NERVOUS SYSTEM IN POMPEʼS DISEASE

1971/07/01 by P. GAMBETTI, Pierluigi Gambetti, S. DIMAURO +3 · 27 citations
Medicine · Biochemistry, Genetics and Molecular Biology · #Lysosomal Storage Disorders Research #Glycogen Storage Diseases and Myoclonus #Cellular transport and secretion

paper · doi:10.1097/00005072-197107000-00008

Abstract

Post-doctoral Fellow of MDAA

Cited by

• Temporal Neuropathologic and Behavioral Phenotype of 6neo/6neoPompe Disease Mice
• Quantitative Muscle MRI of the Lower Extremities Reveals Different Patterns of Involvement in Classic Infantile and Young Late‐Onset Pompe Patients
• Temporal neuropathologic and behavioral phenotype of 6neo/6neo Pompe disease mice. [europepmc]
• Hypoglossal neuropathology and respiratory activity in pompe mice. [europepmc]
• Facial-muscle weakness, speech disorders and dysphagia are common in patients with classic infantile Pompe disease treated with enzyme therapy. [europepmc]
• 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. [europepmc]
• The respiratory neuromuscular system in Pompe disease. [europepmc]
• Adeno-associated virus-mediated gene therapy for metabolic myopathy. [europepmc]
• Altered activation of the tibialis anterior in individuals with Pompe disease: Implications for motor unit dysfunction. [europepmc]
• Correcting Neuromuscular Deficits With Gene Therapy in Pompe Disease. [europepmc]
• Effects of a higher dose of alglucosidase alfa on ventilator-free survival and motor outcome in classic infantile Pompe disease: an open-label single-center study. [europepmc]
• Neuropathology in respiratory-related motoneurons in young Pompe (Gaa(-/-)) mice. [europepmc]
• Transcriptome assessment of the Pompe (Gaa-/-) mouse spinal cord indicates widespread neuropathology. [europepmc]
• Rapidly Progressive White Matter Involvement in Early Childhood: The Expanding Phenotype of Infantile Onset Pompe? [europepmc]
• Neuroimaging findings in infantile Pompe patients treated with enzyme replacement therapy. [europepmc]
• Intravenous Injection of an AAV-PHP.B Vector Encoding Human Acid α-Glucosidase Rescues Both Muscle and CNS Defects in Murine Pompe Disease. [europepmc]
• Advances in imaging of brain abnormalities in neuromuscular disease. [europepmc]
• An emerging phenotype of central nervous system involvement in Pompe disease: from bench to bedside and beyond. [europepmc]
• Pompe disease gene therapy: neural manifestations require consideration of CNS directed therapy. [europepmc]
• Advancements in AAV-mediated Gene Therapy for Pompe Disease. [europepmc]
• The Respiratory Phenotype of Pompe Disease Mouse Models. [europepmc]
• Lentiviral Hematopoietic Stem Cell Gene Therapy Corrects Murine Pompe Disease. [europepmc]
• Distal muscle weakness is a common and early feature in long-term enzyme-treated classic infantile Pompe patients. [europepmc]
• Multicentric Retrospective Evaluation of Five Classic Infantile Pompe Disease Subjects Under Enzyme Replacement Therapy With Early Infratentorial Involvement. [europepmc]
• Neuromuscular Development and Disease: Learning From in vitro and in vivo Models. [europepmc]
• IGF2-tagging of GAA promotes full correction of murine Pompe disease at a clinically relevant dosage of lentiviral gene therapy. [europepmc]
• Monitoring and Management of Respiratory Function in Pompe Disease: Current Perspectives. [europepmc]

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• Temporal Neuropathologic and Behavioral Phenotype of 6neo/6neoPompe Disease Mice
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• Defect in degradation of glycogenin‐exposed residual glycogen in lysosomes is the fundamental pathomechanism of Pompe disease