| P50 | author | Kristin A Ham | Q89510063 |
| P2093 | author name string | Steve D Wilton | |
| | Frederick J Schnell | |
| | Michel Tchan | |
| | Russell Johnsen | |
| | Sue Fletcher | |
| | May Thandar Aung-Htut | |
| P2860 | cites work | NIH Image to ImageJ: 25 years of image analysis | Q23319322 |
| | Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II | Q24314311 |
| | Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study | Q24643018 |
| | Identification of a missense mutation in one allele of a patient with Pompe disease, and use of endonuclease digestion of PCR-amplified RNA to demonstrate lack of mRNA expression from the second allele | Q24678812 |
| | Basic local alignment search tool | Q25938991 |
| | Nanoparticle delivery of antisense oligonucleotides and their application in the exon skipping strategy for Duchenne muscular dystrophy | Q26992271 |
| | Conditional tissue-specific expression of the acid alpha-glucosidase (GAA) gene in the GAA knockout mice: implications for therapy | Q28586585 |
| | GAA Deficiency in Pompe Disease Is Alleviated by Exon Inclusion in iPSC-Derived Skeletal Muscle Cells | Q33635336 |
| | Antisense Oligonucleotides Promote Exon Inclusion and Correct the Common c.-32-13T>G GAA Splicing Variant in Pompe Disease | Q33635367 |
| | Induced dystrophin exon skipping in human muscle explants | Q33998680 |
| | Pharmacokinetics, biodistribution, stability and toxicity of a cell-penetrating peptide-morpholino oligomer conjugate. | Q34004782 |
| | Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating | Q34011226 |
| | Resistance of morpholino phosphorodiamidate oligomers to enzymatic degradation | Q34064082 |
| | Systemic peptide-mediated oligonucleotide therapy improves long-term survival in spinal muscular atrophy | Q34540158 |
| | ISS-N1 makes the First FDA-approved Drug for Spinal Muscular Atrophy | Q34555103 |
| | Progress and challenges of gene therapy for Pompe disease | Q92487813 |
| | A genetic modifier of symptom onset in Pompe disease | Q92685738 |
| | Pompe disease diagnosis and management guideline. | Q34567528 |
| | Consensus treatment recommendations for late-onset Pompe disease | Q34634354 |
| | Improved antisense oligonucleotide design to suppress aberrant SMN2 gene transcript processing: towards a treatment for spinal muscular atrophy | Q34695728 |
| | Base substitution in an intervening sequence of a beta+-thalassemic human globin gene | Q35351033 |
| | Wild-type mouse models to screen antisense oligonucleotides for exon-skipping efficacy in Duchenne muscular dystrophy | Q35388411 |
| | β-Actin specifically controls cell growth, migration, and the G-actin pool | Q35475014 |
| | Phase I/II trial of adeno-associated virus-mediated alpha-glucosidase gene therapy to the diaphragm for chronic respiratory failure in Pompe disease: initial safety and ventilatory outcomes | Q36945774 |
| | Pompe's disease | Q37302098 |
| | High efficiency myogenic conversion of human fibroblasts by adenoviral vector-mediated MyoD gene transfer. An alternative strategy for ex vivo gene therapy of primary myopathies | Q37381930 |
| | Low-Dose Liver-Targeted Gene Therapy for Pompe Disease Enhances Therapeutic Efficacy of ERT via Immune Tolerance Induction | Q37717893 |
| | Targeting Cancer Cells Using LNA-Modified Aptamer-siRNA Chimeras | Q38838397 |
| | Long-term, high-level hepatic secretion of acid α-glucosidase for Pompe disease achieved in non-human primates using helper-dependent adenovirus. | Q38846270 |
| | Phenotypes and Genotypes in Five Children with Congenital Insensitivity to Pain with Anhidrosis | Q38855972 |
| | Survival and long-term outcomes in late-onset Pompe disease following alglucosidase alfa treatment: a systematic review and meta-analysis. | Q38884347 |
| | A novel morpholino oligomer targeting ISS-N1 improves rescue of severe spinal muscular atrophy transgenic mice | Q39350652 |
| | HSCs play a distinct role in different phases of oval cell-mediated liver regeneration | Q39358444 |
