| scholarly article | Q13442814 |
| P819 | ADS bibcode | 2009PNAS..106.9419D |
| P356 | DOI | 10.1073/PNAS.0902534106 |
| P932 | PMC publication ID | 2695054 |
| P698 | PubMed publication ID | 19474295 |
| P5875 | ResearchGate publication ID | 26245653 |
| P2093 | author name string | David D Fuller | |
| Barry J Byrne | |||
| Paul J Reier | |||
| Kai Qiu | |||
| Keith C DeRuisseau | |||
| Lara R DeRuisseau | |||
| Cathryn Mah | |||
| William H Donnelly | |||
| P2860 | cites work | Clinical and metabolic correction of pompe disease by enzyme therapy in acid maltase-deficient quail | Q24564823 |
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| Targeted disruption of the acid alpha-glucosidase gene in mice causes an illness with critical features of both infantile and adult human glycogen storage disease type II | Q28592264 | ||
| On the barometric method for measurements of ventilation, and its use in small animals | Q33547584 | ||
| Episodic but not continuous hypoxia elicits long-term facilitation of phrenic motor output in rats | Q33925442 | ||
| Development of obstruction to ventricular outflow and impairment of inflow in glycogen storage disease of the heart: serial echocardiographic studies from birth to death at 6 months | Q34002428 | ||
| Glycogen disease of skeletal muscle; report of two cases and review of literature | Q35531389 | ||
| Murine acid alpha-glucosidase: cell-specific mRNA differential expression during development and maturation | Q35786827 | ||
| Glycogen disease resembling mongolism, cretinism, and amytonia congenita; case report and review of literature | Q35898188 | ||
| The natural course of non-classic Pompe's disease; a review of 225 published cases | Q36245480 | ||
| New therapeutic options for lysosomal storage disorders: enzyme replacement, small molecules and gene therapy | Q36646889 | ||
| Respiratory neuroplasticity and cervical spinal cord injury: translational perspectives | Q36961307 | ||
| Therapeutic approaches in glycogen storage disease type II/Pompe Disease. | Q37329535 | ||
| Temporal neuropathologic and behavioral phenotype of 6neo/6neo Pompe disease mice | Q37345062 | ||
| Phrenic afferents and ventilatory control | Q37818825 | ||
| Enzyme replacement therapy in late-onset Pompe's disease: a three-year follow-up | Q39218884 | ||
| Eight years experience with enzyme replacement therapy in two children and one adult with Pompe disease | Q40087057 | ||
| Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk | Q40534571 | ||
| Intractable fever and cortical neuronal glycogen storage in glycogenosis type 2. | Q40596816 | ||
| Tissue fractionation studies. 16. Intracellular distribution and properties of alpha-glucosidases in rat liver | Q41870377 | ||
| Serotonin 1A receptor agonists reverse respiratory abnormalities in spinal cord-injured rats. | Q44451981 | ||
| Nervous system in Pompe's disease. Ultrastructure and biochemistry | Q44576666 | ||
| Enzyme replacement therapy in the mouse model of Pompe disease | Q44624370 | ||
| Energy transfer from astrocytes to axons: the role of CNS glycogen | Q44928817 | ||
| Physiological correction of Pompe disease by systemic delivery of adeno-associated virus serotype 1 vectors | Q45408008 | ||
| Correction of the enzymatic and functional deficits in a model of Pompe disease using adeno-associated virus vectors | Q45732679 | ||
| Mechanism suppressing glycogen synthesis in neurons and its demise in progressive myoclonus epilepsy. | Q46938722 | ||
| FUNCTIONAL SIGNIFICANCE OF CELL SIZE IN SPINAL MOTONEURONS | Q47417117 | ||
| Episodic hypoxia induces long-term facilitation of neural drive to tongue protrudor and retractor muscles | Q47868515 | ||
| Brain development in infantile-onset Pompe disease treated by enzyme replacement therapy. | Q48466555 | ||
| Pompe's disease: an inborn lysosomal disorder with storage of glycogen. A study of brain and striated muscle | Q48681355 | ||
