المؤلفون: Gang, Q, Bettencourt, C, Brady, S, Holton, JL, Healy, EG, McConville, J, Morrison, PJ, Ripolone, M, Violano, R, Sciacco, M, Moggio, M, Mora, M, Mantegazza, R, Zanotti, S, Wang, Z, Yuan, Y, Liu, W-W, Beeson, D, Hanna, M, Houlden, H

المصدر: Annals of Clinical and Translational Neurology (2021) (In press).

مصطلحات موضوعية: CONGENITAL MYASTHENIC SYNDROME, SKELETAL-MUSCLE, CONSTITUTIVE ACTIVATION, MUTATIONS, ORAI1, STIM1, IDENTIFICATION, ASSOCIATION, EXPRESSION, FEATURES

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10141180/1/Houlden_Genetic%20defects%20are%20common%20in%20myopathies%20with%20tubular%20aggregates.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10141180Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10141180/1/Houlden_Genetic%20defects%20are%20common%20in%20myopathies%20with%20tubular%20aggregates.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10141180Test/

المؤلفون: Böhm, J, Bulla, M, Urquhart, JE, Malfatti, E, Williams, SG, O'Sullivan, J, Szlauer, A, Koch, C, Baranello, G, Mora, M, Ripolone, M, Violano, R, Moggio, M, Kingston, H, Dawson, T, DeGoede, CG, Nixon, J, Boland, A, Deleuze, J-F, Romero, N, Newman, WG, Demaurex, N, Laporte, J

المصدر: Human Mutation , 38 (4) pp. 426-438. (2017)

مصطلحات موضوعية: tubular aggregate myopathy, Stormorken syndrome, ORAI1, calcium, SOCE, STIM1

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10067486/1/Baranello_ORAI1%20Mutations%20with%20Distinct%20Channel%20Gating%20Defects%20in%20Tubular%20Aggregate%20Myopathy_AAM2.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10067486Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10067486/1/Baranello_ORAI1%20Mutations%20with%20Distinct%20Channel%20Gating%20Defects%20in%20Tubular%20Aggregate%20Myopathy_AAM2.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10067486Test/

المؤلفون: Gang, Q, Bettencourt, C, Machado, PM, Brady, S, Holton, JL, Pittman, AM, Hughes, D, Healy, E, Parton, M, Hilton-Jones, D, Shieh, PB, Needham, M, Liang, C, Zanoteli, E, de Camargo, LV, De Paepe, B, De Bleecker, J, Shaibani, A, Ripolone, M, Violano, R, Moggio, M, Barohn, RJ, Dimachkie, MM, Mora, M, Mantegazza, R, Zanotti, S, Singleton, AB, Hanna, MG, Houlden, H, Muscle Study Group and The International IBM Genetics Consortium, .

المصدر: Neurobiology of Aging , 47 218.e1-218.e9. (2016)

مصطلحات موضوعية: Genetic risk factor, SQSTM1, Sporadic inclusion body myositis, VCP, sIBM

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/1514790/1/1-s2.0-S0197458016301610-main.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1514790Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/1514790/1/1-s2.0-S0197458016301610-main.pdfTest
https://discovery.ucl.ac.uk/id/eprint/1514790Test/

المؤلفون: Mirella, Filocamo, Chiara, Baldo, Stefano, Goldwurm, Alessandra, Renieri, Corrado, Angelini, Maurizio, Moggio, Marina, Mora, Giuseppe, Merla, Luisa, Politano, Barbara, Garavaglia, Lorena, Casareto, Francesca, Bricarelli, Telethon Network of Genetic Biobanks Staff, Corsolini F, Galotto S, Mazzotti R, Stroppiana G, Castagnetta M, Mogni M, Viotti V, Bonetti A, Felici F, Natuzzi F, Amabile S, Frullanti E, Meloni I, Fanin M, Nascimbeni A, Pegoraro E, Peterle E, Napoli L, Ripolone M, Sciacco M, Violano R, Canioni E, Gibertini S, Saredi S, Zanotti S, Fusco C, Micale L, Pellico MT, Zelante L, D'Ambrosio P, Picillo E, Taglia A, Barzaghi C, Panteghini C, Valletta L.

