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Material Type: Artículo
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LMNA-associated myopathies: The Italian experience in a large cohort of patientsMaggi, Lorenzo ; DʼAmico, Adele ; Pini, Antonella ; Sivo, Serena ; Pane, Marika ; Ricci, Giulia ; Vercelli, Liliana ; DʼAmbrosio, Paola ; Travaglini, Lorena ; Sala, Simone ; Brenna, Greta ; Kapetis, Dimos ; Scarlato, Marina ; Pegoraro, Elena ; Ferrari, Maurizio ; Toscano, Antonio ; Benedetti, Sara ; Bernasconi, Pia ; Colleoni, Lara ; Lattanzi, Giovanna ; Bertini, Enrico ; Mercuri, Eugenio ; Siciliano, Gabriele ; Rodolico, Carmelo ; Mongini, Tiziana ; Politano, Luisa ; Previtali, Stefano C ; Carboni, Nicola ; Mantegazza, Renato ; Morandi, LuciaNeurology, 2014-10, Vol.83 (18), p.1634-1644 [Revista revisada por pares]Hagerstown, MD: American Academy of NeurologyTexto completo disponible |
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Material Type: Artículo
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Diagnosis and new treatments in muscular dystrophiesManzur, A Y ; Muntoni, FJournal of neurology, neurosurgery and psychiatry, 2009-07, Vol.80 (7), p.706-714 [Revista revisada por pares]London: The Fellowship of Postgraduate MedicineTexto completo disponible |
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Material Type: Artículo
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Importance and challenge of making an early diagnosis in LMNA-related muscular dystrophyMENEZES, M. P ; WADDELL, L. B ; HARBORD, M ; NORTH, K. N ; CLARKE, N. F ; EVESSON, F. J ; COOPER, S ; WEBSTER, R ; JONES, K ; MOWAT, D ; KIERNAN, M. C ; JOHNSTON, H. M ; CORBETT, ANeurology, 2012-04, Vol.78 (16), p.1258-1263 [Revista revisada por pares]Hagerstown, MD: Lippincott Williams & WilkinsTexto completo disponible |
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Material Type: Artículo
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Reliability and accuracy of skeletal muscle imaging in limb-girdle muscular dystrophiesTEN DAM, Leroy ; VAN DER KOOI, Anneke J ; VAN WATTINGEN, Menno ; DE HAAN, Rob J ; DE VISSER, MarianneNeurology, 2012-10, Vol.79 (16), p.1716-1723 [Revista revisada por pares]Hagerstown, MD: Lippincott Williams & WilkinsTexto completo disponible |
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Material Type: Artículo
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Experienced fatigue in facioscapulohumeral dystrophy, myotonic dystrophy, and HMSN-IKalkman, J S ; Schillings, M L ; van der Werf, S P ; Padberg, G W ; Zwarts, M J ; van Engelen, B G M ; Bleijenberg, GJournal of neurology, neurosurgery and psychiatry, 2005-10, Vol.76 (10), p.1406-1409 [Revista revisada por pares]London: BMJ Publishing Group LtdTexto completo disponible |
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Material Type: Artículo
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Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic populationNorwood, Fiona L. M. ; Harling, Chris ; Chinnery, Patrick F. ; Eagle, Michelle ; Bushby, Kate ; Straub, VolkerBrain (London, England : 1878), 2009-11, Vol.132 (11), p.3175-3186 [Revista revisada por pares]Oxford: Oxford University PressTexto completo disponible |
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Material Type: Artículo
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A founder mutation in Anoctamin 5 is a major cause of limb girdle muscular dystrophyHICKS, Debbie ; SARKOZY, Anna ; BAILEY, Geraldine ; MILLER, James ; RADUNOVIC, Aleksander ; HUGHES, Paul J ; ROBERT, Richard ; KRAUSE, Sabine ; WALTER, Maggie C ; LAVAL, Steven H ; STRAUB, Volker ; LOCHMÜLLER, Hanns ; MUELAS, Nuria ; BUSHBY, Kate ; KÖEHLER, Katrin ; HUEBNER, Angela ; HUDSON, Gavin ; CHINNERY, Patrick F ; BARRESI, Rita ; EAGLE, Michelle ; POLVIKOSKI, TuomoBrain (London, England : 1878), 2011-01, Vol.134 (Pt 1), p.171-182 [Revista revisada por pares]Oxford: Oxford University PressTexto completo disponible |
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Material Type: Artículo
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T2 and FSE MRI distinguishes four subtypes of neurodegeneration with brain iron accumulationMCNEILL, A ; BIRCHALL, D ; HAYFLICK, S. J ; GREGORY, A ; SCHENK, J. F ; ZIMMERMAN, E. A ; SHANG, H ; MIYAJIMA, H ; CHINNERY, P. FNeurology, 2008-04, Vol.70 (18), p.1614-1619 [Revista revisada por pares]Hagerstown, MD: Lippincott Williams & WilkinsTexto completo disponible |
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Material Type: Artículo
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A phase I trial of adeno-associated virus serotype 1-γ-sarcoglycan gene therapy for limb girdle muscular dystrophy type 2CHerson, Serge ; Hentati, Faycal ; Rigolet, Aude ; Behin, Anthony ; Romero, Norma B ; Leturcq, France ; Laforêt, Pascal ; Maisonobe, Thierry ; Amouri, Rim ; Haddad, Hafedh ; Audit, Muriel ; Montus, Marie ; Masurier, Carole ; Gjata, Bernard ; Georger, Christophe ; Cheraï, Mustapha ; Carlier, Pierre ; Hogrel, Jean-Yves ; Herson, Ariane ; Allenbach, Yves ; Lemoine, François M ; Klatzmann, David ; Sweeney, H. Lee ; Mulligan, Richard C ; Eymard, Bruno ; Caizergues, Didier ; Voït, Thomas ; Benveniste, OlivierBrain (London, England : 1878), 2012-02, Vol.135 (2), p.483-492 [Revista revisada por pares]Oxford: Oxford University PressTexto completo disponible |
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Material Type: Artículo
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Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-upMagri, Francesca ; Govoni, Alessandra ; D’Angelo, Maria Grazia ; Del Bo, Roberto ; Ghezzi, Serena ; Sandra, Gandossini ; Turconi, Anna Carla ; Sciacco, Monica ; Ciscato, Patrizia ; Bordoni, Andreina ; Tedeschi, Silvana ; Fortunato, Francesco ; Lucchini, Valeria ; Bonato, Sara ; Lamperti, Costanza ; Coviello, Domenico ; Torrente, Yvan ; Corti, Stefania ; Moggio, Maurizio ; Bresolin, Nereo ; Comi, Giacomo PietroJournal of neurology, 2011-09, Vol.258 (9), p.1610-1623 [Revista revisada por pares]Berlin/Heidelberg: Springer-VerlagTexto completo disponible |