| A correlated histochemical and quantitative study on cerebral glycogen after brain injury in the rat | Q49125271 | ||
| Responses of inspiratory neurons of the dorsal respiratory group to stimulation of expiratory muscle and vagal afferents | Q49130973 | ||
| POMPE'S DISEASE (DIFFUSE GLYCOGENOSIS) WITH NEURONAL STORAGE | Q51260553 | ||
| Infantile-onset glycogen storage disease type II (Pompe disease): report of a case with genetic diagnosis and pathological findings. | Q51937484 | ||
| Mutant mice and neuroscience: recommendations concerning genetic background. Banbury Conference on genetic background in mice | Q60183121 | ||
| Relationship between respiratory nerve and muscle activity and muscle force output | Q67340209 | ||
| Pompe's disease | Q70982390 | ||
| Determination of glycogen in small tissue samples | Q71415797 | ||
| Differential control of ventilation among inbred strains of mice | Q72850744 | ||
| Reflex control of diaphragm activation by thoracic afferents | Q72932172 | ||
| Whole-body plethysmography, does it measure tidal volume of small animals? | Q74664960 | ||
| [Three hypotonic neonates with hypertrophic cardiomyopathy: Pompe's disease] | Q77344859 | ||
| Basic fibroblast growth factor increases long-term survival of spinal motor neurons and improves respiratory function after experimental spinal cord injury | Q78094928 | ||
| P433 | issue | 23 | |
| P407 | language of work or name | English | Q1860 |
| P304 | page(s) | 9419-9424 | |
| P577 | publication date | 2009-05-27 | |
| P1433 | published in | Proceedings of the National Academy of Sciences of the United States of America | Q1146531 |
| P1476 | title | Neural deficits contribute to respiratory insufficiency in Pompe disease | |
| P478 | volume | 106 |
| Q38272605 | "Double-trouble" for respiratory control in pompe disease |
| Q42634296 | 36 months observational clinical study of 38 adult Pompe disease patients under alglucosidase alfa enzyme replacement therapy |
| Q39881262 | A 62-year-old man with dyspnea. |
| Q40046102 | A Neuron-Specific Gene Therapy Relieves Motor Deficits in Pompe Disease Mice. |
| Q35600430 | A chaperone enhances blood α-glucosidase activity in Pompe disease patients treated with enzyme replacement therapy. |
| Q39737661 | A scalable method for the production of high-titer and high-quality adeno-associated type 9 vectors using the HSV platform |
| Q37272261 | Adeno-associated virus-mediated gene therapy for metabolic myopathy |
| Q91655909 | Advancements in AAV-mediated Gene Therapy for Pompe Disease |
| Q45866032 | Airway smooth muscle dysfunction in Pompe (Gaa-/- ) mice |
| Q36908177 | Altered activation of the diaphragm in late-onset Pompe disease |
| Q35143360 | Altered activation of the tibialis anterior in individuals with Pompe disease: Implications for motor unit dysfunction |
| Q92487825 | An emerging phenotype of central nervous system involvement in Pompe disease: from bench to bedside and beyond |
| Q38089518 | Animal models for metabolic, neuromuscular and ophthalmological rare diseases. |
| Q38015977 | Autopsy findings in late-onset Pompe disease: a case report and systematic review of the literature |
| Q34763584 | B-Cell Depletion is Protective Against Anti-AAV Capsid Immune Response: A Human Subject Case Study |
| Q37694653 | B-Cell depletion and immunomodulation before initiation of enzyme replacement therapy blocks the immune response to acid alpha-glucosidase in infantile-onset Pompe disease. |
| Q35651103 | Comparative impact of AAV and enzyme replacement therapy on respiratory and cardiac function in adult Pompe mice |
| Q47602838 | Compensatory plasticity in diaphragm and intercostal muscle utilization in a rat model of ALS. |
| Q92787885 | Comprehensive approach to weaning in difficult-to-wean infantile and juvenile-onset glycogen-storage disease type II patients: a case series |
| Q36543422 | Copackaged AAV9 Vectors Promote Simultaneous Immune Tolerance and Phenotypic Correction of Pompe Disease |
