Annals of Neurology, EarlyView.Pathogenic DMD variants usually follow the reading‐frame rule: out‐of‐frame changes cause Duchenne muscular dystrophy, whereas in‐frame ones produce Becker muscular dystrophy (BMD). We report a 23‐year‐old man with BMD‐like weakness, calf hypertrophy, elevated creatine kinase, and dilated cardiomyopathy.
Hiroya Naruse +16 more
wiley +1 more source
Precision Medicine and Exercise Therapy in Duchenne Muscular Dystrophy
Sports, 2019 Precision medicine is being discussed and incorporated at all levels of health care and disease prevention, management, and treatment. Key components include new taxonomies of disease classification, the measurement and incorporation of genetics and ...
Matthew Kostek
doaj +1 more source
A Price on Volunteerism:The Public Has a Higher Duty to Accommodate Volunteers [PDF]
, 2007 This Comment first examines the issues presented in Bauer (including the holding that the Americans with Disabilities Act does not protect these volunteers from discrimination) and the court’s rationale for finding that volunteers are not protected under
Attard, Lauren
core +1 more source
High-throughput analysis of the RNA-induced silencing complex in myotonic dystrophy type 1 patients identifies the dysregulation of miR-29c and its target ASB2 [PDF]
, 2018 Myotonic dystrophy type 1 (DM1) is a multi-systemic disorder caused by abnormally expanded stretches of CTG DNA triplets in the DMPK gene, leading to mutated-transcript RNA-toxicity.
Cappella, Marisa +11 more
core +2 more sources
A Recurrent Pathogenic Variant of INPP5K Underlies Autosomal Recessive Congenital Muscular Dystrophy With Cataracts and Intellectual Disability: Evidence for a Founder Effect in Southern Italy [PDF]
, 2020 Adele D’Amico +13 more
openalex +1 more source
Understanding Neurodegenerative Diseases From the −Omics Perspective: Lessons Learnt
Annals of Neurology, EarlyView.As the population ages, certain neurodegenerative diseases (NDs) are becoming a major health issue. For this reason, this review will focus on the most common ND with onset after 65 years old; Alzheimer's disease, Parkinson's disease, Lewy body dementia, and frontotemporal dementia.
Laura Ibanez +5 more
wiley +1 more source
Exploring therapeutic strategies for infantile neuronal axonal dystrophy (INAD/PARK14)
, 2023 Guang Lin +12 more
openalex +1 more source
Biotechnology and Bioengineering, EarlyView.ABSTRACT Adeno‐associated viral (AAV) vectors for gene therapy are becoming integral to modern medicine, providing therapeutic options for diseases once deemed incurable. Currently, viral vector purification is a critical bottleneck in the gene therapy industry, impacting product efficacy and safety as well as accessibility and cost to patients ...
Kelvin P. Idanwekhai +9 more
wiley +1 more source
New and emerging technologies for the treatment of inherited retinal diseases: a horizon scanning review. [PDF]
, 2015 The horizon scanning review aimed to identify new and emerging technologies in development that have the potential to slow or stop disease progression and/or reverse sight loss in people with inherited retinal diseases (IRDs).
Michaelides, M +4 more
core
The brain in myotonic dystrophy 1 and 2: evidence for a predominant white matter disease [PDF]
, 2011 Martina Minnerop +11 more
openalex +1 more source