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Material Type: Artigo
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Limb-girdle muscular dystrophies - from genetics to molecular pathologyLaval, S. H. ; Bushby, K. M. D.Neuropathology and applied neurobiology, 2004-04, Vol.30 (2), p.91-105 [Periódico revisado por pares]Oxford, UK: Blackwell Science LtdTexto completo disponível |
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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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‘Set the controls…’ – phenotype matching beyond genetics in muscular dystrophyFriedrich, OliverExperimental physiology, 2014-04, Vol.99 (4), p.638-639 [Periódico revisado por pares]England: John Wiley & Sons, IncTexto completo disponível |
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Material Type: Artigo
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Natural disease history of the D2‐mdx mouse model for Duchenne muscular dystrophyPutten, Maaike ; Putker, Kayleigh ; Overzier, Maurice ; Adamzek, W. A. ; Pasteuning-Vuhman, Svetlana ; Plomp, Jaap J. ; Aartsma-Rus, AnnemiekeThe FASEB journal, 2019-07, Vol.33 (7), p.8110-8124 [Periódico revisado por pares]United States: Federation of American Societies for Experimental BiologyTexto completo disponível |
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Material Type: Artigo
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Clinical exome sequencing in the diagnosis of pediatric neuromuscular diseaseHerman, Isabella ; Lopez, Michael A. ; Marafi, Dana ; Pehlivan, Davut ; Calame, Daniel G. ; Abid, Farida ; Lotze, Timothy E.Muscle & nerve, 2021-03, Vol.63 (3), p.304-310 [Periódico revisado por pares]Hoboken, USA: John Wiley & Sons, IncTexto completo disponível |
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Material Type: Artigo
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NOTCH2NLC‐related oculopharyngodistal myopathy type 3 with cardiomyopathy and nephropathyGu, Xinyu ; Yue, Dongyue ; Qiao, Kai ; Huang, Guoqian ; Zhu, Wenhua ; Xi, Jianying ; Zhu, HuiMuscle & nerve, 2023-05, Vol.67 (5), p.E18-E21 [Periódico revisado por pares]Hoboken, USA: John Wiley & Sons, IncTexto completo disponível |
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Material Type: Artigo
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Genome sequencing detects a balanced pericentric inversion with breakpoints that impact the DMD and upstream region of POU3F4 genesChandrasekhar, Anjana ; Mroczkowski, Henry J. ; Urraca, Nora ; Gross, Andrew ; Bluske, Krista ; Thorpe, Erin ; Hagelstrom, R. Tanner ; Schonberg, Steven A. ; Perry, Denise L. ; Taft, Ryan J. ; Kesari, AkanchhaAmerican journal of medical genetics. Part A, 2024-03, Vol.194 (3), p.e63462-n/a [Periódico revisado por pares]Hoboken, USA: John Wiley & Sons, IncTexto completo disponível |
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Material Type: Artigo
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Therapeutic advances in muscular dystrophyLeung, Doris G. ; Wagner, Kathryn R.Annals of neurology, 2013-09, Vol.74 (3), p.404-411 [Periódico revisado por pares]United States: Blackwell Publishing LtdTexto completo disponível |
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Material Type: Artigo
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Mutational spectrum of dystrophinopathies in Singapore: Insights for genetic diagnosis and precision therapyTomar, Swati ; Moorthy, Vikaesh ; Sethi, Raman ; Chai, Josiah ; Low, Poh Sim ; Hong, Stacey Tay Kiat ; Lai, Poh SanAmerican journal of medical genetics. Part C, Seminars in medical genetics, 2019-06, Vol.181 (2), p.230-244Hoboken, USA: John Wiley & Sons, IncTexto completo disponível |
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Material Type: Artigo
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Fibronectin is a serum biomarker for Duchenne muscular dystrophyCynthia Martin, F. ; Hiller, Monika ; Spitali, Pietro ; Oonk, Stijn ; Dalebout, Hans ; Palmblad, Magnus ; Chaouch, Amina ; Guglieri, Michela ; Straub, Volker ; Lochmüller, Hanns ; Niks, Erik H. ; Verschuuren, Jan J. G. M. ; Aartsma-Rus, Annemieke ; Deelder, André M. ; van der Burgt, Yuri E. M. ; 't Hoen, Peter A. C.Proteomics. Clinical applications, 2014-04, Vol.8 (3-4), p.269-278 [Periódico revisado por pares]Germany: Blackwell Publishing LtdTexto completo disponível |