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Material Type: Artigo
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Muscle MRI in inherited neuromuscular disorders: Past, present, and futureMercuri, Eugenio ; Pichiecchio, Anna ; Allsop, Joanna ; Messina, Sonia ; Pane, Marika ; Muntoni, FrancescoJournal of magnetic resonance imaging, 2007-02, Vol.25 (2), p.433-440 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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Material Type: Artigo
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Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patientsGuglieri, Michela ; Magri, Francesca ; D'Angelo, Maria Grazia ; Prelle, Alessandro ; Morandi, Lucia ; Rodolico, Carmelo ; Cagliani, Rachele ; Mora, Marina ; Fortunato, Francesco ; Bordoni, Andreina ; Del Bo, Roberto ; Ghezzi, Serena ; Pagliarani, Serena ; Lucchiari, Sabrina ; Salani, Sabrina ; Zecca, Chiara ; Lamperti, Costanza ; Ronchi, Dario ; Aguennouz, Mohammed ; Ciscato, Patrizia ; Di Blasi, Claudia ; Ruggieri, Alessandra ; Moroni, Isabella ; Turconi, Anna ; Toscano, Antonio ; Moggio, Maurizio ; Bresolin, Nereo ; Comi, Giacomo PHuman mutation, 2008-02, Vol.29 (2), p.258-266 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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Material Type: Artigo
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Limb-girdle muscular dystrophiesGuglieri, Michela ; Straub, Volker ; Bushby, Kate ; Lochmüller, Hanns DiMauro, SCurrent opinion in neurology, 2008-10, Vol.21 (5), p.576-584 [Periódico revisado por pares]EnglandTexto completo disponível |
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Material Type: Artigo
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Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2AGroen, Emma J. ; Charlton, Richard ; Barresi, Rita ; Anderson, Louise V. ; Eagle, Michelle ; Hudson, Judith ; Koref, Mauro Santibanez ; Straub, Volker ; Bushby, Katharine M. D.Brain (London, England : 1878), 2007-12, Vol.130 (12), p.3237-3249 [Periódico revisado por pares]Oxford: Oxford University PressTexto completo disponível |
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Material Type: Artigo
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EFNS guideline on diagnosis and management of limb girdle muscular dystrophiesNorwood, F. ; De Visser, M. ; Eymard, B. ; Lochmüller, H. ; Bushby, K.European journal of neurology, 2007-12, Vol.14 (12), p.1305-1312 [Periódico revisado por pares]Oxford, UK: Blackwell Publishing LtdTexto completo disponível |
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Material Type: Artigo
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LGMD2A: genotype–phenotype correlations based on a large mutational survey on the calpain 3 geneSáenz, A. ; Leturcq, F. ; Cobo, A. M. ; Poza, J. J. ; Ferrer, X. ; Otaegui, D. ; Camaño, P. ; Urtasun, M. ; Vílchez, J. ; Gutiérrez-Rivas, E. ; Emparanza, J. ; Merlini, L. ; Paisán, C. ; Goicoechea, M. ; Blázquez, L. ; Eymard, B. ; Lochmuller, H. ; Walter, M. ; Bonnemann, C. ; Figarella-Branger, D. ; Kaplan, J. C. ; Urtizberea, J. A. ; Martí-Massó, J. F. ; de Munain, A. LópezBrain (London, England : 1878), 2005-04, Vol.128 (4), p.732-742 [Periódico revisado por pares]Oxford: Oxford University PressTexto completo disponível |
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Material Type: Artigo
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Limb–girdle muscular dystrophy: Diagnostic evaluation, frequency and clues to pathogenesisLo, Harriet P ; Cooper, Sandra T ; Evesson, Frances J ; Seto, Jane T ; Chiotis, Maria ; Tay, Valerie ; Compton, Alison G ; Cairns, Anita G ; Corbett, Alistair ; MacArthur, Daniel G ; Yang, Nan ; Reardon, Katrina ; North, Kathryn NNeuromuscular disorders : NMD, 2008-01, Vol.18 (1), p.34-44 [Periódico revisado por pares]England: Elsevier B.VTexto completo disponível |
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8 |
Material Type: Artigo
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Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDSFISCHER, Dirk ; WALTER, Maggie C ; URBACH, Horst ; SCHRÖDER, Rolf ; KESPER, Kristina ; PETERSEN, Jens A ; AURINO, Stefania ; NIGRO, Vincenzo ; KUBISCH, Christian ; MEINDL, Thomas ; LOCHMÜLLER, Hanns ; WILHELM, KaiJournal of neurology, 2005-05, Vol.252 (5), p.538-547 [Periódico revisado por pares]Berlin: SpringerTexto completo disponível |
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Material Type: Artigo
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Dysferlin-deficient muscular dystrophy features amyloidosisSpuler, Simone ; Carl, Miriam ; Zabojszcza, Joanna ; Straub, Volker ; Bushby, Kate ; Moore, Steven A. ; Bähring, Sylvia ; Wenzel, Katrin ; Vinkemeier, Uwe ; Rocken, ChristophAnnals of neurology, 2008-03, Vol.63 (3), p.323-328 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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10 |
Material Type: Artigo
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Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contracturesMercuri, Eugenio ; Bushby, Kate ; Ricci, Enzo ; Birchall, Daniel ; Pane, Marika ; Kinali, Maria ; Allsop, Joanna ; Nigro, Vincenzo ; Sáenz, Amets ; Nascimbeni, Annachiara ; Fulizio, Luigi ; Angelini, Corrado ; Muntoni, FrancescoNeuromuscular disorders : NMD, 2005-02, Vol.15 (2), p.164-171 [Periódico revisado por pares]England: Elsevier B.VTexto completo disponível |