143 results on '"Buj-Bello, Anna"'
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2. Neurotrophic actions of GDNF and neurturin in the developing avian nervous system and cloning and expression of their receptors
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3. Gait characteristics in a canine model of X-linked myotubular myopathy
4. Differential Muscle Hypertrophy Is Associated with Satellite Cell Numbers and Akt Pathway Activation Following Activin Type IIB Receptor Inhibition in Mtm1 p.R69C Mice
5. Myotubularin-Deficient Myoblasts Display Increased Apoptosis, Delayed Proliferation, and Poor Cell Engraftment
6. MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers
7. T-Tubule Disorganization and Defective Excitation-Contraction Coupling in Muscle Fibers Lacking Myotubularin Lipid Phosphatase
8. Inhibition of Activin Receptor Type IIB Increases Strength and Lifespan in Myotubularin-Deficient Mice
9. Phosphoinositide substrates of myotubularin affect voltage-activated Ca2+ release in skeletal muscle
10. Ultrasound assessment of the diaphragm: Preliminary study of a canine model of X-linked myotubular myopathy
11. Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor ( RYR1) gene
12. Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype
13. Site-specific Mtm1 mutagenesis by an AAV-Cre vector reveals that myotubularin is essential in adult muscle
14. Enzyme replacement therapy rescues weakness and improves muscle pathology in mice with X-linked myotubular myopathy
15. Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotype
16. Neurturin responsiveness requires a GPI-linked receptor and the Ret receptor tyrosine kinase
17. AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis
18. Characterization of a multicomponent receptor for GDNF
19. Muscle-specific alternative splicing of myotubularin-related 1 gene is impaired in DM1 muscle cells
20. Genotype–phenotype correlations in X-linked myotubular myopathy
21. The myotubularin family: from genetic disease to phosphoinositide metabolism
22. Differences and Developmental Changes in the Responsiveness of PNS Neurons to GDNF and Neurturin
23. 498. Prolonged Benefit from Systemic rAAV8 in a Canine Model of Myotubular Myopathy
24. 503. Minimally Effective Dose of Systemic AAV8-MTM1 Needed To Prolong Survival and Correct Severe Muscle Pathology in a Canine Model of X-Linked Myotubular Myopathy
25. Spatially Localized Disruptions of Voltage Activated Calcium Release in Mtm1-Deficient Muscle Fibers
26. Phosphoinositide substrates of myotubularin affect voltage-activated Ca2+ release in skeletal muscle
27. Gene Therapy Prolongs Survival and Restores Function in Murine and Canine Models of Myotubular Myopathy
28. Phosphoinositide substrates of myotubularin affect voltage-activated Ca2+ release in skeletal muscle
29. Neuromuscular Ultrasound for Diaphragm Assessment Following Gene Replacement Therapy in a Canine Model of X-Linked Myotubular Myopathy (XLMTM) (P05.083)
30. A Novel Method for Targeting Intramuscular Diaphragm Injections Using Ultrasound and Electromyography (P02.220)
31. Myotubular myopathy and the neuromuscular junction: a novel therapeutic approach from mouse models
32. Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotype
33. Modulation of Sarcoplasmic Reticulum Ca2+ Release by Phosphatidylinositol-Phosphate Lipids in Isolated Mouse Skeletal Muscle Fibers
34. Vici syndrome associated with sensorineural hearing loss and evidence of neuromuscular involvement on muscle biopsy
35. Impaired Sarcoplasmic Reticulum Calcium Release In Skeletal Muscle Fibers From Myotubularin-Deficient Mice
36. Erratum: Corrigendum: Cxorf6 is a causative gene for hypospadias
37. CXorf6 is a causative gene for hypospadias
38. Deletion of bothMTM1 andMTMR1 genes in a boy with myotubular myopathy
39. MTM1 mutations in X-linked myotubular myopathy
40. Identification of novel mutations in theMTM1 gene causing severe and mild forms of X-linked myotubular myopathy
41. GFRα-4, a New GDNF Family Receptor
42. Paracrine Interactions of BDNF Involving NGF-Dependent Embryonic Sensory Neurons
43. GDNF is an age-specific survival factor for sensory and autonomic neurons
44. Differential Muscle Hypertrophy Is Associated with Satellite Cell Numbers and Akt Pathway Activation Following Activin Type IIB Receptor Inhibition in Mtm1p.R69C Mice
45. Modulation of Sarcoplasmic Reticulum Ca 2+ Release by Phosphatidylinositol-Phosphate Lipids in Isolated Mouse Skeletal Muscle Fibers
46. Identification of novel mutations in the MTM1 gene causing severe and mild forms of X-linked myotubular myopathy.
47. Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human.
48. The survival of NGF-dependent but not BDNF-dependent cranial sensory neurons is promoted by several different neurotrophins early in their development
49. Deletion of both MTM1 and MTMR1 genes in a boy with myotubular myopathy
50. Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene
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