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Results: 1-15 |
Results: 15
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
EXPRESSION OF FRATAXIN GENE AND GENE-PRODUCT IN THE MAMMALIAN CENTRAL-NERVOUS-SYSTEM
Authors: GIAVAZZI A PRINCIVALLE A CAVADINI P TARONI F BATTAGLIA G
Citation: A. Giavazzi et al., EXPRESSION OF FRATAXIN GENE AND GENE-PRODUCT IN THE MAMMALIAN CENTRAL-NERVOUS-SYSTEM, European journal of neuroscience, 10, 1998, pp. 12215-12215
EVIDENCES THAT HUMAN FRATAXIN LOCALIZES IN THE MITOCHONDRIA AND IS EXPRESSED IN NEURAL TISSUES SELECTIVELY AFFECTED IN FRIEDREICHS ATAXIA
Authors: CAVADINI P DIBLASI C PRINCIVALLE A BARATTA S DIDONATO S BATTAGLIA G MORA M TARONI F
Citation: P. Cavadini et al., EVIDENCES THAT HUMAN FRATAXIN LOCALIZES IN THE MITOCHONDRIA AND IS EXPRESSED IN NEURAL TISSUES SELECTIVELY AFFECTED IN FRIEDREICHS ATAXIA, American journal of human genetics, 61(4), 1997, pp. 219-219
GENE MICROMUTATIONS IN FRIEDREICHS ATAXIA ALLELES NOT CARRYING THE GAA EXPANSION
Authors: BOTTI S CASTELLOTTI B RIGGIO MC BARATTA S DIDONATO S CAVADINI P GELLERA C TARONI F
Citation: S. Botti et al., GENE MICROMUTATIONS IN FRIEDREICHS ATAXIA ALLELES NOT CARRYING THE GAA EXPANSION, American journal of human genetics, 61(4), 1997, pp. 1912-1912
CANDIDA-ALBICANS HOMOLOG OF GGP1 GAS1 GENE IS FUNCTIONAL IN SACCHAROMYCES-CEREVISIAE AND CONTAINS THE DETERMINANTS FOR GLYCOSYLPHOSPHATIDYLINOSITOL ATTACHMENT/
Authors: VAI M ORLANDI I CAVADINI P ALBERGHINA L POPOLO L
Citation: M. Vai et al., CANDIDA-ALBICANS HOMOLOG OF GGP1 GAS1 GENE IS FUNCTIONAL IN SACCHAROMYCES-CEREVISIAE AND CONTAINS THE DETERMINANTS FOR GLYCOSYLPHOSPHATIDYLINOSITOL ATTACHMENT/, Yeast, 12(4), 1996, pp. 361-368
CLONING, SEQUENCING AND REGULATION OF A CDNA-ENCODING A SMALL HEAT-SHOCK PROTEIN FROM SCHIZOSACCHAROMYCES-POMBE
Authors: ORLANDI I CAVADINI P POPOLO L VAI M
Citation: I. Orlandi et al., CLONING, SEQUENCING AND REGULATION OF A CDNA-ENCODING A SMALL HEAT-SHOCK PROTEIN FROM SCHIZOSACCHAROMYCES-POMBE, Biochimica et biophysica acta, N. Gene structure and expression, 1307(2), 1996, pp. 129-131
MOLECULAR ANALYSIS OF CARNITINE PALMITOYLTRANSFERASE-II DEFICIENCY WITH HEPATOCARDIOMUSCULAR EXPRESSION
Authors: BONNEFONT JP TARONI F CAVADINI P CEPANEC C BRIVET M SAUDUBRAY JM LEROUX JP DEMAUGRE F
Citation: Jp. Bonnefont et al., MOLECULAR ANALYSIS OF CARNITINE PALMITOYLTRANSFERASE-II DEFICIENCY WITH HEPATOCARDIOMUSCULAR EXPRESSION, American journal of human genetics, 58(5), 1996, pp. 971-978
CARNITINE PALMITOYLTRANSFERASE-II DEFICIENCY - STRUCTURE OF THE GENE AND CHARACTERIZATION OF 2 NOVEL DISEASE-CAUSING MUTATIONS
Authors: VERDERIO E CAVADINI P MONTERMINI L WANG HW LAMANTEA E FINOCCHIARO G DIDONATO S GELLERA C TARONI F
