Molecular Analysis of a Congenital Myasthenic Syndrome Due to a Pathogenic Variant Affecting the C-Terminus of ColQ
Nucleolar reorganization after cellular stress is orchestrated by SMN shuttling between nuclear compartments
Generation of three induced pluripotent stem cell lines from patients with glycogen storage disease type III.
Unlocking the Complexity of Neuromuscular Diseases : Insights from Human Pluripotent Stem Cell-Derived Neuromuscular Junctions
Establishment of heterozygous and homozygous SHANK3 knockout clonal pluripotent stem cells from the parental hESC line SA001 using CRISPR/Cas9
Advances in the engineering of the outer blood-retina barrier: From in-vitro modelling to cellular therapy
Identification of signaling pathways modifying human dopaminergic neuron development using a pluripotent stem cell-based high-throughput screening automated system: purinergic pathways as a proof-of-principle
