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Results: 1-25 | 26-42
Results: 1-25/42
MUTATION AND POLYMORPHIC MARKER ANALYSES OF 65K-GLUTAMATE AND 67K-GLUTAMATE DECARBOXYLASE GENES IN 2 FAMILIES WITH PYRIDOXINE-DEPENDENT EPILEPSY
Authors: KURE S SAKATA Y MIYABAYASHI S TAKAHASHI K SHINKA T MATSUBARA Y HOSHINO H NARISAWA K
Citation: S. Kure et al., MUTATION AND POLYMORPHIC MARKER ANALYSES OF 65K-GLUTAMATE AND 67K-GLUTAMATE DECARBOXYLASE GENES IN 2 FAMILIES WITH PYRIDOXINE-DEPENDENT EPILEPSY, JOURNAL OF HUMAN GENETICS, 43(2), 1998, pp. 128-131
A ONE-BASE DELETION (183DELC) AND A MISSENSE MUTATION (D276H) IN THE T-PROTEIN GENE FROM A JAPANESE FAMILY WITH NONKETOTIC HYPERGLYCINEMIA
Authors: KURE S SHINKA T SAKATA Y OSAMU N TAKAYANAGI M TADA K MATSUBARA Y NARISAWA K
Citation: S. Kure et al., A ONE-BASE DELETION (183DELC) AND A MISSENSE MUTATION (D276H) IN THE T-PROTEIN GENE FROM A JAPANESE FAMILY WITH NONKETOTIC HYPERGLYCINEMIA, JOURNAL OF HUMAN GENETICS, 43(2), 1998, pp. 135-137
2 CPT2 MUTATIONS IN 3 JAPANESE PATIENTS WITH CARNITINE PALMITOYLTRANSFERASE-II DEFICIENCY - FUNCTIONAL-ANALYSIS AND ASSOCIATION WITH POLYMORPHIC HAPLOTYPES AND 2 CLINICAL PHENOTYPES
Authors: WATAYA K AKANUMA J CAVADINI P AOKI Y KURE S INVERNIZZI F YOSHIDA I KIRA J TARONI F MATSUBARA Y NARISAWA K
Citation: K. Wataya et al., 2 CPT2 MUTATIONS IN 3 JAPANESE PATIENTS WITH CARNITINE PALMITOYLTRANSFERASE-II DEFICIENCY - FUNCTIONAL-ANALYSIS AND ASSOCIATION WITH POLYMORPHIC HAPLOTYPES AND 2 CLINICAL PHENOTYPES, Human mutation, 11(5), 1998, pp. 377-386
DEVELOPMENT OF RESTING SPORES ON PLANTS INOCULATED WITH A DIKARYOTIC RESTING SPORE OF PLASMODIOPHORA-BRASSICAE
Authors: NARISAWA K HASHIBA T
Citation: K. Narisawa et T. Hashiba, DEVELOPMENT OF RESTING SPORES ON PLANTS INOCULATED WITH A DIKARYOTIC RESTING SPORE OF PLASMODIOPHORA-BRASSICAE, Mycological research, 102, 1998, pp. 949-952
VARIABILITY OF BIOCHEMICAL AND CLINICAL PHENOTYPE IN X-LINKED LIVER GLYCOGENOSIS WITH MUTATIONS IN THE PHOSPHORYLASE-KINASE PHKA2 GENE
Authors: BURWINKEL B AMAT L GRAY RGF MATSUO N MUROYA K NARISAWA K SOKOL RJ VILASECA MA KILIMANN MW
Citation: B. Burwinkel et al., VARIABILITY OF BIOCHEMICAL AND CLINICAL PHENOTYPE IN X-LINKED LIVER GLYCOGENOSIS WITH MUTATIONS IN THE PHOSPHORYLASE-KINASE PHKA2 GENE, Human genetics, 102(4), 1998, pp. 423-429
A MISSENSE MUTATION (HIS42ARG) IN THE T-PROTEIN GENE FROM A LARGE ISRAELI-ARAB KINDRED WITH NONKETOTIC HYPERGLYCINEMIA
Authors: KURE S MANDEL H ROLLAND MO SAKATA Y SHINKA T DRUGAN A BONEH A TADA K MATSUBARA Y NARISAWA K
