Molecular Cloning and Expression of cDNA for Murine Galactocerebrosidase and Mutation Analysis of the Twitcher Mouse, a Model of Krabbe's Disease

Norio Sakai, Koji Inui, N Tatsumi, +8

Journal of Neurochemistry

Pulse methylprednisolone with gammaglobulin as an initial treatment for acute Kawasaki disease

Keiko Okada, Junichi Hara, Ichiro Maki, +7

European Journal of Pediatrics

Translational MedicineInitial TreatmentImmunologyPathologyAcute Kawasaki Disease +2

Mitochondrial encephalomyopathies with the mutation of the mitochondrial tRNALeu(UUR) gene

Koji Inui, Hisao Fukushima, Hiroko Tsukamoto, +5

The Journal of Pediatrics

BiologyMitochondrial FunctionGenetic DisorderNatural SciencesGenetics +7

Aromatase Excess Syndrome: Identification of Cryptic Duplications and Deletions Leading to Gain of Function of<i>CYP19A1</i>and Assessment of Phenotypic Determinants

Maki Fukami, Makio Shozu, Shun Soneda, +12

The Journal of Clinical Endocrinology & Metabolism

Molecular defects in Krabbe disease

N Tatsumi, Koji Inui, Norio Sakai, +8

Human Molecular Genetics

Base DeletionGeneticsPathologyMolecular GeneticsDisease Gene Identification +17

Distinct genetic clades of enterovirus D68 detected in 2010, 2013, and 2015 in Osaka City, Japan

Atsushi Kaida, Nobuhiro Iritani, Seiji P. Yamamoto, +10

PLoS ONE

Osaka CityViral EvolutionEnterovirus D68First UpsurgeDistinct Genetic Clades +11

Remission of progressive multifocal leukoencephalopathy following highly active antiretroviral therapy in a patient with HIV infection

Koji Inui, Hiromi Miyagawa, Junji Sashihara, +7

Brain and Development

Primary ImmunodeficiencyTreatment And PreventionHuman RetrovirusHiv InfectionActive Antiretroviral Therapy +6

A case of chronic infantile type of fucosidosis: clinical and magnetic resonance image findings

Koji Inui, Motohiro Akagi, Toshinori Nishigaki, +3

Brain and Development

Chronic Infantile TypePediatrics

Mutation analysis of two Japanese patients with Fanconi-Bickel syndrome

Motohiro Akagi, Koji Inui, Shigeo Nakajima, +7

Journal of Human Genetics

Genetic DisorderGeneticsPathogenesisPathologyMutation Analysis +2

Undetectable dystrophin can still result in a relatively benign phenotype of dystrophinopathy

Noriaki Hattori, Misako Kaido, Toshinori Nishigaki, +5

Neuromuscular Disorders

UrologyUndetectable DystrophinPathologyDegenerative DiseaseBenign Phenotype +1