Diversity challenges and reconciles genetics in facioscapulohumeral muscular dystrophy
Wang LH, Tawil R. Facioscapulohumeral dystrophy. Curr Neurol Neurosci Rep. 2016;16:66. Article PubMed Google Scholar Mul K, Lassche…
Feasibility and clinical utility of expanded genomic newborn screening in the Early Check program
Enrollment rates Between 28 September 2023 and 10 June 2024 (~8.5 months), a total of 2,125 newborns were enrolled.…
Molecular genetics and therapeutic development for GNE myopathy
Yoshioka W, Noguchi S, Mori-Yoshimura M, Nishino I. Advances in understanding of the natural history, mechanism, extra-muscular manifestations…
Closing the gap in HCV care: strategic collaboration between industry, academic, community, and nonprofit researchers
Simplified care cascades with easier treatment access are needed to ensure optimal treatment uptake with minimal patient loss…
A novel MCMDC2 variant causes meiotic arrest and non-obstructive azoospermia in a consanguineous Chinese family
Cerván-MartÃn M, Castilla JA, Palomino-Morales RJ, Carmona FD. Genetic landscape of nonobstructive azoospermia and new perspectives for the…
MYH2-associated myopathy caused by novel compound heterozygous mutations: a case report and literature review
Morales PN, Coons AN, Koopman AJ, Patel S, Chase PB, Parvatiyar MS, et al. Post-translational modifications of vertebrate…
A Japanese familial spastic paraplegia associated with a missense UBQLN2 variant
Statland JM, Barohn RJ, McVey AL, Katz JS, Dimachkie MM. Patterns of weakness, classification of motor neuron disease,…
From gene hunter to drug hunter
Howard Chang wasn’t looking for a change from his job at Stanford, where he worked as both a…
Strengthening Africa’s brain health and economic resilience
United Nations Department of Economic and Social Affairs, Population Division. World Population Prospects 2024: Online Edition (United Nations,…
Genetic insights into the origin, admixture, and migration of the early Austronesian peoples
Shutler R, Marck JC. On the dispersal of the Austronesian horticulturalists. Archaeology Phys Anthropol Ocean. 1975;10:81–113. Google Scholar …
When ganglioside pathways go awry: congenital disorders and experimental insights
Thudichum JLW. A treatise on the chemical constitution of the brain: Bailliere, Tindall, and Cox, London; 1884. Chiricozzi…
NGLY1 deficiency – clinical features and therapeutic strategy
Suzuki T. Catabolism of N-glycoproteins in mammalian cells: molecular mechanisms and genetic disorders related to the processes. Mol…