Detalhe da pesquisa
1.
Disrupted T-tubular network accounts for asynchronous calcium release in MTM1-deficient skeletal muscle.
J Physiol
; 601(1): 99-121, 2023 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36408764
2.
AAV-Mediated Gene Transfer Restores a Normal Muscle Transcriptome in a Canine Model of X-Linked Myotubular Myopathy.
Mol Ther
; 28(2): 382-393, 2020 02 05.
Artigo
Inglês
| MEDLINE | ID: mdl-31784415
3.
Genome Editing of Expanded CTG Repeats within the Human DMPK Gene Reduces Nuclear RNA Foci in the Muscle of DM1 Mice.
Mol Ther
; 27(8): 1372-1388, 2019 08 07.
Artigo
Inglês
| MEDLINE | ID: mdl-31253581
4.
Phosphatidylinositol 3-kinase inhibition restores Ca2+ release defects and prolongs survival in myotubularin-deficient mice.
Proc Natl Acad Sci U S A
; 113(50): 14432-14437, 2016 12 13.
Artigo
Inglês
| MEDLINE | ID: mdl-27911767
5.
Systemic AAV8-Mediated Gene Therapy Drives Whole-Body Correction of Myotubular Myopathy in Dogs.
Mol Ther
; 25(4): 839-854, 2017 04 05.
Artigo
Inglês
| MEDLINE | ID: mdl-28237839
6.
Long-term effects of systemic gene therapy in a canine model of myotubular myopathy.
Muscle Nerve
; 56(5): 943-953, 2017 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-28370029
7.
Expression of myotubularins in blood platelets: Characterization and potential diagnostic of X-linked myotubular myopathy.
Biochem Biophys Res Commun
; 476(3): 167-73, 2016 07 29.
Artigo
Inglês
| MEDLINE | ID: mdl-27155155
8.
The myotubular and centronuclear myopathy patient registry: a multifunctional tool for translational research.
Neuromuscul Disord
; 35: 42-52, 2024 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-38061948
9.
Safety and efficacy of gene replacement therapy for X-linked myotubular myopathy (ASPIRO): a multinational, open-label, dose-escalation trial.
Lancet Neurol
; 22(12): 1125-1139, 2023 12.
Artigo
Inglês
| MEDLINE | ID: mdl-37977713
10.
Semirational bioengineering of AAV vectors with increased potency and specificity for systemic gene therapy of muscle disorders.
Sci Adv
; 8(38): eabn4704, 2022 09 23.
Artigo
Inglês
| MEDLINE | ID: mdl-36129972
11.
Characterization of Neuromuscular Junctions in Mice by Combined Confocal and Super-Resolution Microscopy.
J Vis Exp
; (178)2021 12 08.
Artigo
Inglês
| MEDLINE | ID: mdl-34958074
12.
Recent Progress in Genome Editing for Gene Therapy Applications: The French Perspective.
Hum Gene Ther
; 32(19-20): 1059-1075, 2021 10.
Artigo
Inglês
| MEDLINE | ID: mdl-34494480
13.
Ca2+-induced sarcoplasmic reticulum Ca2+ release in myotubularin-deficient muscle fibers.
Cell Calcium
; 80: 91-100, 2019 06.
Artigo
Inglês
| MEDLINE | ID: mdl-30999217
14.
X-linked myotubular myopathy: A prospective international natural history study.
Neurology
; 92(16): e1852-e1867, 2019 04 16.
Artigo
Inglês
| MEDLINE | ID: mdl-30902907
15.
Intravenous Administration of a MTMR2-Encoding AAV Vector Ameliorates the Phenotype of Myotubular Myopathy in Mice.
J Neuropathol Exp Neurol
; 77(4): 282-295, 2018 04 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29408998
16.
Downregulation of myostatin pathway in neuromuscular diseases may explain challenges of anti-myostatin therapeutic approaches.
Nat Commun
; 8(1): 1859, 2017 11 30.
Artigo
Inglês
| MEDLINE | ID: mdl-29192144
17.
Efficacy and biodistribution analysis of intracerebroventricular administration of an optimized scAAV9-SMN1 vector in a mouse model of spinal muscular atrophy.
Mol Ther Methods Clin Dev
; 3: 16060, 2016.
Artigo
Inglês
| MEDLINE | ID: mdl-27652289
18.
Skeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review With Cross-Species Comparisons.
J Neuropathol Exp Neurol
; 75(2): 102-10, 2016 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-26823526
19.
PIK3C2B inhibition improves function and prolongs survival in myotubular myopathy animal models.
J Clin Invest
; 126(9): 3613-25, 2016 09 01.
Artigo
Inglês
| MEDLINE | ID: mdl-27548528
20.
Gene replacement rescues severe muscle pathology and prolongs survival in myotubularin-deficient mice and dogs.
Ann Transl Med
; 3(17): 257, 2015 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-26605303