MK McCulloch, F Mehryab, A Rashnonejad - International journal of …, 2024 - mdpi.com
Charcot–Marie–Tooth type 1B (CMT1B) is a peripheral neuropathy caused by mutations in the gene encoding myelin protein zero (MPZ), a key component of the myelin sheath in …
Genetic mutations that disrupt open reading frames and cause translation termination are frequent causes of human disease and are difficult to treat due to protein truncation and …
Duchenne Muscular Dystrophy (DMD)'s complex multi-system pathophysiology, coupled with the cost-prohibitive logistics of multi-year drug screening and follow-up, has hampered …
CLN3 Batten disease is an autosomal recessive neurodegenerative disease caused by mutations in the CLN3 gene. Children with disease-causing mutations in CLN3 develop …
Duchenne Muscular Dystrophy (DMD) is an X-linked, progressive degenerative muscle disease caused by a variety of mutations that disrupt the open reading frame (ORF) of DMD …
Abstract Charcot-Marie-Tooth disease (CMT) is a group of hereditary peripheral neuropathies that can result from defects in a wide spectrum of genes. Some of these …
[引用][C]Application for Danish Diabetes and Endocrine Academy PhD Scholarship 2024 Project title: Targeting mitochondrial metabolism in mental disorders