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Validity of a Neurological Scoring System for Canine X-Linked Myotubular MyopathyGait characteristics in a canine model of X-linked myotubular myopathyLoss of myotubularin function results in T-tubule disorganization in zebrafish and human myotubular myopathyLoss of catalytically inactive lipid phosphatase myotubularin-related protein 12 impairs myotubularin stability and promotes centronuclear myopathy in zebrafishMutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathyAAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasisDigastric Muscle Phenotypes of the Ts65Dn Mouse Model of Down SyndromeActivation of paternally expressed genes and perinatal death caused by deletion of the Gtl2 geneControl of autophagy initiation by phosphoinositide 3-phosphatase JumpyZebrafish MTMR14 is required for excitation-contraction coupling, developmental motor function and the regulation of autophagy.In vivo imaging of skeletal muscle in mice highlights muscle defects in a model of myotubular myopathy.Differential muscle hypertrophy is associated with satellite cell numbers and Akt pathway activation following activin type IIB receptor inhibition in Mtm1 p.R69C miceSPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathyMTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers.Membrane traffic and muscle: lessons from human diseaseCase report of intrafamilial variability in autosomal recessive centronuclear myopathy associated to a novel BIN1 stop mutation.N-WASP is required for Amphiphysin-2/BIN1-dependent nuclear positioning and triad organization in skeletal muscle and is involved in the pathophysiology of centronuclear myopathy.Inhibition of activin receptor type IIB increases strength and lifespan in myotubularin-deficient mice.X-linked myotubular myopathy in a family with two infant siblings: a case with MTM1 mutation.Talin 1 and 2 are required for myoblast fusion, sarcomere assembly and the maintenance of myotendinous junctions.Clinical phenotype of X-linked myotubular myopathy in Labrador Retriever puppies.X-linked myotubular myopathy in Rottweiler dogs is caused by a missense mutation in Exon 11 of the MTM1 geneModeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotypeMyofiber size correlates with MTM1 mutation type and outcome in X-linked myotubular myopathyMyotubularin-deficient myoblasts display increased apoptosis, delayed proliferation, and poor cell engraftment.Myotubular myopathy and the neuromuscular junction: a novel therapeutic approach from mouse models.Two Cases of X-Linked Myotubular Myopathy with Novel MTM1 Mutations.Large duplication in MTM1 associated with myotubular myopathy.Enzyme replacement therapy rescues weakness and improves muscle pathology in mice with X-linked myotubular myopathy.X-linked recessive myotubular myopathy with MTM1 mutationsSynthesis and function of membrane phosphoinositides in budding yeast, Saccharomyces cerevisiaeDetection and imaging of non-contractile inclusions and sarcomeric anomalies in skeletal muscle by second harmonic generation combined with two-photon excited fluorescence.Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers.T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphataseConsensus statement on standard of care for congenital myopathies.Novel excitation-contraction coupling related genes reveal aspects of muscle weakness beyond atrophy-new hopes for treatment of musculoskeletal diseasesA rare case of centronuclear myopathy with DNM2 mutation: genotype-phenotype correlation.A newborn with spinal muscular atrophy type 0 presenting with a clinicopathological picture suggestive of myotubular myopathy.Congenital myopathies: clinical phenotypes and new diagnostic tools.A multicenter, retrospective medical record review of X-linked myotubular myopathy: The recensus study.
P2860
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P2860
description
2005 nî lūn-bûn
@nan
2005 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
X-linked myotubular and centronuclear myopathies
@ast
X-linked myotubular and centronuclear myopathies
@en
X-linked myotubular and centronuclear myopathies
@nl
type
label
X-linked myotubular and centronuclear myopathies
@ast
X-linked myotubular and centronuclear myopathies
@en
X-linked myotubular and centronuclear myopathies
@nl
prefLabel
X-linked myotubular and centronuclear myopathies
@ast
X-linked myotubular and centronuclear myopathies
@en
X-linked myotubular and centronuclear myopathies
@nl
P2093
P3181
P1476
X-linked myotubular and centronuclear myopathies
@en
P2093
Alan H Beggs
Behzad Moghadaszadeh
Christopher R Pierson
Kinga Tomczak
Pankaj Agrawal
P304
P3181
P356
10.1097/01.JNEN.0000171653.17213.2E
P407
P577
2005-07-01T00:00:00Z