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Results: 1-25 | 26-28
Results: 1-25/28
AN ISOFORM OF ATAXIN-3 ACCUMULATES IN THE NUCLEUS OF NEURONAL CELLS IN AFFECTED BRAIN-REGIONS OF SCA3 PATIENTS
Authors: SCHMIDT T LANDWEHRMEYER GB SCHMITT I TROTTIER Y AUBURGER G LACCONE F KLOCKGETHER T VOLPEL M EPPLEN JT SCHOLS L RIESS O
Citation: T. Schmidt et al., AN ISOFORM OF ATAXIN-3 ACCUMULATES IN THE NUCLEUS OF NEURONAL CELLS IN AFFECTED BRAIN-REGIONS OF SCA3 PATIENTS, Brain pathology, 8(4), 1998, pp. 669-679
SPINOCEREBELLAR ATAXIA TYPE-7 (SCA7) - A NEURODEGENERATIVE DISORDER WITH NEURONAL INTRANUCLEAR INCLUSIONS
Authors: HOLMBERG M DUYCKAERTS C DURR A CANCEL G GOURFINKELAN I DAMIER P FAUCHEUX B TROTTIER Y HIRSCH EC AGID Y BRICE A
Citation: M. Holmberg et al., SPINOCEREBELLAR ATAXIA TYPE-7 (SCA7) - A NEURODEGENERATIVE DISORDER WITH NEURONAL INTRANUCLEAR INCLUSIONS, Human molecular genetics, 7(5), 1998, pp. 913-918
NEURONAL DISTRIBUTION OF INTRANUCLEAR INCLUSIONS IN HUNTINGTONS-DISEASE WITH ADULT-ONSET
Authors: GOURFINKELAN I CANCEL G DUYCKAERTS C FAUCHEUX B HAUW JJ TROTTIER Y BRICE A AGID Y HIRSCH EC
Citation: I. Gourfinkelan et al., NEURONAL DISTRIBUTION OF INTRANUCLEAR INCLUSIONS IN HUNTINGTONS-DISEASE WITH ADULT-ONSET, NeuroReport, 9(8), 1998, pp. 1823-1826
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
INTRANUCLEAR INCLUSIONS OF EXPANDED POLYGLUTAMINE PROTEIN IN SPINOCEREBELLAR ATAXIA TYPE-3
Authors: PAULSON HL PEREZ MK TROTTIER Y TROJANOWSKI JQ SUBRAMONY SH DAS SS VIG P MANDEL JL FISCHBECK KH PITTMAN RN
Citation: Hl. Paulson et al., INTRANUCLEAR INCLUSIONS OF EXPANDED POLYGLUTAMINE PROTEIN IN SPINOCEREBELLAR ATAXIA TYPE-3, Neuron, 19(2), 1997, pp. 333-344
DIFFERENTIAL DISTRIBUTION OF THE NORMAL AND MUTATED FORMS OF HUNTINGTIN IN THE HUMAN BRAIN
Authors: GOURFINKELAN I CANCEL G TROTTIER Y DEVYS D TORA L LUTZ Y IMBERT G SAUDOU F STEVANIN G AGID Y BRICE A MANDEL JL HIRSCH EC
Citation: I. Gourfinkelan et al., DIFFERENTIAL DISTRIBUTION OF THE NORMAL AND MUTATED FORMS OF HUNTINGTIN IN THE HUMAN BRAIN, Annals of neurology, 42(5), 1997, pp. 712-719
CLINICAL AND GENETIC-ANALYSIS OF 3 GERMAN KINDREDS WITH AUTOSOMAL-DOMINANT CEREBELLAR-ATAXIA TYPE-I LINKED TO THE SCA2 LOCUS
Authors: BURK K STEVANIN G DIDIERJEAN O CANCEL G TROTTIER Y SKALEJ M ABELE M BRICE A DICHGANS J KLOCKGETHER T
Citation: K. Burk et al., CLINICAL AND GENETIC-ANALYSIS OF 3 GERMAN KINDREDS WITH AUTOSOMAL-DOMINANT CEREBELLAR-ATAXIA TYPE-I LINKED TO THE SCA2 LOCUS, Journal of neurology, 244(4), 1997, pp. 256-261
A PRELIMINARY-STUDY ON EARLY-ONSET SCHIZOPHRENIA AND BIPOLAR DISORDER- LARGE POLYGLUTAMINE EXPANSIONS ARE NOT INVOLVED
