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Hereditary muscular dystrophies and the heartHermans, M.C.E ; Pinto, Y.M ; Merkies, I.S.J ; de Die-Smulders, C.E.M ; Crijns, H.J.G.M ; Faber, C.GNeuromuscular disorders : NMD, 2010-08, Vol.20 (8), p.479-492 [Periódico revisado por pares]England: Elsevier B.VTexto completo disponível |
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Material Type: Artigo
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Cardiac Phenotypes in Hereditary Muscle Disorders: JACC State-of-the-Art ReviewArbustini, Eloisa ; Di Toro, Alessandro ; Giuliani, Lorenzo ; Favalli, Valentina ; Narula, Nupoor ; Grasso, MauriziaJournal of the American College of Cardiology, 2018-11, Vol.72 (20), p.2485-2506 [Periódico revisado por pares]United States: Elsevier LimitedTexto completo disponível |
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A hospital based epidemiological study of genetically determined muscle disease in south western NorwayHusebye, Sylvia Adele ; Rebne, Camilla Bratt ; Stokland, Ann-Elin ; Sanaker, Petter Schandl ; Bindoff, Laurence A.Neuromuscular disorders : NMD, 2020-03, Vol.30 (3), p.181-185 [Periódico revisado por pares]England: Elsevier B.VTexto completo disponível |
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Long-term clinical and MRI follow-up in two POMT2-related limb girdle muscular dystrophy (LGMDR14) patientsPanicucci, Chiara ; Casalini, Sara ; Damasio, Beatrice M. ; Brolatti, Noemi ; Pedemonte, Marina ; Biolcati Rinaldi, Alessandra ; Morando, Simone ; Doglio, Luca ; Raffaghello, Lizzia ; Fiorillo, Chiara ; Zara, Federico ; Tasca, Giorgio ; Bruno, ClaudioBrain & development (Tokyo. 1979), 2023-05, Vol.45 (5), p.306-313 [Periódico revisado por pares]Netherlands: Elsevier B.VTexto completo disponível |
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Material Type: Artigo
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Muscular dystrophiesMercuri, Eugenio ; Bönnemann, Carsten G ; Muntoni, FrancescoThe Lancet (British edition), 2019-11, Vol.394 (10213), p.2025-2038 [Periódico revisado por pares]England: Elsevier LtdTexto completo disponível |
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Material Type: Artigo
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Serum miRNAs as biomarkers for the rare types of muscular dystrophyKoutsoulidou, Andrie ; Koutalianos, Demetris ; Georgiou, Kristia ; Kakouri, Andrea C. ; Oulas, Anastasis ; Tomazou, Marios ; Kyriakides, Tassos C. ; Roos, Andreas ; Papadimas, George K. ; Papadopoulos, Constantinos ; Kararizou, Evangelia ; Spyrou, George M. ; Zamba Papanicolaou, Eleni ; Lochmüller, Hanns ; Phylactou, Leonidas A.Neuromuscular disorders : NMD, 2022-04, Vol.32 (4), p.332-346 [Periódico revisado por pares]England: Elsevier B.VTexto completo disponível |
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Material Type: Artigo
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Atypical phenotype in two patients with LAMA2 mutationsMarques, Joana ; Duarte, Sofia T ; Costa, Sónia ; Jacinto, Sandra ; Oliveira, Jorge ; Oliveira, Márcia E ; Santos, Rosário ; Bronze-da-Rocha, Elsa ; Silvestre, Ana Rita ; Calado, Eulália ; Evangelista, TeresinhaNeuromuscular disorders : NMD, 2014-05, Vol.24 (5), p.419-424 [Periódico revisado por pares]England: Elsevier B.VTexto completo disponível |
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Material Type: Artigo
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A novel homozygous ISPD gene mutation causing phenotype variability in a consanguineous familyBaranello, Giovanni ; Saredi, Simona ; Sansanelli, Serena ; Savadori, Paolo ; Canioni, Eleonora ; Chiapparini, Luisa ; Balestri, Paolo ; Malandrini, Alessandro ; Arnoldi, Maria Teresa ; Pantaleoni, Chiara ; Morandi, Lucia ; Mora, MarinaNeuromuscular disorders : NMD, 2015-01, Vol.25 (1), p.55-59 [Periódico revisado por pares]England: Elsevier B.VTexto completo disponível |
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Material Type: Artigo
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Comparison of skeletal muscle pathology and motor function of dystrophin and utrophin deficient mouse strainsvan Putten, Maaike ; Kumar, Darshan ; Hulsker, Margriet ; Hoogaars, Willem M.H ; Plomp, Jaap J ; van Opstal, Annemarieke ; van Iterson, Maarten ; Admiraal, Peter ; van Ommen, Gert-Jan B ; t Hoen, Peter A.C ; Aartsma-Rus, AnnemiekeNeuromuscular disorders : NMD, 2012-05, Vol.22 (5), p.406-417 [Periódico revisado por pares]England: Elsevier B.VTexto completo disponível |
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Material Type: Artigo
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Telethonin-deficiency initially presenting as a congenital muscular dystrophyFerreiro, Ana ; Mezmezian, Monica ; Olivé, Montse ; Herlicoviez, Danielle ; Fardeau, Michel ; Richard, Pascale ; Romero, Norma BeatrizNeuromuscular disorders : NMD, 2011-06, Vol.21 (6), p.433-438 [Periódico revisado por pares]England: Elsevier B.VTexto completo disponível |