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…
Peace in Colombia requires healing the scars of conflict on the mind and brain
A.I. is supported by grants from the multi-partner consortium to expand dementia research in Latin America (ReDLat, supported…
Genetic findings of children with congenital heart diseases using chromosomal microarray and trio-based whole exome sequencing
We utilized chromosomal microarray analysis (CMA) and whole exome sequencing (WES) to investigate the prevalence of clinically relevant…
Molecular genetics of J-domain protein-related chaperonopathies in skeletal muscle
Kampinga HH, Andreasson C, Barducci A, Cheetham ME, Cyr D, Emanuelsson C, et al. Function, evolution, and structure…
Reshaping transplantation with AI, emerging technologies and xenotransplantation
Bozkurt, B. et al. Heart failure epidemiology and outcomes statistics: a report of the Heart Failure Society of…