The relationship between deficit in digit span and genotype in nonsense mutation Duchenne muscular dystrophy

Autor: Thangarajh, M, Elfring, GL, Trifillis, P, McIntosh, J, Peitz, SW, Ryan, MM, Kornberg, AJ, RodriguezCasero, V, Wray, A, Jones, KJ, North, K, Goemans, N, Buyse, GM, Campbell, C, Mah, J, Sarnat, H, Selby, K, Voit, T, Doppler, V, De Castro, D, Chabrol, B, Levy, N, Halbert, C, Pereon, Y, Magot, A, Perrier, J, Mahe, JY, Schara, U, Lutz, S, Busse, M, Della Marina, A, Kirschner, J, Stanescu, A, Pohl, A, RensingZimmerman, C, Bertini, E, D'Amico, A, Kofler, A, Carlesi, A, Bonetti, AM, Santecchia, L, Emma, F, Bergami, G, Mercuri, EM, Vasco, G, Bianco, F, Mazzone, ES, De Sanctis, R, Alfieri, P, Pane, M, Messina, S, Comi, GP, Magri, F, Lucchini, V, Corti, SP, Moggio, MG, Sciacco, M, Bresolin, N, Prelle, AC, Magri, R, Virgilio, R, Lamperti, C, Nevo, Y, DorWollman, T, Vilchez, J, Muelas, N, Sevilla, T, Smeyers, P, de la Osa, A, Colomer, J, Ortez, CI, Nascimento, A, Febrer, A, Medina, J, Tulinus, M, Thorarinsdottir, B, Darin, N, Sejersen, T, Hovmoller, M, Bushby, K, Straub, V, Guglieri, M, Sarkozy, A, Willis, T, Eagle, M, Mayhew, A, Muntoni, F, Cirak, S, Manzur, AY, Robb, SA, Kinali, M, Quinlivan, RCM, Smith, MR, Pandey, R, Wong, B, Collins, J, Finkel, R, Bonnemann, C, Yang, M, Foley, AR, Yum, S, Sampson, J, Bromberg, M, Swoboda, K, Day, J, Karachunski, P, Mathews, K, Bonthius, D, Laubenthal, KS, Darras, B, Kang, P, Parson, J, Barohn, R, Dasouki, M, Anderson, H, Burns, J, Dimachkie, M, Pasnoor, M, Wang, YX, Ciafaloni, E, Heatwole, C, Connolly, A, Pestronk, A, Al-Lozi, M, Lopate, G, Golumbek, P, Sommerville, B, Wang, L, Wojcicka-Mitchell, A, Godbey, A, Harms, M, Varadachary, A, Iyadurai, S, Rojas, L, Iannacone, S, Khonghatithum, C, Sproule, D, De Vivo, D, Constantinescu, A, McDonald, C, Han, J, Ben Renfroe, Russman, B, Sussman, M, BurnsWechsler, S, Juel, V, Hobson-Webb, L, Smith, E, Ataluren Phase 2b Study Grp

Publikováno v: Neurology
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
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ObjectiveTo evaluate the relationship between deficit in digit span and genotype in nonsense mutation (nm) Duchenne muscular dystrophy (DMD) (nmDMD).MethodsWe investigated the relationship between normalized digit-span forward (d-sf) and digit-span b

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9c9c74216e66383cd737eb4c0124148
https://doi.org/10.1212/wnl.0000000000006245

Evidence of two genetically deeply divergent species of warthog, Phacochoerus africanus and P. aethiopicus (Artiodactyla: Suiformes) in East Africa

Autor: Randi, E., D′Huart, J.-P., Lucchini, V., Aman, R.

Publikováno v: In Mammalian Biology 2002 67(2):91-96

LOPED study: Looking for an early diagnosis in a late-onset Pompe disease high-risk population

Autor: Musumeci, O, la Marca, G., Spada, M., Mondello, S., Danesino, C., Comi, G. P., Pegoraro, E., Antonini, G., Marrosu, G., Liguori, R., Morandi, L., Moggio, M., Massa, R., Ravaglia, S., Di Muzio, A., Filosto, M., Tonin, P., Di Iorio, G., Servidei, S., Siciliano, Gabriele, Angelini, C., Mongini, T., Toscano, A., Montagnese, F., Ombrone, D., Pagliardini, S., De Filippi, P., Ronchi, D., Semplicini, C., Garibaldi, M., Piras, R., Maggi, L., Lucchini, V., Terracciano, C., Todeschini, A., Scarpelli, M., Ciccocioppo, F., Primiano, G., Ricci, G., Vercelli, L., Barca, E.

Publikováno v: Università degli studi di Firenze-IRIS

Objective A multicentre observational study was aimed to assess the prevalence of late-onset Pompe disease (LOPD) in a large high-risk population, using the dried blood spot (DBS) as a main screening tool. Design/methods 17 Italian neuromuscular cent

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35d86f94d30d3fb7766796a9a33fabed
http://hdl.handle.net/11570/3083400

Long-term follow-up effects on enzyme replacement treatment of adult form of acid maltase deficiency myopathy

Autor: Angelini C, Semplicini C, Ravaglia S, Bembi B, Servidei S, Moggio M, Filosto M, Sette E, Pegoraro E, Crescimanno G, Tonin P, Parini R, Morandi L, Marrosu G, Greco G, Musumeci O, Siciliano G, Donati MA, Mongini T, Vercelli L, Di Giacopo R, Lucchini V, Tugnoli V, Rigoldi M, Piras R, Giannini F, Gasperini S, Volpi L. Diodato D, Ariatti A., DI IORIO, Giuseppe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3977::e6cf2e5256497939a974f9352c4b6e5e
http://hdl.handle.net/11591/186193

Expression of beta-tubulin isotypes in human ovarian carcinoma xenografts and in a sub-panel of human cancer cell lines from the NCI-Anticancer Drug Screen: correlation with sensitivity to microtubule active agents

Autor: Mi, Nicoletti, Valoti G, Giannakakou P, Zhan Z, Jh, Kim, Lucchini V, Landoni F, Jg, Mayo, Raffaella Giavazzi, Fojo T

Publikováno v: Europe PubMed Central

Paclitaxel resistance has been associated with overexpression of P-glycoprotein and alterations involving tubulin. To investigate the clinical relevance of these in vitro resistance mechanisms, we established 12 human ovarian carcinoma xenografts, us

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::1727f9e7927ac1789d4962fc3da40f83
https://pubmed.ncbi.nlm.nih.gov/11555610