Results 201 to 210 of about 1,412,344 (374)
Epilepsia Open, EarlyView.Abstract Objective To investigate the efficacy and tolerability of perampanel (PER) on Dravet syndrome in China by a prospective real‐world study. Methods We prospectively enrolled children with Dravet syndrome from the neurology clinic of Shenzhen Children's Hospital from September 2020 to October 2021.
Han Wang +9 more
wiley +1 more source
Nonsense Mutations Inhibit RNA Splicing in a Cell-Free System: Recognition of Mutant Codon Is Independent of Protein Synthesis [PDF]
, 1996 Saïd Aoufouchi +2 more
openalex +1 more source
Mutations in GFAP Alter Early Lineage Commitment of Organoids
Glia, EarlyView.Mutations in GFAP alter lineage commitment of organoids. The severity of this commitment defect is dependent on the method of embryoid body formation. GFAP is expressed in iPSCs and during early stages of organoid development. Graphical abstract was created with BioRender.com .
Werner Dykstra +14 more
wiley +1 more source
Congenital Myasthenic Syndromes due to Heteroallelic Nonsense/Missense Mutations in the Acetylcholine Receptor Subunit Gene: Identification and Functional Characterization of Six New Mutations [PDF]
, 1997 Kinji Ohno +11 more
openalex +1 more source
Influenza virus-susceptible mice carry Mx genes with a large deletion or a nonsense mutation.
, 1988 P Staeheli +4 more
openalex +1 more source
International Journal of Cancer, EarlyView.What's New? Lynch syndrome is a prevalent cause of hereditary gynecological cancers, but the timeline of molecular alterations preceding malignancy remains unclear. By studying consecutive surveillance specimens for up to 15 years before cancer diagnosis, the authors found that atypical endometrial hyperplasia was indistinguishable from endometrial and
Anni K. Kauppinen +3 more
wiley +1 more source
Identification of a nonsense mutation at the 5' end of the TSC2 gene in a family with a presumptive diagnosis of tuberous sclerosis complex. [PDF]
, 1996 Radek Vrtěl +14 more
openalex +1 more source
A Nonsense Mutation in Mycobacterium marinum That Is Suppressible by a Novel Mechanism
Infection and Immunity, 2016 E. A. Williams +8 more
semanticscholar +1 more source