AAAAAA

   
Results: 1-14 |
Results: 14
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
MITOCHONDRIAL DEOXYRIBONUCLEIC-ACID 3256C-T MUTATION IN A JAPANESE FAMILY WITH NONINSULIN-DEPENDENT DIABETES-MELLITUS
Authors: HIRAI M SUZUKI S ONODA M HINOKIO Y HIRAI A OHTOMO M CHIBA M KASUGA S HIRAI S SATOH Y AKAI H MIYABAYASHI S TOYOTA T
Citation: M. Hirai et al., MITOCHONDRIAL DEOXYRIBONUCLEIC-ACID 3256C-T MUTATION IN A JAPANESE FAMILY WITH NONINSULIN-DEPENDENT DIABETES-MELLITUS, The Journal of clinical endocrinology and metabolism, 83(3), 1998, pp. 992-994
IDENTIFICATION OF INHERITANCE MODES OF MITOCHONDRIAL DISEASES BY INTRODUCTION OF PURE NUCLEI FROM MTDNA-LESS HELA-CELLS TO PATIENT-DERIVED FIBROBLASTS
Authors: ISOBE K KISHINO S INOUE K TAKAI D HIRAWAKE H KITA K MIYABAYASHI S HAYASHI JI
Citation: K. Isobe et al., IDENTIFICATION OF INHERITANCE MODES OF MITOCHONDRIAL DISEASES BY INTRODUCTION OF PURE NUCLEI FROM MTDNA-LESS HELA-CELLS TO PATIENT-DERIVED FIBROBLASTS, The Journal of biological chemistry, 272(19), 1997, pp. 12606-12610
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
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
IDENTIFICATION AND CHARACTERIZATION OF PREDOMINANT MUTATIONS IN JAPANESE PATIENTS WITH HOLOCARBOXYLASE SYNTHETASE DEFICIENCY
Authors: AOKI Y SUZUKI Y SAKAMOTO O LI X MIYABAYASHI S NARISAWA K
Citation: Y. Aoki et al., IDENTIFICATION AND CHARACTERIZATION OF PREDOMINANT MUTATIONS IN JAPANESE PATIENTS WITH HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, American journal of human genetics, 57(4), 1995, pp. 1191-1191
FETAL LIVER-BIOPSY FOR PRENATAL-DIAGNOSIS OF CARBAMOYL-PHOSPHATE SYNTHETASE DEFICIENCY
Authors: MUROTSUKI J UEHARA S OKAMURA K YAJIMA A OURA T MIYABAYASHI S
Citation: J. Murotsuki et al., FETAL LIVER-BIOPSY FOR PRENATAL-DIAGNOSIS OF CARBAMOYL-PHOSPHATE SYNTHETASE DEFICIENCY, American journal of perinatology, 11(2), 1994, pp. 160-162
INFLUENCE OF AGING ON ONSET OF MITOCHONDRIAL DISEASE
Authors: MIYABAYASHI S HAYASHI JI TADA K
Citation: S. Miyabayashi et al., INFLUENCE OF AGING ON ONSET OF MITOCHONDRIAL DISEASE, Journal of inherited metabolic disease, 17(5), 1994, pp. 606-610
NUCLEAR BUT NOT MITOCHONDRIAL GENOME INVOLVEMENT IN HUMAN AGE-RELATEDMITOCHONDRIAL DYSFUNCTION - FUNCTIONAL INTEGRITY OF MITOCHONDRIAL-DNAFROM AGED SUBJECTS
Authors: HAYASHI JI OHTA S KAGAWA Y KONDO H KANEDA H YONEKAWA H TAKAI D MIYABAYASHI S
Citation: Ji. Hayashi et al., NUCLEAR BUT NOT MITOCHONDRIAL GENOME INVOLVEMENT IN HUMAN AGE-RELATEDMITOCHONDRIAL DYSFUNCTION - FUNCTIONAL INTEGRITY OF MITOCHONDRIAL-DNAFROM AGED SUBJECTS, The Journal of biological chemistry, 269(9), 1994, pp. 6878-6883
FUNCTIONAL AND MORPHOLOGICAL ABNORMALITIES OF MITOCHONDRIA IN HUMAN-CELLS CONTAINING MITOCHONDRIAL-DNA WITH PATHOGENIC POINT MUTATIONS IN TRANSFER-RNA GENES
Authors: HAYASHI JI OHTA S KAGAWA Y TAKAI D MIYABAYASHI S TADA K FUKUSHIMA H INUI K OKADA S GOTO Y NONAKA I
Citation: Ji. Hayashi et al., FUNCTIONAL AND MORPHOLOGICAL ABNORMALITIES OF MITOCHONDRIA IN HUMAN-CELLS CONTAINING MITOCHONDRIAL-DNA WITH PATHOGENIC POINT MUTATIONS IN TRANSFER-RNA GENES, The Journal of biological chemistry, 269(29), 1994, pp. 19060-19066
PANCREATIC BETA-CELL SECRETORY DEFECT ASSOCIATED WITH MITOCHONDRIAL POINT MUTATION OF THE TRNA(LEU(UUR)) GENE - A STUDY IN 7 FAMILIES WITH MITOCHONDRIAL ENCEPHALOMYOPATHY, LACTIC-ACIDOSIS AND STROKE-LIKE EPISODES (MELAS)
Authors: SUZUKI S HINOKIO Y HIRAI S ONODA M MATSUMOTO M OHTOMO M KAWASAKI H SATOH Y AKAI H ABE K MIYABAYASHI S KAWASAKI E NAGATAKI S TOYOTA T
Citation: S. Suzuki et al., PANCREATIC BETA-CELL SECRETORY DEFECT ASSOCIATED WITH MITOCHONDRIAL POINT MUTATION OF THE TRNA(LEU(UUR)) GENE - A STUDY IN 7 FAMILIES WITH MITOCHONDRIAL ENCEPHALOMYOPATHY, LACTIC-ACIDOSIS AND STROKE-LIKE EPISODES (MELAS), Diabetologia, 37(8), 1994, pp. 818-825
CLINICAL AND BIOCHEMICAL PHENOTYPE OF THE MELAS MUTATION
Authors: MIYABAYASHI S HANAMIZU H NAKAMURA R HAYASHI JI TADA K
Citation: S. Miyabayashi et al., CLINICAL AND BIOCHEMICAL PHENOTYPE OF THE MELAS MUTATION, Journal of inherited metabolic disease, 16(5), 1993, pp. 886-892
ACCUMULATION OF MTDNA WITH A MUTATION AT POSITION-3271 IN TRANSFER RNA(LEU)(UUR) GENE INTRODUCED FROM A MELAS PATIENT TO HELA-CELLS LACKINGMTDNA RESULTS IN PROGRESSIVE INHIBITION OF MITOCHONDRIAL RESPIRATORY-FUNCTION
Authors: HAYASHI JI OHTA S TAKAI D MIYABAYASHI S SAKUTA R GOTO Y NONAKA I
Citation: Ji. Hayashi et al., ACCUMULATION OF MTDNA WITH A MUTATION AT POSITION-3271 IN TRANSFER RNA(LEU)(UUR) GENE INTRODUCED FROM A MELAS PATIENT TO HELA-CELLS LACKINGMTDNA RESULTS IN PROGRESSIVE INHIBITION OF MITOCHONDRIAL RESPIRATORY-FUNCTION, Biochemical and biophysical research communications, 197(3), 1993, pp. 1049-1055
Risultati: 1-14 |