Kiyokuni Miura
Aichi Developmental Disability Center(JP)
Publications by Year
Research Areas
Epilepsy research and treatment, Metabolism and Genetic Disorders, Neonatal and fetal brain pathology, Genetics and Neurodevelopmental Disorders, Pharmacological Effects and Toxicity Studies
Most-Cited Works
- → A wide spectrum of clinical and brain MRI findings in patients with SLC19A3mutations(2010)114 cited
- → Nonsense and Frameshift Mutations in ZFHX1B, Encoding Smad-Interacting Protein 1, Cause a Complex Developmental Disorder with a Great Variety of Clinical Features(2001)100 cited
- → Establishing SON in 21q22.11 as a cause a new syndromic form of intellectual disability: Possible contribution to Braddock–Carey syndrome phenotype(2016)77 cited
- → Microarray analysis of 50 patients reveals the critical chromosomal regions responsible for 1p36 deletion syndrome-related complications(2014)64 cited
- → The spectrum of ZEB2 mutations causing the Mowat–Wilson syndrome in Japanese populations(2014)45 cited
- → Seizure characteristics of epilepsy in childhood after acute encephalopathy with biphasic seizures and late reduced diffusion(2015)43 cited
- → Evolution of seizures and electroencephalographical findings in 23 cases of deletion type Angelman syndrome(2005)39 cited
- → Moyamoya disease presenting with chorea(1990)39 cited
- → Frameshift mutations of the ARX gene in familial Ohtahara syndrome(2010)39 cited
- → Clinical and biochemical characterization of 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency that causes Leigh-like disease and ketoacidosis(2014)34 cited