B; Morgante, F; Tartaglia, M; Carecchio, M; Di Fonzo, A (2022) Adult-onset KMT2B-related dystonia. BRAIN COMMUNICATIONS, 4 (6). fcac276. ISSN 2632-1297 https://doi.org/10.1093/braincomms/fcac276Test SGUL Authors: Morgante, Francesca

الإتاحة: https://doi.org/10.1093/braincomms/fcac276Test
https://openaccess.sgul.ac.uk/id/eprint/115045Test/
https://openaccess.sgul.ac.uk/id/eprint/115045/1/fcac276.pdfTest
https://openaccess.sgul.ac.uk/id/eprint/115045/6/fcac276_supplementary_data.zipTest

المؤلفون: Lenzini, L., Carecchio, M., Iori, E., Legati, A., Lamantea, E., Avogaro, A., Vitturi, N.

المساهمون: Università degli Studi di Padova, Ministero della Salute

المصدر: Molecular Genetics and Metabolism Reports ; volume 30, page 100830 ; ISSN 2214-4269

مصطلحات موضوعية: Endocrinology, Genetics, Molecular Biology

الإتاحة: https://doi.org/10.1016/j.ymgmr.2021.100830Test
https://api.elsevier.com/content/article/PII:S2214426921001257?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2214426921001257?httpAccept=text/plainTest

المؤلفون: Cavaliere E., Gortan A. J., Passon N., Fabbro D., Marin D., Carecchio M., Baldan F., Credendino S. C., Gallo R., Cogo P., Damante G., De Vita G.

المساهمون: Cavaliere, E., Gortan, A. J., Passon, N., Fabbro, D., Marin, D., Carecchio, M., Baldan, F., Credendino, S. C., Gallo, R., Cogo, P., Damante, G., De Vita, G.

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000634222600001; journal:CLINICAL GENETICS; http://hdl.handle.net/11390/1205664Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85103219266

الإتاحة: https://doi.org/10.1111/cge.13961Test
http://hdl.handle.net/11390/1205664Test

المؤلفون: Ottaviano G, Carecchio M, Scarpa B, Marchese-Ragona R.

المساهمون: Ottaviano, G, Carecchio, M, Scarpa, B, Marchese-Ragona, R.

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000562561400013; volume:58; issue:4; firstpage:400; lastpage:401; numberofpages:2; journal:RHINOLOGY; http://hdl.handle.net/11577/3339967Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85084617003

الإتاحة: https://doi.org/10.4193/Rhin20.136Test
http://hdl.handle.net/11577/3339967Test

المؤلفون: Romito L. M., Leta V., Garavaglia B., Panteghini C., Zorzi G., Elia A. E., Colucci F., Carecchio M., Eleopra R.

المساهمون: Romito, L. M., Leta, V., Garavaglia, B., Panteghini, C., Zorzi, G., Elia, A. E., Colucci, F., Carecchio, M., Eleopra, R.

مصطلحات موضوعية: ANO3, anoctamin, basal ganglia, chorea, dystonia, DYT23, DYT24, putamen

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/38073131; info:eu-repo/semantics/altIdentifier/wos/WOS:001121239700001; journal:MOVEMENT DISORDERS; https://hdl.handle.net/11577/3503157Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85179316508

الإتاحة: https://doi.org/10.1002/mds.29672Test
https://hdl.handle.net/11577/3503157Test

المؤلفون: Monfrini E., Avanzino L., Palermo G., Bonato G., Brescia G., Ceravolo R., Cantarella G., Mandich P., Prokisch H., Storm van's Gravesande K., Straccia G., Elia A., Reale C., Panteghini C., Zorzi G., Eleopra R., Erro R., Carecchio M., Garavaglia B., Zech M., Romito L., Di Fonzo A.

المساهمون: Monfrini, E., Avanzino, L., Palermo, G., Bonato, G., Brescia, G., Ceravolo, R., Cantarella, G., Mandich, P., Prokisch, H., Storm van's Gravesande, K., Straccia, G., Elia, A., Reale, C., Panteghini, C., Zorzi, G., Eleopra, R., Erro, R., Carecchio, M., Garavaglia, B., Zech, M., Romito, L., Di Fonzo, A.

مصطلحات موضوعية: choreoathetosi, freezing, GPi-DBS, HOPSAND, myoclonu, pharyngeal spasm

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:001124648900001; journal:MOVEMENT DISORDERS CLINICAL PRACTICE; https://hdl.handle.net/11577/3503158Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85179355414

الإتاحة: https://doi.org/10.1002/mdc3.13927Test
https://hdl.handle.net/11577/3503158Test

المؤلفون: Menon P. J., Nilles C., Silveira-Moriyama L., Yuan R., de Gusmao C. M., Münchau A., Carecchio M., Grossman S., Grossman G., Méneret A., Roze E., Pringsheim T.

المساهمون: Menon, P. J., Nilles, C., Silveira-Moriyama, L., Yuan, R., de Gusmao, C. M., Münchau, A., Carecchio, M., Grossman, S., Grossman, G., Méneret, A., Roze, E., Pringsheim, T.

مصطلحات موضوعية: ADCY5, chorea, dyskinesia, paroxysmal dyskinesia, sleep disorders

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37476318; info:eu-repo/semantics/altIdentifier/wos/WOS:001001625800001; volume:10; issue:7; firstpage:1048; lastpage:1059; numberofpages:12; journal:MOVEMENT DISORDERS CLINICAL PRACTICE; https://hdl.handle.net/11577/3503156Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85161621942

الإتاحة: https://doi.org/10.1002/mdc3.13796Test
https://hdl.handle.net/11577/3503156Test

المؤلفون: Kuipers, D. (Demy), Mandemakers, W.J. (Wim), Lu, C.-S. (Chin-Song), Olgiati, S. (Simone), Breedveld, G.J. (Guido), Fevga, C. (Christina), Tadic, V. (Vera), Carecchio, M. (Miryam), Osterman, B. (Bradley), Sagi-Dain, L. (Lena), Wu-Chou, Y.H. (Yah-Huei), Chen, C.C. (Chiung C.), Chang, H.C. (Hsiu-Chen), Wu, S.-L. (Shey-Lin), Yeh, T.-H. (Tu-Hsueh), Weng, Y.H. (Yi Hsin), Elia, A.E. (Antonio E.), Panteghini, C. (Celeste), Marotta, N. (Nicolas), Pauly, M.G. (Martje G.), Kühn, A.A. (Andrea A.), Volkmann, J. (Jens), Lace, B. (Baiba), Meijer, I.A. (Inge A.), Kandaswamy, K. (Krishna), Quadri, M. (Marialuisa), Garavaglia, B. (Barbara), Lohmann, K. (Katja), Bauer, P. (Peter), Mencacci, N.E. (Niccolo), Lubbe, S.J. (Steven J.), Klein, C. (Christoph), Bertoli Avella, A.M. (Aida), Bonifati, V. (Vincenzo)

المصدر: Annals of Neurology

وصف الملف: application/pdf

العلاقة: http://repub.eur.nl/pub/132620Test; urn:hdl:1765/132620

الإتاحة: https://doi.org/10.1002/ana.25973Test
http://repub.eur.nl/pub/132620Test