ConferenceAmerican Journal of Respiratory and Critical Care Medicine · May 1, 2025
AbstractRATIONALE: Most patients who present to the emergency department (ED) for asthma exacerbations have poorly controlled asthma that temporarily improves but continues to be uncontrolled. Effective a ...
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ConferenceAmerican Journal of Respiratory and Critical Care Medicine · May 1, 2025
AbstractIntroduction: Duchenne muscular dystrophy (DMD) is an X-linked severe neuromuscular disorder, caused by a lack of dystrophin which results in progressive muscular degeneration. As the disease prog ...
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ConferencePhysiology · May 2025
Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder caused by dystrophin deficiency. Respiratory complications due to progressive muscle weakness are a major cause of morbidity and mortality in DMD. Exon skipping therapy, mediated ...
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ConferencePhysiology · May 2025
Pompe disease results in cardiorespiratory distress secondary to
glycogen accumulation in the lysosomes of all muscle types and motor
neurons. The only approved treatment is enzyme replacement therap ...
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ConferencePlos One · February 1, 2025
Duchenne muscular dystrophy (DMD) is an X-linked devastating disease caused by a lack of dystrophin which results in progressive muscle weakness. As muscle weakness progresses, respiratory insufficiency and hypoventilation result in significant morbidity a ...
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ConferencePhysiology · May 2023
Pompe disease results in cardiorespiratory distress secondary to glycogen accumulation in the lysosomes of all muscle types and motor neurons. The only approved treatment is enzyme replacement therapy (ERT), which improves survival, however, it ca ...
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ConferenceFASEB journal : official publication of the Federation of American Societies for Experimental Biology · May 1, 2022
SCA7 is an autosomal dominant neurological disorder caused by a deleterious CAG repeat expansion in the coding region of the ataxin-7 gene on chromosome 3. Patients with infantile SCA-7 have the largest repeat expansion characterized by progressive loss of ...
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ConferenceThe FASEB Journal · May 2021
Duchenne muscular dystrophy (DMD) is the most common X‐linked disease affecting 1 in 3500 male births. DMD is characterized by mutations in the
DMD
gene, which ...
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ConferenceThe FASEB Journal · May 2021
Spinocerebellar ataxia type 7 (SCA7) is an autosomal dominant neurodegenerative disorder caused by a deleterious CAG repeat expansion in the coding region of the
ataxin‐7
...
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ConferenceThe FASEB Journal · April 2020
Spinocerebellar ataxia type 7 (SCA‐7) is a neurodegenerative polyglutamine disease within the family of spinocerebellar ataxias. Classically SCA7 is a disease o ...
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ConferenceThe FASEB Journal · April 2020
Amyotrophic Lateral Sclerosis (ALS) is a devastating and fatal neurodegenerative disease with no current cure. Respiratory failure is the leading cause of death in ALS. Death occurs3–5 years after diagnosis when patients with ALS ultimately succumb ...
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