A Subtype of Diabetes Mellitus Associated with a Mutation of Mitochondrial DNA

Takashi Kadowaki, Hiroko Kadowaki, Yasumichi Mori, +16

New England Journal of Medicine

Myelin deficiencies in both the central and the peripheral nervous systems associated with aSOX10 mutation

Ken Inoue, Yuzo Tanabe, James R. Lupski

Annals of Neurology

Neurological DisorderGeneticsUnique PatientDisease Gene IdentificationPeripheral Nerves +18

Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness

Terumi Murakami, Yukiko Hayashi, S. Noguchi, +10

Annals of Neurology

Leigh syndrome: serial MR imaging and clinical follow-up.

Junko Arii, Yuzo Tanabe

PubMed

Methyl CpG-Binding Protein 2 (a Mutation of Which Causes Rett Syndrome) Directly Regulates Insulin-Like Growth Factor Binding Protein 3 in Mouse and Human Brains

Masayuki Itoh, Shuhei Ide, Sachio Takashima, +9

Journal of Neuropathology & Experimental Neurology

Brain DevelopmentRett SyndromeEpigeneticsInsulin SignalingMetabolic Syndrome +15

Electrophysiological subtypes and prognosis of childhood Guillain–Barré syndrome in Japan

Kasumi Nagasawa, Satoshi Kuwabara, Sonoko Misawa, +5

Muscle & Nerve

Japanese Gbs ChildrenSpinal Cord InjuryNeurological DisorderMedicineClinical Neurology +13

Decreased Cerebrospinal Fluid Hypocretin-1 Levels Near the Onset of Narcolepsy in 2 Prepubertal Children

Hiroaki Kubota, Takashi Kanbayashi, Yuzo Tanabe, +4

SLEEP

Sleep DisordersParasomniasSocial SciencesSleep MedicineCerebrospinal Fluid +17

Epilepsy in Peroxisomal Diseases

Yukitoshi Takahashi, Yasuyuki Suzuki, K. Kumazaki, +8

Epilepsia

Peroxisomal acyl CoA oxidase deficiency

Yasuyuki Suzuki, Mizue Iai, Atsushi Kamei, +7

The Journal of Pediatrics

BiochemistryLipid PeroxidationMetabolismMedicineRedox Biology +1

A Case of Acute Disseminated Encephalomyelitis Presenting Hypersomnia With Decreased Hypocretin Level in Cerebrospinal Fluid

Hiroaki Kubota, Takashi Kanbayashi, Yuzo Tanabe, +1

Journal of Child Neurology