Authors: SCHURHOFF F STEVANIN G TROTTIER Y BELLIVIER F MOURENSIMEONI MC BRICE A LEBOYER M
Citation: F. Schurhoff et al., A PRELIMINARY-STUDY ON EARLY-ONSET SCHIZOPHRENIA AND BIPOLAR DISORDER- LARGE POLYGLUTAMINE EXPANSIONS ARE NOT INVOLVED, Psychiatry research, 72(2), 1997, pp. 141-144
ANTICIPATION AND POLYGLUTAMINE EXPANSION DETECTION IN SCHIZOPHRENIA
Authors: LAURENT C TROTTIER Y THIBAUT F CHAVAND O BONNETBRILHAULT F CAMPION D SAMOLYK D PETIT M JAY M MANDEL ML FAUCONBIGUET N MALLET J
Citation: C. Laurent et al., ANTICIPATION AND POLYGLUTAMINE EXPANSION DETECTION IN SCHIZOPHRENIA, American journal of medical genetics, 74(6), 1997, pp. 610-610
THE DISEASE PROTEIN ATAXIN-3 FORMS INTRANUCLEAR AGGREGATES IN THE CAGPOLYGLUTAMINE DISORDER SPINOCEREBELLAR ATAXIA TYPE-3/
Authors: PEREZ MK PITTMAN RN TROJANOWSKI JQ SUBRAMONY SH FRATKIN J TROTTIER Y MANDEL JL PAULSON HL
Citation: Mk. Perez et al., THE DISEASE PROTEIN ATAXIN-3 FORMS INTRANUCLEAR AGGREGATES IN THE CAGPOLYGLUTAMINE DISORDER SPINOCEREBELLAR ATAXIA TYPE-3/, American journal of human genetics, 61(4), 1997, pp. 9-9
PHENOTYPE OF TRANSGENIC MICE EXPRESSING TRUNCATED PROTEIN WITH AN EXPANDED GLUTAMINE REPEAT OF THE HUNTINGTONS-DISEASE CDNA
Authors: SCHILLING G BORCHELT DR RATOVITSKI T SHARP AH COOPER JK COLEMAN JW DUAN K COPELAND N JENKINS NA TROTTIER Y MANDEL JL BECHER M PRICE DL ROSS CA
Citation: G. Schilling et al., PHENOTYPE OF TRANSGENIC MICE EXPRESSING TRUNCATED PROTEIN WITH AN EXPANDED GLUTAMINE REPEAT OF THE HUNTINGTONS-DISEASE CDNA, American journal of human genetics, 61(4), 1997, pp. 1870-1870
LINKAGE DISEQUILIBRIUM BETWEEN THE SPINOCEREBELLAR ATAXIA-3 MACHADO-JOSEPH-DISEASE MUTATION AND 2 INTRAGENIC POLYMORPHISMS, ONE OF WHICH, X359Y, AFFECTS THE STOP CODON
Authors: STEVANIN G LEBRE AS MATHIEUX C CANCEL G ABBAS N DIDIERJEAN O DURR A TROTTIER Y AGID Y BRICE A
Citation: G. Stevanin et al., LINKAGE DISEQUILIBRIUM BETWEEN THE SPINOCEREBELLAR ATAXIA-3 MACHADO-JOSEPH-DISEASE MUTATION AND 2 INTRAGENIC POLYMORPHISMS, ONE OF WHICH, X359Y, AFFECTS THE STOP CODON, American journal of human genetics, 60(6), 1997, pp. 1548-1552
CLONING OF THE GENE FOR SPINOCEREBELLAR ATAXIA-2 REVEALS A LOCUS WITHHIGH-SENSITIVITY TO EXPANDED CAG GLUTAMINE REPEATS/
Authors: IMBERT G SAUDOU F YVERT G DEVYS D TROTTIER Y GARNIER JM WEBER C MANDEL JL CANCEL G ABBAS N DURR A DIDIERJEAN O STEVANIN G AGID Y BRICE A
Citation: G. Imbert et al., CLONING OF THE GENE FOR SPINOCEREBELLAR ATAXIA-2 REVEALS A LOCUS WITHHIGH-SENSITIVITY TO EXPANDED CAG GLUTAMINE REPEATS/, Nature genetics, 14(3), 1996, pp. 285-291
AN EXPANDED CAG REPEAT SEQUENCE IN SPINOCEREBELLAR ATAXIA TYPE-7
