Results 131 to 140 of about 68,781 (284)

Muscular dystrophy in an X; 1 translocation female suggests that Duchenne locus is on X chromosome short arm. [PDF]

, 1979
R H Lindenbaum, Geoffrey D Clarke, Chirag Patel, Marc Moncrieff, John T. Hughes   +4 more
openalex   +1 more source

Genomic Screening Consortium for Australian Newborns (GenSCAN)

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Background Using genomic sequencing technology at population scale as a screening test holds the promise of improving outcomes for individuals with rare diseases through early detection and timely access to precision medicine. However, the incorporation of genomics into established newborn screening programmes raises many challenges, ranging ...
Natalie Taylor, Michelle Pirreca, Bruce Bennetts, Gladys Ho, Kirsten Boggs, Karin S. Kassahn, Lucy Anastasi, David Eugeny Godler, Mohammed Alshawsh, Sarah Norris, Joanne Scarfe, Tiffany Boughtwood, Gareth Baynam, Belinda Burns, Enzo Ranieri, Jade Caruana, Sebastian Lunke, Stephanie Best, Zornitza Stark   +18 more
wiley   +1 more source

A possible role for electron microscopy in detection of carriers of Duchenne type muscular dystrophy [PDF]

, 1973
Adel K. Afifi, Ronald A. Bergman, H Zellweger   +2 more
openalex   +1 more source

Alternative Splicing Regulation in Metabolic Disorders

Obesity Reviews, EarlyView.
ABSTRACT Alternative splicing (AS) is a fundamental mechanism for enhancing transcriptome diversity and regulating gene expression, crucial for various cellular processes and the development of complex traits. This review examines the role of AS in metabolic disorders, including obesity, weight loss, dyslipidemias, and metabolic syndrome.
Dorota Kaminska
wiley   +1 more source

Interpretation of "Diagnosis and management of Duchenne muscular dystrophy: a guide for families (2011 version)"

Chinese Journal of Contemporary Neurology and Neurosurgery, 2015
The guideline "Diagnosis and management of Duchenne muscular dystrophy" was supported by a 3-year-long project guided by US Centers for Disease Control and Prevention (CDC), in collaboration with patient advocacy groups [Muscular Dystrophy Association ...
Xi-hua LI
doaj  

Efficacy and safety of Viltepso® in Duchenne muscular dystrophy: review of clinical studies

Русский журнал детской неврологии
The author presents a literature review on the safety and efficacy of antisense oligonucleotides in the treatment of Duchenne muscular dystrophy using the exon skipping method using Viltepso® (viltolarsen), the only drug of this class registered in ...
V. M. Suslov, D. I. Rudenko
doaj   +1 more source

A nitric oxide synthase transgene ameliorates muscular dystrophy in mdx mice. [PDF]

, 2001
Dystrophin-deficient muscles experience large reductions in expression of nitric oxide synthase (NOS), which suggests that NO deficiency may influence the dystrophic pathology.
Spencer, MJ, Tidball, JG, Wehling, M
core  

Further motor unit studies in Duchenne muscular dystrophy. [PDF]

, 1977
Alan J. McComas, R. E. P. Sica, Murray E. Brandstater   +2 more
openalex   +1 more source

Exploring the respiratory efficacy of combined chronic glucocorticoid and antioxidant interventions in the mdx mouse: The PREDNAC trial

Experimental Physiology, EarlyView.
Abstract Duchenne muscular dystrophy (DMD) is characterized by respiratory muscle injury and weakness, ultimately leading to respiratory failure. Impaired respiratory muscle performance, fibrosis and inflammation in early disease are evident in the dystrophin‐deficient mdx mouse model of DMD.
Michael N. Maxwell, Ben T. Murphy, Fiona B. McDonald, Ken D. O'Halloran   +3 more
wiley   +1 more source

Aggravation of Cardiovascular and Respiratory Decline in Advanced Duchenne Muscular Dystrophy Complicated by Dilated Cardiomyopathy – Case Study and Review of Literature

Journal of Education, Health and Sport
Introduction: Duchenne muscular dystrophy is a genetic X-linked recessive disorder. This condition is characterized by progressive loss of muscle tissue. Thus, it results in deterioration and inability to perform basic motor skills such as independent
Iwona Welian-Polus, Bartosz Mazur, Michał Bielak, Magdalena Mazur, Elżbieta Rypulak, Wiktoria Wilanowska, Anna Greguła, Karol Stachyrak, Dawid Mika, Kamila Turek   +9 more
doaj   +1 more source