Hitoshi Osaka
Jichi Medical University(JP)Jichi Medical University Hospital(JP)
Publications by Year
Research Areas
RNA regulation and disease, Metabolism and Genetic Disorders, Mitochondrial Function and Pathology, Genetics and Neurodevelopmental Disorders, RNA Research and Splicing
Most-Cited Works
- → De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy(2008)541 cited
- → Ubiquitin carboxy-terminal hydrolase L1 binds to and stabilizes monoubiquitin in neuron(2003)358 cited
- → De Novo Mutations in GNAO1, Encoding a Gαo Subunit of Heterotrimeric G Proteins, Cause Epileptic Encephalopathy(2013)231 cited
- → Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy(2013)221 cited
- → De novo mutations of voltage-gated sodium channel α II gene SCN2A in intractable epilepsies(2009)200 cited
- → Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome(2013)196 cited