Authors: LINDBLAD K SAVONTAUS ML STEVANIN G HOLMBERG M DIGRE K ZANDER C EHRSSON H DAVID G BENOMAR A NIKOSKELAINEN E TROTTIER Y HOLMGREN G PTACEK LJ ANTTINEN A BRICE A SCHALLING M
Citation: K. Lindblad et al., AN EXPANDED CAG REPEAT SEQUENCE IN SPINOCEREBELLAR ATAXIA TYPE-7, PCR methods and applications, 6(10), 1996, pp. 965-971
SCREENING FOR PROTEINS WITH POLYGLUTAMINE EXPANSIONS IN AUTOSOMAL-DOMINANT CEREBELLAR ATAXIAS
Authors: STEVANIN G TROTTIER Y CANCEL G DURR A DAVID G DIDIERJEAN O BURK K IMBERT G SAUDOU F ABADABENDIB M GOURFINKELAN I BENOMAR A ABBAS N KLOCKGETHER T GRID D AGID Y MANDEL JL BRICE A
Citation: G. Stevanin et al., SCREENING FOR PROTEINS WITH POLYGLUTAMINE EXPANSIONS IN AUTOSOMAL-DOMINANT CEREBELLAR ATAXIAS, Human molecular genetics, 5(12), 1996, pp. 1887-1892
EXON-1 OF THE HD GENE WITH AN EXPANDED CAG REPEAT IS SUFFICIENT TO CAUSE A PROGRESSIVE NEUROLOGICAL PHENOTYPE IN TRANSGENIC MICE
Authors: MANGIARINI L SATHASIVAM K SELLER M COZENS B HARPER A HETHERINGTON C LAWTON M TROTTIER Y LEHRACH H DAVIES SW BATES GP
Citation: L. Mangiarini et al., EXON-1 OF THE HD GENE WITH AN EXPANDED CAG REPEAT IS SUFFICIENT TO CAUSE A PROGRESSIVE NEUROLOGICAL PHENOTYPE IN TRANSGENIC MICE, Cell, 87(3), 1996, pp. 493-506
POLYGLUTAMINE EXPANSIONS AND NEURODEGENERATIVE DISEASES
Authors: SAUDOU F DEVYS D TROTTIER Y IMBERT G STOECKEL ME BRICE A MANDEL JL
Citation: F. Saudou et al., POLYGLUTAMINE EXPANSIONS AND NEURODEGENERATIVE DISEASES, Cold Spring Harbor Symposia on Quantitative Biology, 61, 1996, pp. 639-647
PHENOTYPIC CHARACTERIZATION OF INDIVIDUALS WITH 30-40 CAG REPEATS IN THE HUNTINGTON DISEASE (HD) GENE REVEALS HD CASES WITH 36 REPEATS AND APPARENTLY NORMAL ELDERLY INDIVIDUALS WITH 36-39 REPEATS
Authors: RUBINSZTEIN DC LEGGO J COLES R ALMQVIST E BIANCALANA V CASSIMAN JJ CHOTAI K CONNARTY M CRAUFURD D CURTIS A CURTIS D DAVIDSON MJ DIFFER AM DODE C DODGE A FRONTALI M RANEN NG STINE OC SHERR M ABBOTT MH FRANZ ML GRAHAM CA HARPER PS HEDREEN JC JACKSON A KAPLAN JC LOSEKOOT M MACMILLAN JC MORRISON P TROTTIER Y NOVELLETTO A SIMPSON SA THEILMANN J WHITTAKER JL FOLSTEIN SE ROSS CA HAYDEN MR
Citation: Dc. Rubinsztein et al., PHENOTYPIC CHARACTERIZATION OF INDIVIDUALS WITH 30-40 CAG REPEATS IN THE HUNTINGTON DISEASE (HD) GENE REVEALS HD CASES WITH 36 REPEATS AND APPARENTLY NORMAL ELDERLY INDIVIDUALS WITH 36-39 REPEATS, American journal of human genetics, 59(1), 1996, pp. 16-22
CELLULAR-LOCALIZATION OF THE HUNTINGTONS-DISEASE PROTEIN AND DISCRIMINATION OF THE NORMAL AND MUTATED FORM
Authors: TROTTIER Y DEVYS D IMBERT G SAUDOU F AN I LUTZ Y WEBER C AGID Y HIRSCH EC MANDEL JL
