Identification of 13 novel mutations including a retrotransposal insertion in SLC25A13 gene and frequency of 30 mutations found in patients with citrin deficiency

Ayako Tabata, Jian-sheng Sheng, Miharu Ushikai, +9

Journal of Human Genetics

Genetic DisorderGeneticsPathologySlc25a13 GeneMolecular Genetics +7

Citrin deficiency and current treatment concepts

Takeyori Saheki, Kanako Inoue, Anmi Tushima, +2

Molecular Genetics and Metabolism

Primary ImmunodeficiencyAutoimmune DiseasePharmacotherapyCitrin DeficiencyMedicine +1

Multi-institutional study on the correlation between chromosomal abnormalities and epilepsy

Tomohiro Kumada, Masatoshi Ito, Tomoko Miyajima, +19

Brain and Development

NeuropsychologyPsychiatryGenetic DisorderGenetic EpidemiologyNeuropsychiatry +7

Complex I (reduced nicotinamide-adenine dinucleotide-coenzyme Q reductase) deficiency in two patients with probable Leigh syndrome

Tatsuya Fujii, Masatoshi Ito, Takehiko Okuno, +3

The Journal of Pediatrics

Probable Leigh SyndromeMendelian DisorderGenetic DisorderGeneticsInherited Metabolic Disease +4

ACTH therapy in infantile spasms: Relationship between dose of ACTH and initial effect or long-term prognosis

Masatoshi Ito, Takehiko Okuno, Tatsuya Fujii, +5

Pediatric Neurology

PediatricsInfantile SpasmsRehabilitationActh TherapyInitial Effect

Ipsilateral Atrophy in Children with Hemispheric Cerebral Tumors

Kozo Mutoh, Takehiko Okuno, Masatoshi Ito, +6

Journal of Computer Assisted Tomography

MELAS of infantile onset: mitochondrial angiopathy or cytopathy?

Tatsuya Fujii, Takehiko Okuno, Masatoshi Ito, +4

Journal of the Neurological Sciences

VasculitisHistopathologyPediatricsPathologyVascular Malformation +3

Evaluation of new commercial immunochromatography kit for norovirus in feces

Kozo Mutoh, Akihiro Hakamata, Hideya Yagi, +3

Pediatrics International

Diagnostic VirologyPathogen DetectionViral DiagnosticsVirologyMicrobiology +3

MR Imaging of a Group I Case of Hallervorden-Spatz Disease

Kozo Mutoh, Takehiko Okuno, Masatoshi Ito, +4

Journal of Computer Assisted Tomography

Neurological DisorderDiagnosisPathologyMagnetic ResonanceIron Deposition +14

Involvement of the noradrenergic system in the seizures of epileptic El mice

Hideo Tsuda, Masatoshi Ito, Katsuhiko Oguro, +4

European Journal of Pharmacology

NeurophysiologyNeuroanatomySynaptic TransmissionPhysiologyMedicine +10