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Material Type: Artigo
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Histological and biochemical outcomes of cardiac pathology in mdx mice with dietary quercetin enrichmentBallmann, Christopher ; Hollinger, Katrin ; Selsby, Joshua T ; Amin, Rajesh ; Quindry, John CExperimental physiology, 2015-01, Vol.100 (1), p.12 [Periódico revisado por pares]EnglandTexto completo disponível |
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Material Type: Artigo
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PGC‐1α gene transfer improves muscle function in dystrophic muscle following prolonged disease progressHollinger, Katrin ; Selsby, Joshua T.Experimental physiology, 2015-10, Vol.100 (10), p.1145-1158 [Periódico revisado por pares]EnglandTexto completo disponível |
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Material Type: Artigo
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The pathogenicity of splicing defects: mechanistic insights into pre-mRNA processing inform novel therapeutic approachesDaguenet, Elisabeth ; Dujardin, Gwendal ; Valcárcel, JuanEMBO reports, 2015-12, Vol.16 (12), p.1640-1655 [Periódico revisado por pares]England: Blackwell Publishing LtdTexto completo disponível |
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Material Type: Artigo
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A Comparative Study of α-Dystroglycan Glycosylation in Dystroglycanopathies Suggests that the Hypoglycosylation of α-Dystroglycan Does Not Consistently Correlate with Clinical SeverityJimenez-Mallebrera, Cecilia ; Torelli, Silvia ; Feng, Lucy ; Kim, Jihee ; Godfrey, Caroline ; Clement, Emma ; Mein, Rachael ; Abbs, Stephen ; Brown, Susan C. ; Campbell, Kevin P. ; Kröger, Stephan ; Talim, Beril ; Topaloglu, Haluk ; Quinlivan, Ros ; Roper, Helen ; Childs, Anne M. ; Kinali, Maria ; Sewry, Caroline A. ; Muntoni, FrancescoBrain pathology (Zurich, Switzerland), 2009-10, Vol.19 (4), p.596-611 [Periódico revisado por pares]Oxford, UK: Blackwell Publishing LtdTexto completo disponível |
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Material Type: Artigo
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Identification of a compound heterozygous missense mutation in LAMA2 gene from a patient with merosin‐deficient congenital muscular dystrophy type 1AKhorrami, Afshin ; Goleij, Pouya ; Karamad, Vahidreza ; Taheri, Elham ; Shadman, Behrouz ; Emami, Parisa ; Jahangirzadeh, Gholamreza ; Hajazimian, Saba ; Isazadeh, Alireza ; Baradaran, Behzad ; Heidari, MansourJournal of clinical laboratory analysis, 2021-11, Vol.35 (11), p.e23930-n/a [Periódico revisado por pares]United States: John Wiley & Sons, IncTexto completo disponível |
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Material Type: Artigo
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Third International Workshop for Glycosylation Defects in Muscular Dystrophies, 18-19 April 2013, Charlotte, USABlaeser, Anthony ; Sparks, Susan ; Brown, Susan C. ; Campbell, Kevin ; Lu, QiBrain pathology (Zurich, Switzerland), 2014-04, Vol.24 (3), p.280-284 [Periódico revisado por pares]Switzerland: Blackwell Publishing LtdTexto completo disponível |
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Material Type: Artigo
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Angiotensin‐dependent autonomic dysregulation precedes dilated cardiomyopathy in a mouse model of muscular dystrophySabharwal, Rasna ; Weiss, Robert M. ; Zimmerman, Kathy ; Domenig, Oliver ; Cicha, Michael Z. ; Chapleau, Mark W.Experimental physiology, 2015-07, Vol.100 (7), p.776-795 [Periódico revisado por pares]England: John Wiley & Sons, IncTexto completo disponível |
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Material Type: Artigo
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Targeted genetic therapies for inherited disorders that affect both cardiac and skeletal musclePsaras, Yiangos ; Toepfer, Christopher N.Experimental physiology, 2024-02, Vol.109 (2), p.175-189 [Periódico revisado por pares]England: John Wiley & Sons, IncTexto completo disponível |
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Material Type: Artigo
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Advances in genetic therapeutic strategies for Duchenne muscular dystrophyGuiraud, Simon ; Chen, Huijia ; Burns, David T. ; Davies, Kay E.Experimental physiology, 2015-12, Vol.100 (12), p.1458-1467 [Periódico revisado por pares]England: John Wiley & Sons, IncTexto completo disponível |
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Material Type: Artigo
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Cryptic exon activation caused by a novel deep‐intronic splice‐altering variant in Becker muscular dystrophyXie, Zhiying ; Lu, Yunlong ; Liu, Chang ; Sun, Chengyue ; Yu, Jiaxi ; Ling, Chen ; Luan, Xinghua ; Wang, Wei ; Wang, Li ; Liang, Yanhong ; Luo, Qianbo ; Meng, Lingchao ; Wang, Zhaoxia ; Yuan, YunJournal of clinical laboratory analysis, 2023-11, Vol.37 (21-22), p.e24987-n/a [Periódico revisado por pares]United States: John Wiley & Sons, IncTexto completo disponível |