Citation: E. Verderio et al., CARNITINE PALMITOYLTRANSFERASE-II DEFICIENCY - STRUCTURE OF THE GENE AND CHARACTERIZATION OF 2 NOVEL DISEASE-CAUSING MUTATIONS, Human molecular genetics, 4(1), 1995, pp. 19-29
ASSIGNMENT OF THE HUMAN CARNITINE PALMITOYLTRANSFERASE-II GENE (CPT1)TO CHROMOSOME-1P32
Authors: GELLERA C VERDERIO E FLORIDIA G FINOCCHIARO G MONTERMINI L CAVADINI P ZUFFARDI O TARONI F
Citation: C. Gellera et al., ASSIGNMENT OF THE HUMAN CARNITINE PALMITOYLTRANSFERASE-II GENE (CPT1)TO CHROMOSOME-1P32, Genomics, 24(1), 1994, pp. 195-197
IN SACCHAROMYCES-CEREVISIAE OVEREXPRESSION OF HYBRID VIRUS-LIKE-PARTICLES CORRELATES WITH ALTERED CELL-VOLUME DISTRIBUTIONS
Authors: CAVADINI P POPOLO L VAI M VARONA R GAROFANO L VANONI M
Citation: P. Cavadini et al., IN SACCHAROMYCES-CEREVISIAE OVEREXPRESSION OF HYBRID VIRUS-LIKE-PARTICLES CORRELATES WITH ALTERED CELL-VOLUME DISTRIBUTIONS, Biotechnology letters, 16(11), 1994, pp. 1131-1134
IDENTIFICATION OF A COMMON MUTATION IN THE CARNITINE PALMITOYLTRANSFERASE II GENE IN FAMILIAL RECURRENT MYOGLOBINURIA PATIENTS
Authors: TARONI F VERDERIO E DWORZAK F WILLEMS PJ CAVADINI P DIDONATO S
Citation: F. Taroni et al., IDENTIFICATION OF A COMMON MUTATION IN THE CARNITINE PALMITOYLTRANSFERASE II GENE IN FAMILIAL RECURRENT MYOGLOBINURIA PATIENTS, Nature genetics, 4(3), 1993, pp. 314-319
TRANSCRIPT ACCUMULATION OF THE GGP1-GENE, ENCODING A YEAST GPI-ANCHORED GLYCOPROTEIN, IS INHIBITED DURING ARREST IN THE G(1)-PHASE AND DURING SPORULATION
Authors: POPOLO L CAVADINI P VAI M ALBERGHINA L
Citation: L. Popolo et al., TRANSCRIPT ACCUMULATION OF THE GGP1-GENE, ENCODING A YEAST GPI-ANCHORED GLYCOPROTEIN, IS INHIBITED DURING ARREST IN THE G(1)-PHASE AND DURING SPORULATION, Current genetics, 24(5), 1993, pp. 382-387
IDENTIFICATION OF THE MOST COMMON MUTATION UNDERLYING CARNITINE PALMITOYL TRANSFERASE-II (CPT-II) DEFICIENCY
Authors: TARONI F VERDERIO E CAVADINI P GELLERA C DWORZAK F DIDONATO S
Citation: F. Taroni et al., IDENTIFICATION OF THE MOST COMMON MUTATION UNDERLYING CARNITINE PALMITOYL TRANSFERASE-II (CPT-II) DEFICIENCY, Neurology, 43(4), 1993, pp. 278-279
THE MOLECULAR-BASES OF CARNITINE PALMITOYLTRANSFERASE (CPT)-II DEFICIENCY
Authors: TARONI F VERDERIO E CAVADINI P LAMANTEA E GELLERA C DIDONATO S
Citation: F. Taroni et al., THE MOLECULAR-BASES OF CARNITINE PALMITOYLTRANSFERASE (CPT)-II DEFICIENCY, American journal of human genetics, 53(3), 1993, pp. 155-155
STRUCTURE OF THE HUMAN CARNITINE PALMITOYLTRANSFERASE (CPT)-II GENE -DETERMINATION OF THE EXON INTRON COMPOSITION USING INVERSE PCR/
Authors: VERDERIO E CAVADINI P MONTEMINI L DIDONATO S GELLERA C TARONI F
Citation: E. Verderio et al., STRUCTURE OF THE HUMAN CARNITINE PALMITOYLTRANSFERASE (CPT)-II GENE -DETERMINATION OF THE EXON INTRON COMPOSITION USING INVERSE PCR/, American journal of human genetics, 53(3), 1993, pp. 738-738
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