المساهمون: Mirella, Filocamo, Chiara, Baldo, Stefano, Goldwurm, Renieri, Alessandra, Corrado, Angelini, Maurizio, Moggio, Marina, Mora, Giuseppe, Merla, Luisa, Politano, Barbara, Garavaglia, Lorena, Casareto, Francesca, Bricarelli, Telethon Network of Genetic Biobanks Staff, Corsolini, F, Galotto, S, Mazzotti, R, Stroppiana, G, Castagnetta, M, Mogni, M, Viotti, V, Bonetti, A, Felici, F, Natuzzi, F, Amabile, S, Frullanti, E, Meloni, I, Fanin, M, Nascimbeni, A, Pegoraro, E, Peterle, E, Napoli, L, Ripolone, M, Sciacco, M, Violano, R, Canioni, E, Gibertini, S, Saredi, S, Zanotti, S, Fusco, C, Micale, L, Pellico, Mt, Zelante, L, D'Ambrosio, P, Picillo, E, Taglia, A, Barzaghi, C, Panteghini, C, Valletta, L.

مصطلحات موضوعية: Biobanking, Networking, Biological resources centre, IT infrastructure, Biological material, Biospecimens, Cryopreservation, Rare diseases, Patients’ associations

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/24004821; info:eu-repo/semantics/altIdentifier/wos/WOS:000324069900001; ispartofbook:Orphanet Journal of Rare Diseases; volume:8; issue:1; firstpage:1; lastpage:11; numberofpages:11; journal:ORPHANET JOURNAL OF RARE DISEASES; http://hdl.handle.net/11365/960276Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84883168131

الإتاحة: https://doi.org/10.1186/1750-1172-8-129Test
http://hdl.handle.net/11365/960276Test

المؤلفون: Violano, R, Ripolone, M, Lucchini, V, Villa, L, Sciacco, M, Comi, G, Tonin, P, Filosto, M, Previtali, S, Mongini, T, Vercelli, L, Vittonatto, E, Toscano, A, Musumeci, O, Barca, E, Angelini, C, Ravaglia, S, Lamperti, C, Mora, M, Morandi, L, Moggio, M

المصدر: BMC Musculoskeletal Disorders ; volume 14, issue S2 ; ISSN 1471-2474

مصطلحات موضوعية: Orthopedics and Sports Medicine, Rheumatology

الإتاحة: https://doi.org/10.1186/1471-2474-14-s2-p13Test

المؤلفون: Ripolone, M, Violano, R, Ronchi, D, Mondello, S, Nascimbeni, A, Colombo, I, Fagiolari, G, Bordoni, A, Fortunato, F, Lucchini, V, Saredi, S, Filosto, M, Musumeci, O, Tonin, P, Mongini, T, PREVITALI, Stefano, Morandi, L, Angelini, C, Mora, M, Sandri, M, Sciacco, M, Toscano, A, Comi, G P, Moggio, M

المساهمون: Ripolone, M, Violano, R, Ronchi, D, Mondello, S, Nascimbeni, A, Colombo, I, Fagiolari, G, Bordoni, A, Fortunato, F, Lucchini, V, Saredi, S, Filosto, M, Musumeci, O, Tonin, P, Mongini, T, Previtali, S, Morandi, L, Angelini, C, Mora, M, Sandri, M, Sciacco, M, Toscano, A, Comi, G P, Moggio, M

مصطلحات موضوعية: Pompe disease, acid alpha-glucosidase deficiency, autophagy, enzyme replacement therapy

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/28574618; info:eu-repo/semantics/altIdentifier/wos/WOS:000439515700002; volume:44; issue:5; firstpage:449; lastpage:462; numberofpages:14; journal:NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY; http://hdl.handle.net/2318/1665864Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85021708376

الإتاحة: https://doi.org/10.1111/nan.12414Test
http://hdl.handle.net/2318/1665864Test

المؤلفون: Ripolone, M., Violano, R., Ronchi, D., Mondello, S., Nascimbeni, A., Colombo, I., Fagiolari, G., Bordoni, A., Fortunato, F., Lucchini, V., Saredi, S., Filosto, M., Musumeci, O., Tonin, P., Mongini, T., Previtali, S., Morandi, L., Angelini, C., Mora, M., Sandri, M., Sciacco, M., Toscano, A., Comi, G. P., Moggio, M.

