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Results: 1-25 | 26-27

Results: 1-25/27

CELL-SPECIFICITY OF THE MOLECULAR DEFECT IN FRIEDREICH ATAXIA

Authors: PANDOLFO M MONTERMINI L COVA L OHSHIMA K JIRALERSPONG S SHOUBRIDGE E KAPLAN J

Citation: M. Pandolfo et al., CELL-SPECIFICITY OF THE MOLECULAR DEFECT IN FRIEDREICH ATAXIA, Annals of neurology, 44(3), 1998, pp. 122-122

PRENATAL-DIAGNOSIS OF FRIEDREICH ATAXIA

Authors: PANDOLFO M MONTERMINI L

Citation: M. Pandolfo et L. Montermini, PRENATAL-DIAGNOSIS OF FRIEDREICH ATAXIA, Prenatal diagnosis, 18(8), 1998, pp. 831-833

IRON, OXIDATIVE STRESS AND FRIEDREICH ATAXIA

Authors: PANDOLFO M MONTERMINI L COVA L JIRALERSPONG S

Citation: M. Pandolfo et al., IRON, OXIDATIVE STRESS AND FRIEDREICH ATAXIA, Neurology, 50(4), 1998, pp. 53003-53003

INHIBITORY EFFECTS OF EXPANDED GAA-CENTER-DOT-TTC TRIPLET REPEATS FROM INTRON-I OF THE FRIEDREICH ATAXIA GENE ON TRANSCRIPTION AND REPLICATION IN-VIVO

Authors: OHSHIMA K MONTERMINI L WELLS RD PANDOLFO M

Citation: K. Ohshima et al., INHIBITORY EFFECTS OF EXPANDED GAA-CENTER-DOT-TTC TRIPLET REPEATS FROM INTRON-I OF THE FRIEDREICH ATAXIA GENE ON TRANSCRIPTION AND REPLICATION IN-VIVO, The Journal of biological chemistry, 273(23), 1998, pp. 14588-14595

EXPRESSION OF BOVINE LEUKEMIA-VIRUS ENV GLYCOPROTEIN IN INSECT CELLS BY RECOMBINANT BACULOVIRUS

Authors: RUSSO S MONTERMINI L BERKOVITZSIMANTOV R PONTI W POLI G

Citation: S. Russo et al., EXPRESSION OF BOVINE LEUKEMIA-VIRUS ENV GLYCOPROTEIN IN INSECT CELLS BY RECOMBINANT BACULOVIRUS, FEBS letters, 436(1), 1998, pp. 11-16

FRATAXIN FRACAS

Authors: COSSEE M CAMPUZANO V KOUTNIKOVA H FISCHBECK K MANDEL JL KOENIG M BIDICHANDANI SI PATEL PI MOLTE MD CANIZARES J DEFRUTOS R PIANESE L CAVALCANTI F MONTICELLI A COCOZZA S MONTERMINI L PANDOLFO M

Citation: M. Cossee et al., FRATAXIN FRACAS, Nature genetics, 15(4), 1997, pp. 337-338

FRATAXIN SHOWS DEVELOPMENTALLY-REGULATED TISSUE-SPECIFIC EXPRESSION IN THE MOUSE EMBRYO

Authors: JIRALERSPONG S LIU YL MONTERMINI L STIFANI S PANDOLFO M

Citation: S. Jiralerspong et al., FRATAXIN SHOWS DEVELOPMENTALLY-REGULATED TISSUE-SPECIFIC EXPRESSION IN THE MOUSE EMBRYO, Neurobiology of disease, 4(2), 1997, pp. 103-113

THE FRIEDREICH ATAXIA GAA TRIPLET REPEAT - PREMUTATION AND NORMAL ALLELES

Authors: MONTERMINI L ANDERMANN E LABUDA M RICHTER A PANDOLFO M CAVALCANTI F PIANESE L IODICE L FARINA G MONTICELLI A TURANO M FILLA A DEMICHELE G COCOZZA S

Citation: L. Montermini et al., THE FRIEDREICH ATAXIA GAA TRIPLET REPEAT - PREMUTATION AND NORMAL ALLELES, Human molecular genetics, 6(8), 1997, pp. 1261-1266

FRATAXIN IS REDUCED IN FRIEDREICH-ATAXIA PATIENTS AND IS ASSOCIATED WITH MITOCHONDRIAL-MEMBRANES

Authors: CAMPUZANO V MONTERMINI L LUTZ Y COVA L HINDELANG C JIRALERSPONG S TROTTIER Y KISH SJ FAUCHEUX B TROUILLAS P AUTHIER FJ DURR A MANDEL JL VESCOVI A PANDOLFO M KOENIG M

