Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1002/jca.21834 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Co-occurrence of homozygous mutation and CCTG expansion in the gene in a patient with muscular dystrophy.
Postep Psychiatr Neurol
June 2024
Faculty of Medicine, Lazarski University, Warsaw, Poland Abstract.
Purpose: Muscular dystrophy is a group of heterogeneous diseases causing progressive muscle weakness and atrophy. Many types have been defined, including Duchenne/Becker, myotonic, limb-girdle, congenital, and facioscapulohumeral muscular dystrophies. This study aims to present the first patient with both a homozygous mutation and a CCTG expansion in the gene, which suggests the co-occurrence of two diseases in a single patient.
View Article and Find Full Text PDFAPOE α4 homozygosity - a genetic form of Alzheimer disease?
Nat Rev Neurol
July 2024
Nature Reviews Neurology, .
How can we improve the prognosis of patients with homozygous familial hypercholesterolemia?
Atherosclerosis
June 2024
Cardiovascular Center, Osaka Medical and Pharmaceutical University, 2-7 Daigakumachi, Takatsuki, Osaka, 569-8686, Japan. Electronic address:
Homozygous familial hypercholesterolemia: the impact of novel treatments.
Eur J Prev Cardiol
June 2024
Department of Pharmacology, Trinity College Dublin School of Medicine and Clinical Research Facility, St James Hospital, Dublin D8, Ireland.
LDL-C-Lowering Therapies for Adults and Children With Homozygous Familial Hypercholesterolemia: Challenges and Successes.
Circulation
January 2024
Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia (M.C.).
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!