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One or more keywords matched the following items that are connected to Beggs, Alan
Item TypeName
Academic Article Myofiber size correlates with MTM1 mutation type and outcome in X-linked myotubular myopathy.
Academic Article MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers.
Academic Article Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion.
Academic Article Large duplication in MTM1 associated with myotubular myopathy.
Academic Article Enzyme replacement therapy rescues weakness and improves muscle pathology in mice with X-linked myotubular myopathy.
Academic Article X-linked myotubular and centronuclear myopathies.
Academic Article Muscle function in a canine model of X-linked myotubular myopathy.
Academic Article Clinical utility gene card for: Centronuclear and myotubular myopathies.
Academic Article Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.
Academic Article Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotype.
Academic Article Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores.
Academic Article Mutations in dynamin 2 cause dominant centronuclear myopathy.
Academic Article AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis.
Academic Article Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle.
Academic Article Myotubular myopathy and the neuromuscular junction: a novel therapeutic approach from mouse models.
Concept Myopathies, Structural, Congenital
Academic Article Loss of catalytically inactive lipid phosphatase myotubularin-related protein 12 impairs myotubularin stability and promotes centronuclear myopathy in zebrafish.
Academic Article Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.
Academic Article Gene therapy prolongs survival and restores function in murine and canine models of myotubular myopathy.
Academic Article Bridging integrator 1 (Bin1) deficiency in zebrafish results in centronuclear myopathy.
Academic Article Differential muscle hypertrophy is associated with satellite cell numbers and Akt pathway activation following activin type IIB receptor inhibition in Mtm1 p.R69C mice.
Academic Article SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy.
Academic Article An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.
Academic Article Ultrasound assessment of the diaphragm: Preliminary study of a canine model of X-linked myotubular myopathy.
Academic Article Gait characteristics in a canine model of X-linked myotubular myopathy.
Academic Article X-linked myotubular myopathy in Rottweiler dogs is caused by a missense mutation in Exon 11 of the MTM1 gene.
Academic Article Clinical phenotype of X-linked myotubular myopathy in Labrador Retriever puppies.
Academic Article Muscle pathology, limb strength, walking gait, respiratory function and neurological impairment establish disease progression in the p.N155K canine model of X-linked myotubular myopathy.
Academic Article Skeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review With Cross-Species Comparisons.
Grant Genes and Therapies for Centronuclear Myopathies
Grant Pathogenesis and Treatment of Muscular Dystrophy
Academic Article Systemic AAV8-Mediated Gene Therapy Drives Whole-Body Correction of Myotubular Myopathy in Dogs.
Academic Article Long-term effects of systemic gene therapy in a canine model of myotubular myopathy.
Academic Article A natural history study of X-linked myotubular myopathy.
Academic Article A multicenter, retrospective medical record review of X-linked myotubular myopathy: The recensus study.
Academic Article Dysfunctional sarcomere contractility contributes to muscle weakness in ACTA1-related nemaline myopathy (NEM3).
Academic Article SPEG-deficient skeletal muscles exhibit abnormal triad and defective calcium handling.
Academic Article MYL2-associated congenital fiber-type disproportion and cardiomyopathy with variants in additional neuromuscular disease genes; the dilemma of panel testing.
Academic Article Mortality and respiratory support in X-linked myotubular myopathy: a RECENSUS retrospective analysis.
Search Criteria
  • Myopathies Structural Congenital
Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.