Citation: V. Campuzano et al., FRATAXIN IS REDUCED IN FRIEDREICH-ATAXIA PATIENTS AND IS ASSOCIATED WITH MITOCHONDRIAL-MEMBRANES, Human molecular genetics, 6(11), 1997, pp. 1771-1780

CHARACTERIZATION OF YFH1, A YEAST GENE THAT REGULATES MITOCHONDRIAL IRON ACCUMULATION AND IS HOMOLOGOUS TO THE FRIEDREICHS ATAXIA GENE

Authors: DESILVA D BABCOCK M OAKS R DAVISKAPLAN S JIRALERSPONG S MONTERMINI L PANDOLFO M KAPLAN J

Citation: D. Desilva et al., CHARACTERIZATION OF YFH1, A YEAST GENE THAT REGULATES MITOCHONDRIAL IRON ACCUMULATION AND IS HOMOLOGOUS TO THE FRIEDREICHS ATAXIA GENE, The FASEB journal, 11(9), 1997, pp. 1413-1413

PHENOTYPIC VARIABILITY IN FRIEDREICH-ATAXIA - ROLE OF THE ASSOCIATED GAA TRIPLET REPEAT EXPANSION

Authors: MONTERMINI L RICHTER A MORGAN K JUSTICE CM JULIEN D CASTELLOTTI B MERCIER J POIRIER J CAPOZZOLI F BOUCHARD JP LEMIEUX B MATHIEU J VANASSE M SENI MH GRAHAM G ANDERMANN F ANDERMANN E MELANCON SB KEATS BJB DIDONATO S PANDOLFO M

Citation: L. Montermini et al., PHENOTYPIC VARIABILITY IN FRIEDREICH-ATAXIA - ROLE OF THE ASSOCIATED GAA TRIPLET REPEAT EXPANSION, Annals of neurology, 41(5), 1997, pp. 675-682

REGULATION OF MITOCHONDRIAL IRON ACCUMULATION BY YFH1P, A PUTATIVE HOMOLOG OF FRATAXIN

Authors: BABCOCK M DESILVA D OAKS R DAVISKAPLAN S JIRALERSPONG S MONTERMINI L PANDOLFO M KAPLAN J

Citation: M. Babcock et al., REGULATION OF MITOCHONDRIAL IRON ACCUMULATION BY YFH1P, A PUTATIVE HOMOLOG OF FRATAXIN, Science, 276(5319), 1997, pp. 1709-1712

FRIEDREICHS ATAXIA GAA REPEAT EXPANSION IN PATIENTS WITH RECESSIVE ORSPORADIC ATAXIA

Authors: GESCHWIND DH PERLMAN S GRODY WW TELATAR M MONTERMINI L PANDOLFO M GATTI RA

Citation: Dh. Geschwind et al., FRIEDREICHS ATAXIA GAA REPEAT EXPANSION IN PATIENTS WITH RECESSIVE ORSPORADIC ATAXIA, Neurology, 49(4), 1997, pp. 1004-1009

SOMATIC MOSAICISM FOR FRIEDREICHS ATAXIA GAA TRIPLET REPEAT EXPANSIONS IN THE CENTRAL-NERVOUS-SYSTEM

Authors: MONTERMINI L KISH SJ JIRALERSPONG S LAMARCHE JB PANDOLFO M

Citation: L. Montermini et al., SOMATIC MOSAICISM FOR FRIEDREICHS ATAXIA GAA TRIPLET REPEAT EXPANSIONS IN THE CENTRAL-NERVOUS-SYSTEM, Neurology, 49(2), 1997, pp. 606-610

THE EFFECT OF MOLECULAR TESTING ON THE DIAGNOSTIC-CRITERIA FOR FRIEDREICH ATAXIA

Authors: PANDOLFO M MONTERMINI L

Citation: M. Pandolfo et L. Montermini, THE EFFECT OF MOLECULAR TESTING ON THE DIAGNOSTIC-CRITERIA FOR FRIEDREICH ATAXIA, Neurology, 48(3), 1997, pp. 26006-26006

MOLECULAR ANALYSIS OF PATIENTS WITH FRIEDREICH ATAXIA PHENOTYPE NOT HOMOZYGOUS FOR THE GAA TRIPLET REPEAT EXPANSION

Authors: LABUDA M MONTERMINI L POIRIER J RICHTER A ANDERMANN E KISH S GESCHWIND D PANDOLFO M

Citation: M. Labuda et al., MOLECULAR ANALYSIS OF PATIENTS WITH FRIEDREICH ATAXIA PHENOTYPE NOT HOMOZYGOUS FOR THE GAA TRIPLET REPEAT EXPANSION, American journal of human genetics, 61(4), 1997, pp. 1825-1825

