Tojo Nakayama
Tokyo Medical and Dental University(JP)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Epilepsy research and treatment, Mitochondrial Function and Pathology, Genomic variations and chromosomal abnormalities, Metabolism and Genetic Disorders
Most-Cited Works
- → A framework for individualized splice-switching oligonucleotide therapy(2023)138 cited
- → Nav1.2 haplodeficiency in excitatory neurons causes absence-like seizures in mice(2018)111 cited
- → A homozygous mutation of voltage‐gated sodium channel β I gene SCN1B in a patient with Dravet syndrome(2012)91 cited
- → Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior(2021)82 cited
- → Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination(2015)79 cited
- → Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features(2016)66 cited
- → Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy(2017)65 cited
- → Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome(2015)62 cited
- → Deletions of SCN1A 5′ genomic region with promoter activity in Dravet syndrome(2010)61 cited
- → Parental satisfaction and seizure outcome after corpus callosotomy in patients with infantile or early childhood onset epilepsy(2013)39 cited