| Q35903220 | Correcting Neuromuscular Deficits With Gene Therapy in Pompe Disease |
| Q36875150 | Diaphragm Pacing as a Rehabilitative Tool for Patients With Pompe Disease Who Are Ventilator-Dependent: Case Series |
| Q36945130 | Diaphragm and ventilatory dysfunction during cancer cachexia |
| Q91933156 | Dynamic respiratory muscle function in late-onset Pompe disease |
| Q50847881 | Enzyme replacement therapy improves respiratory outcomes in patients with late-onset type II glycogenosis and high ventilator dependency. |
| Q36164927 | Evaluation of Readministration of a Recombinant Adeno-Associated Virus Vector Expressing Acid Alpha-Glucosidase in Pompe Disease: Preclinical to Clinical Planning |
| Q33731154 | Gel-mediated delivery of AAV1 vectors corrects ventilatory function in Pompe mice with established disease |
| Q36147475 | Gene therapy approaches for lysosomal storage disease: next-generation treatment |
| Q35084926 | Hypoglossal neuropathology and respiratory activity in pompe mice |
| Q64122273 | Improved efficacy of a next-generation ERT in murine Pompe disease |
| Q35999976 | In Vivo Selection Yields AAV-B1 Capsid for Central Nervous System and Muscle Gene Therapy |
| Q84275992 | Increased inspiratory and expiratory muscle strength following respiratory muscle strength training (RMST) in two patients with late-onset Pompe disease |
| Q42051051 | Inspiratory muscle conditioning exercise and diaphragm gene therapy in Pompe disease: Clinical evidence of respiratory plasticity |
| Q51550821 | Intracranial arterial abnormalities in patients with late onset Pompe disease (LOPD). |
| Q37181416 | Intrapleural administration of AAV9 improves neural and cardiorespiratory function in Pompe disease |
| Q64244491 | Intravenous Injection of an AAV-PHP.B Vector Encoding Human Acid α-Glucosidase Rescues Both Muscle and CNS Defects in Murine Pompe Disease |
| Q34105200 | Lactate produced by glycogenolysis in astrocytes regulates memory processing |
| Q53099318 | Late-onset Pompe disease (LOPD): correlations between respiratory muscles CT and MRI features and pulmonary function. |
| Q98292028 | Lentiviral Hematopoietic Stem Cell Gene Therapy Rescues Clinical Phenotypes in a Murine Model of Pompe Disease |
| Q47102959 | Lipid Involvement in Neurodegenerative Diseases of the Motor System: Insights from Lysosomal Storage Diseases |
| Q41625013 | Long-term neurologic and cardiac correction by intrathecal gene therapy in Pompe disease. |
| Q64042342 | Long-term observational, non-randomized study of enzyme replacement therapy in late-onset glycogenosis type II |
| Q64276274 | Macroglossia, Motor Neuron Pathology, and Airway Malacia Contribute to Respiratory Insufficiency in Pompe Disease: A Commentary on Molecular Pathways and Respiratory Involvement in Lysosomal Storage Diseases |
| Q92487796 | Multisystem late onset Pompe disease (LOPD): an update on clinical aspects |
| Q37008702 | Necrotizing myositis causes restrictive hypoventilation in a mouse model for human enterovirus 71 infection |
| Q39963807 | Neuropathology in respiratory-related motoneurons in young Pompe (Gaa(-/-)) mice |
| Q26851649 | New insights into therapeutic options for Pompe disease |
| Q38176598 | Non-muscle involvement in late-onset glycogenosis II. |
| Q36083396 | Oral delivery of Acid Alpha Glucosidase epitopes expressed in plant chloroplasts suppresses antibody formation in treatment of Pompe mice |
| Q34559489 | Pax6 interactions with chromatin and identification of its novel direct target genes in lens and forebrain |
| Q34920690 | Peripheral nerve and neuromuscular junction pathology in Pompe disease |
| Q36945774 | 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 |
| Q34982843 | Pompe disease gene therapy. |
| Q92487832 | Pompe disease gene therapy: neural manifestations require consideration of CNS directed therapy |
| Q36207744 | Pompe disease: Shared and unshared features of lysosomal storage disorders |
