Masano Amamoto
Kitakyushu City Hospital Organization(JP)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Neuroscience and Neuropharmacology Research, Metabolism and Genetic Disorders, RNA regulation and disease
Most-Cited Works
- → Clinical study of childhood acute disseminated encephalomyelitis, multiple sclerosis, and acute transverse myelitis in Fukuoka Prefecture, Japan(2009)109 cited
- → Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy(2013)81 cited
- → Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy(2016)70 cited
- → Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy(2019)68 cited
- → Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing(2019)42 cited
- → Post-natal treatment by a blood-brain-barrier permeable calpain inhibitor, SNJ1945 rescued defective function in lissencephaly(2013)20 cited
- → Clinical and genetic characteristics of patients with Doose syndrome(2020)18 cited
- → Elevated Biopterin and Homovanillic Acid Levels in Cerebrospinal Fluid From Children With Aseptic Meningitis(1994)8 cited
- → Crohn’s disease and chronic recurrent multifocal osteomyelitis in a Japanese boy(2020)7 cited
- → Nasopharyngeal airway for upper airway obstruction in infectious mononucleosis(2020)4 cited