Citation: S. Kure et al., A MISSENSE MUTATION (HIS42ARG) IN THE T-PROTEIN GENE FROM A LARGE ISRAELI-ARAB KINDRED WITH NONKETOTIC HYPERGLYCINEMIA, Human genetics, 102(4), 1998, pp. 430-434
IDENTIFICATION OF HOLOCARBOXYLASE SYNTHETASE (HCS) PROTEINS IN HUMAN PLACENTA
Authors: HIRATSUKA M SAKAMOTO O LI X SUZUKI Y AOKI Y NARISAWA K
Citation: M. Hiratsuka et al., IDENTIFICATION OF HOLOCARBOXYLASE SYNTHETASE (HCS) PROTEINS IN HUMAN PLACENTA, Biochimica et biophysica acta. Protein structure and molecular enzymology, 1385(1), 1998, pp. 165-171
A SUBTYPE OF PYRIDOXINE-DEPENDENT EPILEPSY WITH NORMAL CSF GLUTAMATE CONCENTRATION
Authors: KURE S MAEDA T FUKUSHIMA N OHURA T TAKAHASHI K NISHIKAWA T MATSUBARA Y IZUMI T NARISAWA K
Citation: S. Kure et al., A SUBTYPE OF PYRIDOXINE-DEPENDENT EPILEPSY WITH NORMAL CSF GLUTAMATE CONCENTRATION, Journal of inherited metabolic disease, 21(4), 1998, pp. 431-432
SUPPRESSION OF CLUBROOT FORMATION IN CHINESE-CABBAGE BY THE ROOT ENDOPHYTIC FUNGUS, HETEROCONIUM-CHAETOSPIRA
Authors: NARISAWA K TOKUMASU S HASHIBA T
Citation: K. Narisawa et al., SUPPRESSION OF CLUBROOT FORMATION IN CHINESE-CABBAGE BY THE ROOT ENDOPHYTIC FUNGUS, HETEROCONIUM-CHAETOSPIRA, Plant Pathology, 47(2), 1998, pp. 206-210
MOLECULAR ANALYSIS OF GLYCOGEN-STORAGE-DISEASE TYPE IB - IDENTIFICATION OF A PREVALENT MUTATION AMONG JAPANESE PATIENTS AND ASSIGNMENT OF APUTATIVE GLUCOSE-6-PHOSPHATE TRANSLOCASE GENE TO CHROMOSOME-11
Authors: KURE S SUZAKI Y MATSUBARA Y SAKAMOTO O SHINTAKU H ISSHIKI G HOSHIDA C IZUMI I SAKURA N NARISAWA K
Citation: S. Kure et al., MOLECULAR ANALYSIS OF GLYCOGEN-STORAGE-DISEASE TYPE IB - IDENTIFICATION OF A PREVALENT MUTATION AMONG JAPANESE PATIENTS AND ASSIGNMENT OF APUTATIVE GLUCOSE-6-PHOSPHATE TRANSLOCASE GENE TO CHROMOSOME-11, Biochemical and biophysical research communications (Print), 248(2), 1998, pp. 426-431
DINUCLEOTIDE REPEAT POLYMORPHISM IN 65K-GLUTAMATE DECARBOXYLASE GENE
Authors: KURE S AOKI Y SHINKA T SAKATA Y MATSUBARA Y NARISAWA K
Citation: S. Kure et al., DINUCLEOTIDE REPEAT POLYMORPHISM IN 65K-GLUTAMATE DECARBOXYLASE GENE, JPN J HUM G, 42(3), 1997, pp. 429-431
NONKETOTIC HYPERGLYCINEMIA - BIOCHEMICAL, MOLECULAR, AND NEUROLOGICALASPECTS
Authors: KURE S TADA K NARISAWA K
Citation: S. Kure et al., NONKETOTIC HYPERGLYCINEMIA - BIOCHEMICAL, MOLECULAR, AND NEUROLOGICALASPECTS, JPN J HUM G, 42(1), 1997, pp. 13-22
MOLECULAR ANALYSIS OF DIHYDROPTERIDINE REDUCTASE DEFICIENCY - IDENTIFICATION OF 2 NOVEL MUTATIONS IN JAPANESE PATIENTS
