De novo mutation of the myelin Po gene in Dejerine–Sottas disease (hereditary motor and sensory neuropathy type III)

Kiyoshi Hayasaka, Masato Himoro, Yukio Sawaishi, +6

Nature Genetics

Hereditary MotorNeurobiology Of DiseaseDejerine–sottas DiseaseNeurological DisorderMedicine +12

Phenotypic spectrum of CHARGE syndrome with CHD7 mutations

Michihiko Aramaki, Toru Udaka, Rika Kosaki, +12

The Journal of Pediatrics

Mendelian DisorderGenetic DisorderGeneticsInherited Metabolic DiseaseCharge Syndrome +3

Isolation and sequence determination of cDNA encoding the major structural protein of human peripheral myelin

Kiyoshi Hayasaka, Kenji Nanao, Marie Tahara, +4

Biochemical and Biophysical Research Communications

Human Peripheral MyelinSequence DeterminationMajor Structural ProteinNeuroanatomyMolecular Biology +5

Hydrochlorothiazide Effectively Reduces Urinary Calcium Excretion in Two Japanese Patients with Gain-of-Function Mutations of the Calcium-Sensing Receptor Gene

Kohei Sato, Yukihiro Hasegawa, Jun Nakae, +5

The Journal of Clinical Endocrinology & Metabolism

Mother and daughter with 45,X/46,X,r(X)(p22.3q28) and mental retardation: Analysis of the x-inactivation patterns

M Matsuo, Koji Muroya, Kenji Nanao, +4

American Journal of Medical Genetics

Identification of the mutations in the T-protein gene causing typical and atypical nonketotic hyperglycinemia

Kenji Nanao, Kazuko Okamura‐Ikeda, Yutaro Motokawa, +4

Human Genetics

Atypical Nonketotic HyperglycinemiaGenetic DisorderGeneticsInherited Metabolic DiseaseProtein Genetics +6

Structure and Chromosomal Localization of the Aminomethyltransferase Gene (AMT)

Kenji Nanao, Goro Takada, Eiichi Takahashi, +5

Genomics

GeneticsGenome StructureMolecular BiologyGene StructureMolecular Genetics +4

Isolation and sequence determination of cDNA encoding PMP-22 (PAS-II/SR13/Gas-3) of human peripheral myelin

Kiyoshi Hayasaka, Masato Himoro, Kenji Nanao, +5

Biochemical and Biophysical Research Communications

Human Peripheral MyelinMolecular NeuroscienceSequence DeterminationMedicinePhysiology +6

Isolation and Sequence Determination of cDNA Encoding Human T-Protein of the Glycine Cleavage System

Kiyoshi Hayasaka, Kenji Nanao, Goro Takada, +2

Biochemical and Biophysical Research Communications

Protein FunctionProtein ExpressionSequence DeterminationBiochemistryNatural Sciences +7

Low Vertebral Cancellous Bone Density in Peripubertal Girls with Turner's Syndrome and Boys with Hypogonadism

Kenji Nanao, Yasuo Tsuchiya, Shinobu Kotoh, +1

Journal of Pediatric Endocrinology and Metabolism