المساهمون: Fondazione Telethon

المصدر: Neuropathology and Applied Neurobiology ; volume 44, issue 5, page 449-462 ; ISSN 0305-1846 1365-2990

الإتاحة: https://doi.org/10.1111/nan.12414Test

المؤلفون: Gang, Q, Bettencourt, C, Brady, S, Holton, JL, Pittman, AM, Hughes, D, Healy, E, Parton, M, Hilton-Jones, D, Shieh, PB, Needham, M, Liang, C, Zanoteli, E, de Camargo, LV, De Paepe, Boel, De Bleecker, Jan, Shaibani, A, Ripolone, M, Violano, R, Moggio, M, Barohn, RJ, Dimachkie, MM, Mora, M, Mantegazza, R, Zanotti, S, Singleton, AB, Hanna, MG, Houlden, H, Machado, PM

المصدر: MUSCLE & NERVE ; ISSN: 0148-639X

مصطلحات موضوعية: Medicine and Health Sciences

وصف الملف: application/pdf

العلاقة: https://biblio.ugent.be/publication/6940782Test; http://hdl.handle.net/1854/LU-6940782Test; https://biblio.ugent.be/publication/6940782/file/6940840Test

الإتاحة: https://biblio.ugent.be/publication/6940782Test
http://hdl.handle.net/1854/LU-6940782Test
https://biblio.ugent.be/publication/6940782/file/6940840Test

المؤلفون: Gang, Q., Bettencourt, C., Brady, S., Holton, J.L., Pittman, A.M., Hughes, D., Healy, E., Parton, M., Hilton-Jones, D., Shieh, P.B., Needham, M., Liang, C., Zanoteli, E., de Carmargo, L.V., De Paepe, B., De Bleecker, J., Shaibani, A., Ripolone, M., Violano, R., Moggio, M., Barohn, R.J., Dimachkie, M.M., Mora, M., Mantegazza, R., Zanotti, S., Singleton, A.B., Hanna, M.G., Houlden, H., Machado, P.M.

المصدر: Gang, Q., Bettencourt, C., Brady, S., Holton, J.L., Pittman, A.M., Hughes, D., Healy, E., Parton, M., Hilton-Jones, D., Shieh, P.B., Needham, M. , Liang, C., Zanoteli, E., de Carmargo, L.V., De Paepe, B., De Bleecker, J., Shaibani, A., Ripolone, M., Violano, R., Moggio, M., Barohn, R.J., Dimachkie, M.M., Mora, M., Mantegazza, R., Zanotti, S., Singleton, A.B., Hanna, M.G., Houlden, H. and Machado, P.M. (2015) SQSTM1 and VCP mutations in a series of 205 inclusion body myositis cases. In: Muscle Study Group Meeting on Experimental Therapeutics Across the Spectrum of Neuromuscular Disease, 19 - 21 September 2015, Snowbird, UT, USA

العلاقة: https://researchrepository.murdoch.edu.au/id/eprint/34729Test/; full_text_status:none

الإتاحة: https://researchrepository.murdoch.edu.au/id/eprint/34729Test/

المؤلفون: Pambianco, S., Moggio, M., Bassi Mt, Puri Pl, Latella, L., Clementi, E., De Palma, C., Giovarelli, M., Perrotta, C., Zecchini, S., Cervia, Davide, Di Renzo, I., Moscheni, C., Ripolone, M., Violano, R.

العلاقة: CELL REPORTS; 3010; 3023; 14; 17; http://hdl.handle.net/2607/39532Test; 2-s2-85004043418; 390894700020

الإتاحة: http://hdl.handle.net/2607/39532Test