Citation: Y. Trottier et al., CELLULAR-LOCALIZATION OF THE HUNTINGTONS-DISEASE PROTEIN AND DISCRIMINATION OF THE NORMAL AND MUTATED FORM, Nature genetics, 10(1), 1995, pp. 104-110
POLYGLUTAMINE EXPANSION AS A PATHOLOGICAL EPITOPE IN HUNTINGTONS-DISEASE AND 4 DOMINANT CEREBELLAR ATAXIAS
Authors: TROTTIER Y LUTZ Y STEVANIN G IMBERT G DEVYS D CANCEL G SAUDOU F WEBER C DAVID G TORA L AGID Y BRICE A MANDEL JL
Citation: Y. Trottier et al., POLYGLUTAMINE EXPANSION AS A PATHOLOGICAL EPITOPE IN HUNTINGTONS-DISEASE AND 4 DOMINANT CEREBELLAR ATAXIAS, Nature, 378(6555), 1995, pp. 403-406
TRANSGENIC MICE AND NEUROBLASTOMA CELL-LINES CARRYING THE MUTATED HUNTINGTONS-DISEASE CDNA
Authors: IMBERT G SAUDOU F DEVYS D TROTTIER Y WEBER C LEMEUR M MANDEL JL
Citation: G. Imbert et al., TRANSGENIC MICE AND NEUROBLASTOMA CELL-LINES CARRYING THE MUTATED HUNTINGTONS-DISEASE CDNA, American journal of human genetics, 57(4), 1995, pp. 1403-1403
RAT-LIVER CYTOCHROME-P450 2B3 - STRUCTURE OF THE CYP2B3 GENE AND IMMUNOLOGICAL IDENTIFICATION OF A CONSTITUTIVE P450 2B3-LIKE PROTEIN IN RAT-LIVER
Authors: JEAN A REISS A DESROCHERS M DUBOIS S TROTTIER E TROTTIER Y WIRTANEN L ADESNIK M WAXMAN DJ ANDERSON A
Citation: A. Jean et al., RAT-LIVER CYTOCHROME-P450 2B3 - STRUCTURE OF THE CYP2B3 GENE AND IMMUNOLOGICAL IDENTIFICATION OF A CONSTITUTIVE P450 2B3-LIKE PROTEIN IN RAT-LIVER, DNA and cell biology, 13(8), 1994, pp. 781-792
THE GENE FOR THE TATA-BINDING PROTEIN (TBP) THAT CONTAINS A HIGHLY POLYMORPHIC PROTEIN-CODING CAG REPEAT MAPS TO 6Q27
Authors: IMBERT G TROTTIER Y BECKMANN J MANDEL JL
Citation: G. Imbert et al., THE GENE FOR THE TATA-BINDING PROTEIN (TBP) THAT CONTAINS A HIGHLY POLYMORPHIC PROTEIN-CODING CAG REPEAT MAPS TO 6Q27, Genomics, 21(3), 1994, pp. 667-668
A COMPARISON STUDY OF THE MODIFIED 1-2 TEST AND THE HPB STANDARD METHOD IN THE ISOLATION OF SALMONELLA
Authors: WARBURTON DW OGGEL J BOWEN B CRAWFORD C DURZI S GIBSON E FOSTER R FOX C GOUR L KROHN G MCDONAH S MACKENZIE J TODD ECD SHAW S TIWARI NP TROTTIER Y WHEELER BD
Citation: Dw. Warburton et al., A COMPARISON STUDY OF THE MODIFIED 1-2 TEST AND THE HPB STANDARD METHOD IN THE ISOLATION OF SALMONELLA, Food microbiology, 11(3), 1994, pp. 253-263
A COMPARISON OF 6 DIFFERENT PLATING MEDIA USED IN THE ISOLATION OF SALMONELLA
Authors: WARBURTON DW BOWEN B KONKLE A CRAWFORD C DURZI S FOSTER R FOX C GOUR L KROHN G LACASSE P LAMONTAGNE G MCDONAGH S ARLING V MACKENZIE J TODD ECD OGGEL J PLANTE R SHAW S TIWARI NP TROTTIER Y WHEELER BD
Citation: Dw. Warburton et al., A COMPARISON OF 6 DIFFERENT PLATING MEDIA USED IN THE ISOLATION OF SALMONELLA, International journal of food microbiology, 22(4), 1994, pp. 277-289
Risultati: 1-25 | 26-28