Takanori Yamagata
Jichi Medical University(JP)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Mitochondrial Function and Pathology, Autism Spectrum Disorder Research, Metabolism and Genetic Disorders, Genomic variations and chromosomal abnormalities
Most-Cited Works
- → Genomic rearrangement in NEMO impairs NF-κB activation and is a cause of incontinentia pigmenti(2000)736 cited
- → Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome(2012)519 cited
- → Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10(2000)511 cited
- → Epidemiology of acute encephalopathy in Japan, with emphasis on the association of viruses and syndromes(2011)404 cited
- → Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation(2013)223 cited
- → Guidelines for the diagnosis and treatment of acute encephalopathy in childhood(2020)156 cited
- → Dominant-Negative Mutations in α-II Spectrin Cause West Syndrome with Severe Cerebral Hypomyelination, Spastic Quadriplegia, and Developmental Delay