| | Comparative analysis of antisense oligonucleotide sequences for targeted skipping of exon 51 during dystrophin pre-mRNA splicing in human muscle | Q40177871 |
| | Correlation of acid alpha-glucosidase and glycogen content in skin fibroblasts with age of onset in Pompe disease | Q40402709 |
| | Residual acid maltase activity in late-onset acid maltase deficiency | Q40475100 |
| | A model of mRNA splicing in adult lysosomal storage disease (glycogenosis type II). | Q41187734 |
| | A de novo 13 nt deletion, a newly identified C647W missense mutation and a deletion of exon 18 in infantile onset glycogen storage disease type II (GSDII). | Q41458193 |
| | Pip6-PMO, A New Generation of Peptide-oligonucleotide Conjugates With Improved Cardiac Exon Skipping Activity for DMD Treatment. | Q41890992 |
| | Cellular uptake of antisense morpholino oligomers conjugated to arginine-rich peptides. | Q42830661 |
| | Eteplirsen for the treatment of Duchenne muscular dystrophy | Q45855674 |
| | Antisense oligonucleotide-induced exon skipping restores dystrophin expression in vitro in a canine model of DMD. | Q45858623 |
| | A common base method for analysis of qPCR data and the application of simple blocking in qPCR experiments | Q47119550 |
| | Aberrant splicing in adult onset glycogen storage disease type II (GSDII): molecular identification of an IVS1 (-13T-->G) mutation in a majority of patients and a novel IVS10 (+1GT-->CT) mutation | Q47217697 |
| | New mutations and genotype-phenotype correlation in late-onset Pompe patients. | Q47596630 |
| | Glycogen Reduction in Myotubes of Late-Onset Pompe Disease Patients Using Antisense Technology | Q48004397 |
| | SpliceAid: a database of experimental RNA target motifs bound by splicing proteins in humans. | Q48070910 |
| | Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens | Q49203017 |
| | Observational clinical study of 22 adult-onset Pompe disease patients undergoing enzyme replacement therapy over 5years. | Q51547323 |
| | Aerobic training as an adjunctive therapy to enzyme replacement in Pompe disease. | Q53811463 |
| | Twenty-two novel mutations in the lysosomal ?-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II | Q56234359 |
| | Homozygous deletion of exon 18 leads to degradation of the lysosomal alpha-glucosidase precursor and to the infantile form of glycogen storage disease type II | Q71711285 |
| | Pompe disease (glycogen storage disease type II) in Argentineans: clinical manifestations and identification of 9 novel mutations | Q79286737 |
| | Development of a clinical assay for detection of GAA mutations and characterization of the GAA mutation spectrum in a Canadian cohort of individuals with glycogen storage disease, type II | Q80851946 |
| | Molecular diagnosis of German patients with late-onset glycogen storage disease type II | Q81597463 |
| | Strategies for Neoglycan conjugation to human acid α-glucosidase | Q83644028 |
| | Novel Mutations Found in Individuals with Adult-Onset Pompe Disease | Q89510065 |
| | Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease | Q90612034 |
| | E2F4 regulates transcriptional activation in mouse embryonic stem cells independently of the RB family | Q91594280 |
| | Safety, tolerability, pharmacokinetics, pharmacodynamics, and exploratory efficacy of the novel enzyme replacement therapy avalglucosidase alfa (neoGAA) in treatment-naïve and alglucosidase alfa-treated patients with late-onset Pompe disease: A phas | Q91632129 |
| | Treating lysosomal storage disorders: What have we learnt? | Q92368056 |
| P4510 | describes a project that uses | ImageJ | Q1659584 |
| P433 | issue | 1 | |
| P304 | page(s) | 6702 | |
| P577 | publication date | 2020-04-21 | |
| P1433 | published in | Scientific Reports | Q2261792 |
| P1476 | title | Splice modulating antisense oligonucleotides restore some acid-alpha-glucosidase activity in cells derived from patients with late-onset Pompe disease | |
| P478 | volume | 10 | |