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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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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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Muscle magnetic resonance imaging involvement in muscular dystrophies with rigidity of the spineMercuri, Eugenio ; Clements, Emma ; Offiah, Amaka ; Pichiecchio, Anna ; Vasco, Gessica ; Bianco, Flaviana ; Berardinelli, Angela ; Manzur, Adnan ; Pane, Marika ; Messina, Sonia ; Gualandi, Francesca ; Ricci, Enzo ; Rutherford, Mary ; Muntoni, FrancescoAnnals of neurology, 2010-02, Vol.67 (2), p.201-208 [Revista revisada por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponible |
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Material Type: Artículo
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Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophyBELLO, Luca ; MELACINI, Paola ; GAVASSINI, Bruno F ; VIANELLO, Andrea ; NIGRO, Vincenzo ; BERTINI, Enrico ; ANGELINI, Corrado ; TOSATTO, Silvio Ce ; PEGORARO, Elena ; PEZZANI, Raffaele ; D'AMICO, Adele ; PIVA, Luisa ; LEONARDI, Emanuela ; TORELLA, Annalaura ; SORARU, Gianni ; PALMIERI, Arianna ; SMANIOTTO, GessicaEuropean journal of human genetics : EJHG, 2012-12, Vol.20 (12), p.1234-1239 [Revista revisada por pares]Basingstoke: Nature Publishing GroupTexto completo disponible |
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Material Type: Artículo
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DPM2-CDG: A muscular dystrophy-dystroglycanopathy syndrome with severe epilepsyBarone, Rita ; Aiello, Chiara ; Race, Valérie ; Morava, Eva ; Foulquier, Francois ; Riemersma, Moniek ; Passarelli, Chiara ; Concolino, Daniela ; Carella, Massimo ; Santorelli, Filippo ; Vleugels, Wendy ; Mercuri, Eugenio ; Garozzo, Domenico ; Sturiale, Luisa ; Messina, Sonia ; Jaeken, Jaak ; Fiumara, Agata ; Wevers, Ron A. ; Bertini, Enrico ; Matthijs, Gert ; Lefeber, Dirk J.Annals of neurology, 2012-10, Vol.72 (4), p.550-558 [Revista revisada por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponible |
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Material Type: Artículo
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Pathophysiology of protein aggregation and extended phenotyping in filaminopathyKLEY, Rudolf A ; SERDAROGLU-OFLAZER, Piraye ; LEE, Hee S ; HÖHFELD, Jörg ; DJINOVIC-CARUGO, Kristina ; KONG, Kester ; TEGENTHOFF, Martin ; PETERS, Sören A ; STENZEL, Werner ; VORGERD, Matthias ; GOLDFARB, Lev G ; FÜRST, Dieter O ; LEBER, Yvonne ; ODGEREL, Zagaa ; VAN DER VEN, Peter F. M ; OLIVE, Montse ; FERRER, Isidro ; ONIPE, Adekunle ; MIHAYLOV, Mariya ; BILBAO, Juan MBrain (London, England : 1878), 2012-09, Vol.135 (Pt 9), p.2642-2660 [Revista revisada por pares]Oxford: Oxford University PressTexto completo disponible |
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Material Type: Artículo
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Mutations in ZASP define a novel form of muscular dystrophy in humansSelcen, Duygu ; Engel, Andrew G.Annals of neurology, 2005-02, Vol.57 (2), p.269-276 [Revista revisada por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponible |
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Material Type: Artículo
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Reducing bodies and myofibrillar myopathy features in FHL1 muscular dystrophySELCEN, Duygu ; BROMBERG, Mark B ; CHIN, Steven S ; ENGEL, Andrew GNeurology, 2011-11, Vol.77 (22), p.1951-1959 [Revista revisada por pares]Hagerstown, MD: Lippincott Williams & WilkinsTexto completo disponible |