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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.
AAV9 gene replacement therapy for respiratory insufficiency in very-long chain acyl-CoA dehydrogenase deficiency.
Intralingual Administration of AAVrh10-miRSOD1 Improves Respiratory But Not Swallowing Function in a Superoxide Dismutase-1 Mouse Model of Amyotrophic Lateral Sclerosis.
Motor axonopathies in a mouse model of Duchenne muscular dystrophy.
Respiratory pathology in the Optn-/- mouse model of Amyotrophic Lateral Sclerosis.
Neuro-respiratory pathology in spinocerebellar ataxia.
ATS Core Curriculum 2022. Pediatric Pulmonary Medicine: Updates in pediatric neuromuscular disease.
GAA deficiency disrupts distal airway cells in Pompe disease.