50 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
3. Differential Muscle Hypertrophy Is Associated with Satellite Cell Numbers and Akt Pathway Activation Following Activin Type IIB Receptor Inhibition in Mtm1 p.R69C Mice
4. Myotubularin-Deficient Myoblasts Display Increased Apoptosis, Delayed Proliferation, and Poor Cell Engraftment
5. MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers
6. T-Tubule Disorganization and Defective Excitation-Contraction Coupling in Muscle Fibers Lacking Myotubularin Lipid Phosphatase
7. Phosphoinositide substrates of myotubularin affect voltage-activated Ca2+ release in skeletal muscle
8. Ultrasound assessment of the diaphragm: Preliminary study of a canine model of X-linked myotubular myopathy
9. Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype
10. Site-specific Mtm1 mutagenesis by an AAV-Cre vector reveals that myotubularin is essential in adult muscle
11. Enzyme replacement therapy rescues weakness and improves muscle pathology in mice with X-linked myotubular myopathy
12. Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotype
13. Neurturin responsiveness requires a GPI-linked receptor and the Ret receptor tyrosine kinase
14. AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis
15. Characterization of a multicomponent receptor for GDNF
16. Muscle-specific alternative splicing of myotubularin-related 1 gene is impaired in DM1 muscle cells
17. 498. Prolonged Benefit from Systemic rAAV8 in a Canine Model of Myotubular Myopathy
18. 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
19. Spatially Localized Disruptions of Voltage Activated Calcium Release in Mtm1-Deficient Muscle Fibers
20. Phosphoinositide substrates of myotubularin affect voltage-activated Ca2+ release in skeletal muscle
21. Gait characteristics in a canine model of X-linked myotubular myopathy
22. Gene Therapy Prolongs Survival and Restores Function in Murine and Canine Models of Myotubular Myopathy
23. Phosphoinositide substrates of myotubularin affect voltage-activated Ca2+ release in skeletal muscle
24. Neuromuscular Ultrasound for Diaphragm Assessment Following Gene Replacement Therapy in a Canine Model of X-Linked Myotubular Myopathy (XLMTM) (P05.083)
25. A Novel Method for Targeting Intramuscular Diaphragm Injections Using Ultrasound and Electromyography (P02.220)
26. Myotubular myopathy and the neuromuscular junction: a novel therapeutic approach from mouse models
27. Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotype
28. Modulation of Sarcoplasmic Reticulum Ca2+ Release by Phosphatidylinositol-Phosphate Lipids in Isolated Mouse Skeletal Muscle Fibers
29. Inhibition of Activin Receptor Type IIB Increases Strength and Lifespan in Myotubularin-Deficient Mice
30. Vici syndrome associated with sensorineural hearing loss and evidence of neuromuscular involvement on muscle biopsy
31. Impaired Sarcoplasmic Reticulum Calcium Release In Skeletal Muscle Fibers From Myotubularin-Deficient Mice
32. Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene
33. Erratum: Corrigendum: Cxorf6 is a causative gene for hypospadias
34. CXorf6 is a causative gene for hypospadias
35. Deletion of bothMTM1 andMTMR1 genes in a boy with myotubular myopathy
36. Genotype–phenotype correlations in X-linked myotubular myopathy
37. MTM1 mutations in X-linked myotubular myopathy
38. Identification of novel mutations in theMTM1 gene causing severe and mild forms of X-linked myotubular myopathy
39. Differences and Developmental Changes in the Responsiveness of PNS Neurons to GDNF and Neurturin
40. GFRα-4, a New GDNF Family Receptor
41. Paracrine Interactions of BDNF Involving NGF-Dependent Embryonic Sensory Neurons
42. GDNF is an age-specific survival factor for sensory and autonomic neurons
43. Differential Muscle Hypertrophy Is Associated with Satellite Cell Numbers and Akt Pathway Activation Following Activin Type IIB Receptor Inhibition in Mtm1p.R69C Mice
44. Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human.
45. Identification of novel mutations in the MTM1 gene causing severe and mild forms of X-linked myotubular myopathy.
46. Deletion of both MTM1 and MTMR1 genes in a boy with myotubular myopathy
47. Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene
48. Corrigendum: Cxorf6 is a causative gene for hypospadias.
49. Modulation of Sarcoplasmic Reticulum Ca2+Release by Phosphatidylinositol-Phosphate Lipids in Isolated Mouse Skeletal Muscle Fibers
50. Phosphoinositide substrates of myotubularin affect voltage-activated Ca²⁺ release in skeletal muscle.
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