Misako Naiki
Kasugai Municipal Hospital(JP)
Publications by Year
Research Areas
Epilepsy research and treatment, Infectious Encephalopathies and Encephalitis, Mitochondrial Function and Pathology, Bacterial Infections and Vaccines, Metabolism and Genetic Disorders
Most-Cited Works
- → Acute encephalopathy in children with Dravet syndrome(2011)68 cited
- → MBTPS2 mutation causes BRESEK/BRESHECK syndrome(2011)45 cited
- → Mutations in HADHB, which encodes the β‐subunit of mitochondrial trifunctional protein, cause infantile onset hypoparathyroidism and peripheral polyneuropathy(2014)41 cited
- → Clinical and biochemical characterization of 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency that causes Leigh-like disease and ketoacidosis(2014)34 cited
- → Hippocampal diffusion abnormality after febrile status epilepticus is related to subsequent epilepsy(2019)31 cited
- → Transient splenial lesions in children with “benign convulsions with gastroenteritis”(2007)29 cited
- → Clinical characterization and identification of duplication breakpoints in a Japanese family with Xq28 duplication syndrome including MECP2(2014)13 cited
- → Molecular Analysis of X-Linked Inborn Errors of Purine Metabolism:HPRT1andPRPS1Mutations(2011)4 cited
- → Effect of corticosteroids in a twin child with idiopathic localization-related epilepsy(2007)1 cited
- Mutations in HADHB, which Encodes the β-Subunit of Mitochondrial Trifunctional Protein, Cause Infantile Onset Hypoparathyroidism and Peripheral Polyneuropathy : ミトコンドリア三頭酵素をコードするHADHB遺伝子の変異は乳児期発症の副甲状腺機能低下症と末梢神経障害を引き起こす(2015)