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Results: 1-25/45
Authors:
LOPES J
RAVISE N
VANDENEBRGHE A
PALAU F
IONASESCU V
MAYER M
LEVY N
WOOD N
TACHI N
BOUCHE P
LATOUR P
RUBERG M
BRICE A
LEGUERN E
Citation: J. Lopes et al., SEX-DEPENDENT REARRANGEMENTS RESULTING IN CMT1A AND HNPP, European journal of human genetics, 6, 1998, pp. 4267-4267
Authors:
LOPES J
RAVISE N
VANDENBERGHE A
PALAU F
IONASESCU V
MAYER M
LEVY N
WOOD N
TACHI N
BOUCHE P
LATOUR P
RUBERG M
BRICE A
LEGUERN E
Citation: J. Lopes et al., FINE MAPPING OF DE-NOVO CMT1A AND HNPP REARRANGEMENTS WITHIN CMT1A-REPS EVIDENCES 2 DISTINCT SEX-DEPENDENT MECHANISMS AND CANDIDATE SEQUENCES INVOLVED IN RECOMBINATION, Human molecular genetics, 7(1), 1998, pp. 141-148
Authors:
SUZUKI Y
WADA T
SAKAI T
ISHIKAWA Y
MINAMI R
TACHI N
SAITOH S
Citation: Y. Suzuki et al., PHENOTYPIC VARIABILITY IN A FAMILY WITH A MITOCHONDRIAL-DNA T8993C MUTATION, Pediatric neurology, 19(4), 1998, pp. 283-286
Authors:
NUMATA K
TSUTSUMI H
WAKAI S
TACHI N
CHIBA S
Citation: K. Numata et al., A CHILD CASE OF HEMOPHAGOCYTIC SYNDROME-ASSOCIATED WITH CRYPTOCOCCAL MENINGOENCEPHALITIS, The Journal of infection, 36(1), 1998, pp. 118-119
Authors:
TACHI N
KOZUKA N
OHYA K
CHIBA S
YAMASHITA S
Citation: N. Tachi et al., A SMALL DIRECT TANDEM DUPLICATION OF THE MYELIN PROTEIN ZERO GENE IN A PATIENT WITH DEJERINE-SOTTAS-DISEASE PHENOTYPE, Journal of the neurological sciences, 156(2), 1998, pp. 167-171
Authors:
LOPES J
VANDENBERGHE A
TARDIEU S
IONASESCU V
LEVY N
WOOD N
TACHI N
BOUCHE P
LATOUR P
BRICE A
LEGUERN E
Citation: J. Lopes et al., SEX-DEPENDENT REARRANGEMENTS RESULTING IN CMT1A AND HNPP, Nature genetics, 17(2), 1997, pp. 136-137
Authors:
IKEGAMI T
IKEDA H
CHANCE PE
KIYOSAWA H
YAMAMOTO M
SOBUE G
OHNISHI A
TACHI N
HAYASAKA K
Citation: T. Ikegami et al., FACILITATED DIAGNOSIS OF CMT1A DUPLICATION IN CHROMOSOME 17P11.2-12 -ANALYSIS WITH A CMT1A-REP REPEAT PROBE AND PHOTOSTIMULATED LUMINESCENCE IMAGING, Human mutation, 9(6), 1997, pp. 563-566
Authors:
OHYA K
TACHI N
SATO T
KON S
KIKUCHI K
CHIBA S
Citation: K. Ohya et al., DETECTION OF THE CTG REPEAT EXPANSION IN CONGENITAL MYOTONIC-DYSTROPHY, JPN J HUM G, 42(1), 1997, pp. 169-180
Authors:
YAMADA H
NAITO T
MIWA K
TACHI N
WADA H
Citation: H. Yamada et al., A NEW RELATIONSHIP ON THE PARTITION EQUILIBRIUM OF CARBOXYLIC-ACIDS BETWEEN 1-OCTANOL WATER AND BENZENE/WATER SYSTEMS/, Analytical sciences, 13(6), 1997, pp. 897-902
Authors:
TACHI N
KOZUKA N
OHYA K
CHIBA S
Citation: N. Tachi et al., DE-NOVO MUTATION OF CHARCOT-MARIE-TOOTH DISEASE TYPE 1A, Pediatric neurology, 17(1), 1997, pp. 67-69
Authors:
TACHI N
OHYA K
YAMAGATA H
MIKI T
KIKUCHI K
CHIBA S
Citation: N. Tachi et al., HAPLOTYPE ANALYSIS OF CONGENITAL MYOTONIC-DYSTROPHY PATIENTS FROM ASYMPTOMATIC DM FATHER, Pediatric neurology, 16(4), 1997, pp. 315-318
Authors:
KOZUKA N
TACHI N
OHYA K
CHIBA S
Citation: N. Kozuka et al., MOLECULAR AND PATHOLOGICAL-STUDIES IN CHARCOT-MARIE-TOOTH DISEASE 1A, Brain & development, 19(7), 1997, pp. 464-468
Authors:
OHYA K
TACHI N
KOZUKA N
KON SI
KIKUCHI K
CHIBA S