Authors: IKEDA H MATSUBARA Y MIKAMI H KURE S OWADA M GOUGH T SMOOKER PM DOBBS M DAHL HHM COTTON RGH NARISAWA K
Citation: H. Ikeda et al., MOLECULAR ANALYSIS OF DIHYDROPTERIDINE REDUCTASE DEFICIENCY - IDENTIFICATION OF 2 NOVEL MUTATIONS IN JAPANESE PATIENTS, Human genetics, 100(5-6), 1997, pp. 637-642
CHARACTERIZATION OF MUTANT HOLOCARBOXYLASE SYNTHETASE (HCS) - A K-M FOR BIOTIN WAS NOT ELEVATED IN A PATIENT WITH HCS DEFICIENCY
Authors: AOKI Y SUZUKI Y LI X SAKAMOTO O CHIKAOKA H TAKITA S NARISAWA K
Citation: Y. Aoki et al., CHARACTERIZATION OF MUTANT HOLOCARBOXYLASE SYNTHETASE (HCS) - A K-M FOR BIOTIN WAS NOT ELEVATED IN A PATIENT WITH HCS DEFICIENCY, Pediatric research, 42(6), 1997, pp. 849-854
KINETIC CHARACTERISTICS OF THROMBIN RECEPTOR-MEDIATED RESPONSES IN RAT MEGAKARYOCYTES
Authors: UNEYAMA C UNEYAMA H NARISAWA K TAKAHASHI M AKAIKE N
Citation: C. Uneyama et al., KINETIC CHARACTERISTICS OF THROMBIN RECEPTOR-MEDIATED RESPONSES IN RAT MEGAKARYOCYTES, European journal of pharmacology, 319(2-3), 1997, pp. 299-305
SKIN-TEST FOR DETECTION OF CELLULAR AUTOIMMUNITY TO GAD65 IN IDDM - ASTUDY IN NOD MOUSE
Authors: MUTO Y KURE S SAKATA Y MASUDA T SHINKA T MATSUBARA Y SATOH J NARISAWA K
Citation: Y. Muto et al., SKIN-TEST FOR DETECTION OF CELLULAR AUTOIMMUNITY TO GAD65 IN IDDM - ASTUDY IN NOD MOUSE, Diabetologia, 40, 1997, pp. 346-346
DEPLETION OF CEREBRAL D-SERINE IN NONKETOTIC HYPERGLYCINEMIA - POSSIBLE INVOLVEMENT OF GLYCINE CLEAVAGE SYSTEM IN CONTROL OF ENDOGENOUS D-SERINE
Authors: IWAMA H TAKAHASHI K KURE S HAYASHI F NARISAWA K TADA K MIZOGUCHI M TAKASHIMA S TOMITA U NISHIKAWA T
Citation: H. Iwama et al., DEPLETION OF CEREBRAL D-SERINE IN NONKETOTIC HYPERGLYCINEMIA - POSSIBLE INVOLVEMENT OF GLYCINE CLEAVAGE SYSTEM IN CONTROL OF ENDOGENOUS D-SERINE, Biochemical and biophysical research communications, 231(3), 1997, pp. 793-796
EFFICIENT ROOT INFECTION WITH SINGLE RESTING SPORES OF PLASMODIOPHORA-BRASSICAE
Authors: NARISAWA K KAGEYAMA K HASHIBA T
Citation: K. Narisawa et al., EFFICIENT ROOT INFECTION WITH SINGLE RESTING SPORES OF PLASMODIOPHORA-BRASSICAE, Mycological research, 100, 1996, pp. 855-858
ASSOCIATION OF A MUTATION IN THIAZIDE-SENSITIVE NA-CL COTRANSPORTER WITH FAMILIAL GITELMANS-SYNDROME
Authors: TAKEUCHI K KURE S KATO T TANIYAMA Y TAKAHASHI N IKEDA Y ABE T NARISAWA K MURAMATSU Y ABE K
Citation: K. Takeuchi et al., ASSOCIATION OF A MUTATION IN THIAZIDE-SENSITIVE NA-CL COTRANSPORTER WITH FAMILIAL GITELMANS-SYNDROME, The Journal of clinical endocrinology and metabolism, 81(12), 1996, pp. 4496-4499
