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Lista de obras de Anna Buj-Bello

AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis

artículo científico publicado en 2008

Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype.

artículo científico publicado en 2002

Deletion of bothMTM1 andMTMR1 genes in a boy with myotubular myopathy

article

Gait characteristics in a canine model of X-linked myotubular myopathy

artículo científico publicado en 2014

Muscle-specific alternative splicing of myotubularin-related 1 gene is impaired in DM1 muscle cells

artículo científico publicado en 2002

Site-specific Mtm1 mutagenesis by an AAV-Cre vector reveals that myotubularin is essential in adult muscle ⬇️

artículo científico publicado el 5 de febrero de 2013

T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase

scholarly article

The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice

scientific journal article

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