CLONING AND CHARACTERIZATION OF INTRONIC GAA-TTC TRIPLET REPEATS FROMFRIEDREICH ATAXIA

Authors: OHSHIMA K MONTERMINI L WELLS RD PANDOLFO M

Citation: K. Ohshima et al., CLONING AND CHARACTERIZATION OF INTRONIC GAA-TTC TRIPLET REPEATS FROMFRIEDREICH ATAXIA, American journal of human genetics, 61(4), 1997, pp. 1849-1849

EVIDENCE FOR A COMMON ORIGIN OF MOST FRIEDREICH ATAXIA CHROMOSOMES INTHE SPANISH POPULATION

Authors: MONROS E CANIZARES J MOLTO MD RODIUS F MONTERMINI L COSSEE M MARTINEZ F PRIETO F DEFRUTOS R KOENIG M PANDOLFO M BERTRANPETIT J PALAU F

Citation: E. Monros et al., EVIDENCE FOR A COMMON ORIGIN OF MOST FRIEDREICH ATAXIA CHROMOSOMES INTHE SPANISH POPULATION, European journal of human genetics, 4(4), 1996, pp. 191-198

FRIEDREICHS-ATAXIA - AUTOSOMAL RECESSIVE DISEASE CAUSED BY AN INTRONIC GAA TRIPLET REPEAT EXPANSION

Authors: CAMPUZANO V MONTERMINI L MOLTO MD PIANESE L COSSEE M CAVALCANTI F MONROS E RODIUS F DUCLOS F MONTICELLI A ZARA F CANIZARES J KOUTNIKOVA H BIDICHANDANI SI GELLERA C BRICE A TROUILLAS P DEMICHELE G FILLA A DEFRUTOS R PALAU F PATEL PI DIDONATO S MANDEL JL COCOZZA S KOENIG M PANDOLFO M

Citation: V. Campuzano et al., FRIEDREICHS-ATAXIA - AUTOSOMAL RECESSIVE DISEASE CAUSED BY AN INTRONIC GAA TRIPLET REPEAT EXPANSION, Science, 271(5254), 1996, pp. 1423-1427

FRIEDREICH ATAXIA - AUTOSOMAL RECESSIVE DISEASE CAUSED BY AN INTRONICGAA TRIPLET REPEAT EXPANSION

Authors: MONTERMINI L ZARA F BIDICHANDANI S PATEL PI PANDOLFO M CAMPUZANO V COSSEE M RODIUS F DUCLOS F KOUTNIKOVA H MANDEL JL KOENIG M PIANESE FL MONTICELLI A CAVALCANTI F COCOZZA S DEMICHELE G FILLA A BRICE A TROUILLAS P MONROS E PALAU F CANIZARES J DEFRUTOS R GELLERA C DIDONATO S

Citation: L. Montermini et al., FRIEDREICH ATAXIA - AUTOSOMAL RECESSIVE DISEASE CAUSED BY AN INTRONICGAA TRIPLET REPEAT EXPANSION, Neurology, 47(1), 1996, pp. 294-294

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

THE FRIEDREICH ATAXIA CRITICAL REGION SPANS A 150-KB INTERVAL ON CHROMOSOME 9Q13 (VOL 57, PG 1061, 1995)

Authors: MONTERMINI L WEHNERT M

Citation: L. Montermini et M. Wehnert, THE FRIEDREICH ATAXIA CRITICAL REGION SPANS A 150-KB INTERVAL ON CHROMOSOME 9Q13 (VOL 57, PG 1061, 1995), American journal of human genetics, 57(6), 1995, pp. 1520-1520

THE FRIEDREICH ATAXIA CRITICAL REGION SPANS A 150-KB INTERVAL ON CHROMOSOME 9Q13

Authors: MONTERMINI L RODIUS F PIANESE L MOLTO MD COSSEE M CAMPUZANO V CAVALCANTI F MONTICELLI A PALAU F GYAPAY G WENHERT M ZARA F PATEL PI COCOZZA S KOENIG M PANDOLFO M

Citation: L. Montermini et al., THE FRIEDREICH ATAXIA CRITICAL REGION SPANS A 150-KB INTERVAL ON CHROMOSOME 9Q13, American journal of human genetics, 57(5), 1995, pp. 1061-1067

MOLECULAR-GENETIC STUDIES OF FRIEDREICHS ATAXIA

Authors: MONTERMINI L MOLTO MD ZARA F PATEL PI PIANESE L CAVALCANTI F RODIUS F COCOZZA S KOENIG M PANDOLFO M

Citation: L. Montermini et al., MOLECULAR-GENETIC STUDIES OF FRIEDREICHS ATAXIA, American journal of human genetics, 57(4), 1995, pp. 1139-1139

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

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