| P2093 | author name string | Jianjun Guo | |
| | Michael W Lawlor | |
| | Martin K Childers | |
| | Robert W Grange | |
| | John T Gray | |
| | David L Mack | |
| | Ana Buj-Bello | |
| | Karine Poulard | |
| | Virginie Latournerie | |
| | Edith Renaud-Gabardos | |
| | Jean-Baptiste Dupont | |
| P2860 | cites work | Skeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review With Cross-Species Comparisons | Q26773024 |
| | Loss of myotubularin function results in T-tubule disorganization in zebrafish and human myotubular myopathy | Q27313067 |
| | edgeR: a Bioconductor package for differential expression analysis of digital gene expression data | Q27860819 |
| | A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast | Q28279868 |
| | AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis | Q28508977 |
| | Lack of myotubularin (MTM1) leads to muscle hypotrophy through unbalanced regulation of the autophagy and ubiquitin-proteasome pathways | Q28586271 |
| | Nrk: a murine X-linked NIK (Nck-interacting kinase)-related kinase gene expressed in skeletal muscle | Q28591746 |
| | The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice | Q28592271 |
| | Site-specific Mtm1 mutagenesis by an AAV-Cre vector reveals that myotubularin is essential in adult muscle | Q28594457 |
| | limma powers differential expression analyses for RNA-sequencing and microarray studies | Q29617988 |
| | Gene transcripts associated with muscle strength: a CHARGE meta-analysis of 7,781 persons | Q30713071 |
| | Human APE2 protein is mostly localized in the nuclei and to some extent in the mitochondria, while nuclear APE2 is partly associated with proliferating cell nuclear antigen | Q31919701 |
| | Systemic injection of AAV9-GDNF provides modest functional improvements in the SOD1G93A ALS rat but has adverse side effects. | Q33600773 |
| | Differential muscle hypertrophy is associated with satellite cell numbers and Akt pathway activation following activin type IIB receptor inhibition in Mtm1 p.R69C mice | Q33708695 |
| | Gene therapy prolongs survival and restores function in murine and canine models of myotubular myopathy. | Q33926944 |
| | MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers | Q34093219 |
| | featureCounts: an efficient general purpose program for assigning sequence reads to genomic features | Q34384848 |
| | Inhibition of activin receptor type IIB increases strength and lifespan in myotubularin-deficient mice | Q34756083 |
| | Myotubularin regulates Akt-dependent survival signaling via phosphatidylinositol 3-phosphate | Q35011121 |
| | Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotype | Q35688645 |
| | Comprehensive target capture/next-generation sequencing as a second-tier diagnostic approach for congenital muscular dystrophy in Taiwan | Q36275198 |
| | Myotubular myopathy and the neuromuscular junction: a novel therapeutic approach from mouse models. | Q36359231 |
| | Extensive morphological and immunohistochemical characterization in myotubular myopathy. | Q37407306 |
| | T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase | Q37413460 |
| | Phosphatidylinositol 3-kinase inhibition restores Ca2+ release defects and prolongs survival in myotubularin-deficient mice | Q37515114 |
| | Muscle-specific CRISPR/Cas9 dystrophin gene editing ameliorates pathophysiology in a mouse model for Duchenne muscular dystrophy | Q37651944 |
| | PABPN1 gene therapy for oculopharyngeal muscular dystrophy | Q37737844 |
| | A natural history study of X-linked myotubular myopathy | Q38607699 |
| | AAV-mediated transfer of FKRP shows therapeutic efficacy in a murine model but requires control of gene expression. | Q38882219 |
| | Elevated serum angiopoietin-like protein 2 correlates with the metastatic properties of colorectal cancer: a serum biomarker for early diagnosis and recurrence | Q38949774 |
| | Linking amyotrophic lateral sclerosis and spinal muscular atrophy through RNA-transcriptome homeostasis: a genomics perspective | Q39039061 |
| | Myotubularin and PtdIns3P remodel the sarcoplasmic reticulum in muscle in vivo | Q39187932 |
| | Long-term microdystrophin gene therapy is effective in a canine model of Duchenne muscular dystrophy. | Q40109350 |
| | Long-term effects of systemic gene therapy in a canine model of myotubular myopathy | Q40261444 |
| | Systemic AAV-Mediated β-Sarcoglycan Delivery Targeting Cardiac and Skeletal Muscle Ameliorates Histological and Functional Deficits in LGMD2E Mice | Q40296355 |
| | Systemic AAV8-Mediated Gene Therapy Drives Whole-Body Correction of Myotubular Myopathy in Dogs | Q40318313 |
| | Dystrophin immunity in Duchenne's muscular dystrophy. | Q41590387 |
| | Corrigendum: Muscle-specific CRISPR/Cas9 dystrophin gene editing ameliorates pathophysiology in a mouse model for Duchenne muscular dystrophy | Q42333731 |
| | Improving genetic diagnosis in Mendelian disease with transcriptome sequencing | Q42343467 |
| | Correction: Comprehensive target capture/next-generation sequencing as a second-tier diagnostic approach for congenital muscular dystrophy in Taiwan | Q42344499 |
| | Defective autophagy and mTORC1 signaling in myotubularin null mice | Q42531367 |
| | Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy | Q45873849 |
| | Age-dependent increase in angiopoietin-like protein 2 accelerates skeletal muscle loss in mice | Q46250710 |
| | Transcriptome profiling identifies regulators of pathogenesis in collagen VI related muscular dystrophy | Q47096174 |
| | Downregulation of myostatin pathway in neuromuscular diseases may explain challenges of anti-myostatin therapeutic approaches | Q47105209 |
| | A multicenter, retrospective medical record review of X-linked myotubular myopathy: The recensus study | Q47577667 |
| | The MTM1-UBQLN2-HSP complex mediates degradation of misfolded intermediate filaments in skeletal muscle. | Q48190393 |
| | Growth retardation and dyslymphopoiesis accompanied by G2/M arrest in APEX2-null mice. | Q54705178 |
| | Gene expression analyses in X-linked myotubular myopathy | Q58036374 |
| | Tamoxifen therapy in a murine model of myotubular myopathy | Q59134779 |
| P4510 | describes a project that uses | RStudio | Q4798119 |
| P433 | issue | 2 | |
| P921 | main subject | X-linked myotubular myopathy | Q3331454 |
| P304 | page(s) | 382-393 | |
| P577 | publication date | 2019-11-11 | |
| P1433 | published in | Molecular Therapy | Q15762400 |
| P1476 | title | AAV-Mediated Gene Transfer Restores a Normal Muscle Transcriptome in a Canine Model of X-Linked Myotubular Myopathy | |
| P478 | volume | 28 | |