Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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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 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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3 |
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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4 |
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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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 |
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Material Type: Artigo
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Mutation update: The spectra of PLEC sequence variants and related plectinopathiesVahidnezhad, Hassan ; Youssefian, Leila ; Harvey, Nailah ; Tavasoli, Ali Reza ; Saeidian, Amir Hossein ; Sotoudeh, Soheila ; Varghaei, Aida ; Mahmoudi, Hamidreza ; Mansouri, Parvin ; Mozafari, Nikoo ; Zargari, Omid ; Zeinali, Sirous ; Uitto, JouniHuman mutation, 2022-12, Vol.43 (12), p.1706-1731 [Periódico revisado por pares]United States: Hindawi LimitedTexto completo disponível |
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8 |
Material Type: Artigo
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Novel autosomal recessive LAMA3 and PLEC variants underlie junctional epidermolysis bullosa generalized intermediate and epidermolysis bullosa simplex with muscular dystrophy in two consanguineous familiesAhmad, F. ; Shah, K. ; Umair, M. ; Jan, A. ; Irfanullah ; Khan, S. ; Muhammad, D. ; Basit, S. ; Wakil, S. M. ; Ramzan, K. ; Ahmad, W.Clinical and experimental dermatology, 2018-08, Vol.43 (6), p.752-755 [Periódico revisado por pares]England: Oxford University PressTexto completo disponível |
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9 |
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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10 |
Material Type: Artigo
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Phenotypic spectrum associated with mutations in the fukutin-related protein geneMercuri, Eugenio ; Brockington, Martin ; Straub, Volker ; Quijano-Roy, Susana ; Yuva, Yeliz ; Herrmann, Ralf ; Brown, Susan C. ; Torelli, Silvia ; Dubowitz, Victor ; Blake, Derek J. ; Romero, Norma B. ; Estournet, Brigitte ; Sewry, Caroline A. ; Guicheney, Pascale ; Voit, Thomas ; Muntoni, FrancescoAnnals of neurology, 2003-04, Vol.53 (4), p.537-542 [Periódico revisado por pares]New York: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |