Microdystrophin expression as a surrogate endpoint for Duchenne muscular dystrophy clinical trials
JS Chamberlain, M Robb, S Braun, KJ Brown… - Human gene …, 2023 - liebertpub.com
Duchenne muscular dystrophy (DMD) is a serious, rare genetic disease, affecting primarily
boys. It is caused by mutations in the DMD gene and is characterized by progressive muscle …
boys. It is caused by mutations in the DMD gene and is characterized by progressive muscle …
Newborn screening for Duchenne muscular dystrophy‐early detection and diagnostic algorithm for female carriers of Duchenne muscular dystrophy
D Gruber, M Lloyd‐Puryear… - American Journal of …, 2022 - Wiley Online Library
Duchenne muscular dystrophy (DMD) is the most common pediatric‐onset form of muscular
dystrophy, occurring in 1 in 5,000 live male births. DMD is a multi‐system disease resulting …
dystrophy, occurring in 1 in 5,000 live male births. DMD is a multi‐system disease resulting …
Dwarf open reading frame (DWORF) gene therapy ameliorated duchenne muscular dystrophy cardiomyopathy in aged mdx mice
ED Morales, Y Yue, TB Watkins, J Han… - Journal of the …, 2023 - Am Heart Assoc
Background Cardiomyopathy is a leading health threat in Duchenne muscular dystrophy
(DMD). Cytosolic calcium upregulation is implicated in DMD cardiomyopathy. Calcium is …
(DMD). Cytosolic calcium upregulation is implicated in DMD cardiomyopathy. Calcium is …
Genetic counseling for the dystrophinopathies—Practice resource of the National Society of Genetic Counselors
AM Pickart, AS Martin, BN Gross… - Journal of Genetic …, 2024 - Wiley Online Library
The dystrophinopathies encompass the phenotypically variable forms of muscular dystrophy
caused by pathogenic variants in the DMD gene. The dystrophinopathies include the most …
caused by pathogenic variants in the DMD gene. The dystrophinopathies include the most …
Prevalence of Attention-Deficit/Hyperactivity Disorder and Autism Spectrum Disorder in Individuals With Dystrophinopathy at a Tertiary Care Center in Chicago
E Diehl, M O'Neill, L Gray, A Schwaede, N Kuntz… - Pediatric …, 2024 - Elsevier
Objective To study the prevalence of attention-deficit/hyperactivity disorder (ADHD) and
autism spectrum disorder (ASD) in individuals with dystrophinopathy compared with the …
autism spectrum disorder (ASD) in individuals with dystrophinopathy compared with the …
Long‐term outcomes for females with early‐onset dystrophinopathy
SLS Houwen‐van Opstal, RO Tak… - … Medicine & Child …, 2023 - Wiley Online Library
Aim To study long‐term disease course for females with early‐onset dystrophinopathy,
including common (female) symptoms, challenges in social participation, the need for care …
including common (female) symptoms, challenges in social participation, the need for care …