| Q84575770 | Pompe disease: dramatic improvement in gastrointestinal function following enzyme replacement therapy. A report of three later-onset patients |
| Q36729720 | Power spectral analysis of hypoglossal nerve activity during intermittent hypoxia-induced long-term facilitation in mice. |
| Q28067387 | Practical Recommendations for Diagnosis and Management of Respiratory Muscle Weakness in Late-Onset Pompe Disease |
| Q37730125 | Preclinical toxicology and biodistribution studies of recombinant adeno-associated virus 1 human acid α-glucosidase |
| Q41897772 | Quantitative analysis of upright standing in adults with late-onset Pompe disease. |
| Q96292693 | Rescue of Advanced Pompe Disease in Mice with Hepatic Expression of Secretable Acid α-Glucosidase |
| Q47301525 | Rescue of Pompe disease in mice by AAV-mediated liver delivery of secretable acid α-glucosidase. |
| Q47927846 | Respiratory manifestations in late-onset Pompe disease: a case series conducted in Brazil. |
| Q43230362 | Restoration of muscle functionality by genetic suppression of glycogen synthesis in a murine model of Pompe disease. |
| Q33586940 | Retrograde gene delivery to hypoglossal motoneurons using adeno-associated virus serotype 9. |
| Q45324511 | Safety of Intradiaphragmatic Delivery of Adeno-Associated Virus-Mediated Alpha-Glucosidase (rAAV1-CMV-hGAA) Gene Therapy in children affected by Pompe Disease |
| Q35296758 | Small-fiber neuropathy in pompe disease: first reported cases and prospective screening of a clinic cohort. |
| Q35665212 | Spinal delivery of AAV vector restores enzyme activity and increases ventilation in Pompe mice |
| Q36049311 | Stimulation of Respiratory Motor Output and Ventilation in a Murine Model of Pompe Disease by Ampakines |
| Q34519309 | Suppression of mTORC1 activation in acid-α-glucosidase-deficient cells and mice is ameliorated by leucine supplementation |
| Q37696025 | Sustained correction of motoneuron histopathology following intramuscular delivery of AAV in pompe mice. |
| Q59358757 | Systemic Delivery of AAVB1-GAA Clears Glycogen and Prolongs Survival in a Mouse Model of Pompe Disease |
| Q26767363 | Targeted approaches to induce immune tolerance for Pompe disease therapy |
| Q90663985 | The Respiratory Phenotype of Pompe Disease Mouse Models |
| Q46086672 | The humanistic burden of Pompe disease: are there still unmet needs? A systematic review |
| Q64257403 | The impact of Pompe disease on smooth muscle: a review |
| Q43253618 | The pharmacological chaperone 1-deoxynojirimycin increases the activity and lysosomal trafficking of multiple mutant forms of acid alpha-glucosidase |
| Q34345151 | The pharmacological chaperone AT2220 increases recombinant human acid α-glucosidase uptake and glycogen reduction in a mouse model of Pompe disease |
| Q28540925 | The pharmacological chaperone AT2220 increases the specific activity and lysosomal delivery of mutant acid alpha-glucosidase, and promotes glycogen reduction in a transgenic mouse model of Pompe disease |
| Q42030823 | The phrenic motor nucleus in the adult mouse. |
| Q38116744 | The respiratory neuromuscular system in Pompe disease |
| Q39663434 | The role of immune tolerance induction in restoration of the efficacy of ERT in Pompe disease |
| Q88876397 | Therapeutic Benefit of Autophagy Modulation in Pompe Disease |
| Q95453160 | To the Editor |
| Q39663459 | Toward deconstructing the phenotype of late-onset Pompe disease. |
| Q39404266 | Transcriptome assessment of the Pompe (Gaa-/-) mouse spinal cord indicates widespread neuropathology. |
| Q40471736 | Transfer of Therapeutic Genes into Fetal Rhesus Monkeys Using Recombinant Adeno-Associated Type I Viral Vectors. |
| Q102210923 | Ultrastructural and diffusion tensor imaging studies reveal axon abnormalities in Pompe disease mice |
| Q64100995 | Young and middle-aged mouse breathing behavior during the light and dark cycles |
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