Citation: K. Ohya et al., DETECTION OF THE MUTATION IN FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY PATIENTS, Acta Paediatrica Japonica Overseas Edition, 39(1), 1997, pp. 92-96
Authors:
TACHI N
HASHIMOTO Y
OFUCHI H
OGINO N
Citation: N. Tachi et al., VITRECTOMY FOR DIABETIC MACULAR EDEMA, Investigative ophthalmology & visual science, 38(4), 1997, pp. 3538-3538
Authors:
TACHI N
OHYA K
CHIBA S
MATSUO M
PATRIA SY
MATSUMURA K
Citation: N. Tachi et al., DEFICIENCY OF SYNTROPHIN, DYSTROGLYCAN, AND MEROSIN IN A FEMALE INFANT WITH A CONGENITAL MUSCULAR-DYSTROPHY PHENOTYPE LACKING CYSTEINE-RICHAND C-TERMINAL DOMAINS OF DYSTROPHIN, Neurology, 49(2), 1997, pp. 579-583
Authors:
TACHI N
KOZUKA N
OHYA K
CHIBA S
SASAKI K
Citation: N. Tachi et al., TOMACULOUS NEUROPATHY IN CHARCOT-MARIE-TOOTH-DISEASE WITH MYELIN PROTEIN ZERO GENE MUTATION, Journal of the neurological sciences, 153(1), 1997, pp. 106-109
Authors:
TACHI N
KAMIMURA S
OHYA K
CHIBA S
SASAKI K
Citation: N. Tachi et al., CONGENITAL MUSCULAR-DYSTROPHY WITH PARTIAL DEFICIENCY OF MEROSIN, Journal of the neurological sciences, 151(1), 1997, pp. 25-27
Authors:
KUBOTA M
YAMAURA A
ONO J
ITANI T
TACHI N
UEDA K
NAGATA I
SUGIMOTO S
Citation: M. Kubota et al., IS FAMILY HISTORY AN INDEPENDENT RISK FACTOR FOR STROKE, Journal of Neurology, Neurosurgery and Psychiatry, 62(1), 1997, pp. 66-70
Authors:
LEGUERN E
LOPES J
RAVISE N
VANDENBERGHE A
TARDIEU S
IONASESCU V
LEVY N
WOOD N
TACHI N
LATOUR P
BRICE A
Citation: E. Leguern et al., ANALYSIS OF THE CROSSOVER BREAKPOINTS IN 29 CMT1A AND 4 HNPP DE-NOVO PATIENTS, American journal of human genetics, 61(4), 1997, pp. 1384-1384
Authors:
TACHI N
KOZUKA N
OHYA K
CHIBA S
KIKUCHI K
Citation: N. Tachi et al., CTG REPEAT SIZE AND HISTOLOGIC-FINDINGS OF SKELETAL-MUSCLE FROM PATIENTS WITH CONGENITAL MYOTONIC-DYSTROPHY, Journal of child neurology, 11(6), 1996, pp. 430-432
Authors:
MIMAKI T
NITTA M
SAIJO M
TACHI N
MINAMI R
TANAKA K
Citation: T. Mimaki et al., TRUNCATED XPA PROTEIN DETECTED IN ATYPICAL GROUP-A XERODERMA-PIGMENTOSUM, Acta paediatrica, 85(4), 1996, pp. 511-513
Authors:
SASAKI K
SUGA K
TSUGAWA S
SAKUMA K
TACHI N
CHIBA S
IMAMURA S
Citation: K. Sasaki et al., MUSCLE PATHOLOGY IN MARINESCO-SJOGREN SYNDROME - A UNIQUE ULTRASTRUCTURAL FEATURE, Brain & development, 18(1), 1996, pp. 64-67
Authors:
TACHI N
KOZUKA N
OHYA K
CHIBA S
SASAKI K
UYEMURA K
HAYASAKA K
Citation: N. Tachi et al., A NEW MUTATION OF THE PO GENE IN PATIENTS WITH CHARCOT-MARIE-TOOTH DISEASE TYPE 1B - SCREENING OF THE PO GENE BY HETERODUPLEX ANALYSIS, Neuroscience letters, 204(3), 1996, pp. 173-176
Authors:
TACHI N
KOZUKA N
OHYA K
CHIBA S
KIKUCHI K
Citation: N. Tachi et al., IMMUNOCYTOCHEMICAL LOCALIZATION OF MYOTONIN PROTEIN-KINASE ON MUSCLE FROM PATIENTS WITH CONGENITAL MYOTONIC-DYSTROPHY, Histology and histopathology, 11(4), 1996, pp. 869-871
Authors:
NAOI N
NAKANO T
SAWADA A
OGINO N
TACHI N
Citation: N. Naoi et al., EPITHELIUM ON POSTOPERATIVE VISUAL RECOVERY AFTER VITRECTOMY FOR IDIOPATHIC MACULAR HOLES, Investigative ophthalmology & visual science, 37(3), 1996, pp. 1974-1974