ENZYMATIC DIAGNOSIS OF HOLOCARBOXYLASE SYNTHETASE DEFICIENCY USING APO-CARBOXYL CARRIER PROTEIN AS A SUBSTRATE
Authors: SUZUKI Y AOKI Y SAKAMOTO O LI X MIYABAYASHI S KAZUTA Y KONDO H NARISAWA K
Citation: Y. Suzuki et al., ENZYMATIC DIAGNOSIS OF HOLOCARBOXYLASE SYNTHETASE DEFICIENCY USING APO-CARBOXYL CARRIER PROTEIN AS A SUBSTRATE, Clinica chimica acta, 251(1), 1996, pp. 41-52
MOLECULAR ANALYSIS OF HOLOCARBOXYLASE SYNTHETASE DEFICIENCY - A MISSENSE MUTATION AND A SINGLE-BASE DELETION ARE PREDOMINANT IN JAPANESE PATIENTS
Authors: AOKI Y SUZUKI Y SAKAMOTO O LI X TAKAHASHI K OHTAKE A SAKUTA R OHURA T MIYABAYASHI S NARISAWA K
Citation: Y. Aoki et al., MOLECULAR ANALYSIS OF HOLOCARBOXYLASE SYNTHETASE DEFICIENCY - A MISSENSE MUTATION AND A SINGLE-BASE DELETION ARE PREDOMINANT IN JAPANESE PATIENTS, Biochimica et biophysica acta. Molecular basis of disease, 1272(3), 1995, pp. 168-174
VARIANCE OF AGE AT ONSET IN A JAPANESE FAMILY WITH AMYOTROPHIC-LATERAL-SCLEROSIS ASSOCIATED WITH A NOVEL CU ZN SUPEROXIDE-DISMUTASE MUTATION/
Authors: AOKI M ABE K HOUI K OGASAWARA M MATSUBARA Y KOBAYASHI T MOCHIO S NARISAWA K ITOYAMA Y
Citation: M. Aoki et al., VARIANCE OF AGE AT ONSET IN A JAPANESE FAMILY WITH AMYOTROPHIC-LATERAL-SCLEROSIS ASSOCIATED WITH A NOVEL CU ZN SUPEROXIDE-DISMUTASE MUTATION/, Annals of neurology, 37(5), 1995, pp. 676-679
A NOVEL SPLICING MUTATION IN PROPIONIC ACIDEMIA ASSOCIATED WITH A TETRANUCLEOTIDE DIRECT REPEAT IN THE PCCB GENE
Authors: OHURA T NARISAWA K TADA K IINUMA K
Citation: T. Ohura et al., A NOVEL SPLICING MUTATION IN PROPIONIC ACIDEMIA ASSOCIATED WITH A TETRANUCLEOTIDE DIRECT REPEAT IN THE PCCB GENE, Human genetics, 95(6), 1995, pp. 707-708
PRENATAL-DIAGNOSIS AND THERAPY FOR A PATIENT WITH VITAMIN-B-12-RESPONSIVE METHYLMALONIC ACIDEMIA
Authors: SODA H OHURA T YOSHIDA I ARAMAKI S AOKI K INOKUCHI T MIKAMI H NARISAWA K
Citation: H. Soda et al., PRENATAL-DIAGNOSIS AND THERAPY FOR A PATIENT WITH VITAMIN-B-12-RESPONSIVE METHYLMALONIC ACIDEMIA, Journal of inherited metabolic disease, 18(3), 1995, pp. 295-298
PROGRESSIVE PULMONARY-HYPERTENSION - A FATAL COMPLICATION OF TYPE-I GLYCOGEN-STORAGE-DISEASE
Authors: OHURA T INOUE CN ABUKAWA D CHIBA AT TANAKA T KAKIZAWA H MIYABAYASHI S IGARASHI Y IINUMA K NARISAWA K
Citation: T. Ohura et al., PROGRESSIVE PULMONARY-HYPERTENSION - A FATAL COMPLICATION OF TYPE-I GLYCOGEN-STORAGE-DISEASE, Journal of inherited metabolic disease, 18(3), 1995, pp. 361-362
Risultati: 1-25 | 26-42