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Results: 1-25 | 26-48
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SOMATIC MOSAICISM OF THE CAG REPEAT EXPANSION IN SPINOCEREBELLAR ATAXIA TYPE-3 MACHADO-JOSEPH-DISEASE
Authors: CANCEL G GOURFINKELAN I STEVANIN G DIDIERJEAN O ABBAS N HIRSCH E AGID Y BRICE A
Citation: G. Cancel et al., SOMATIC MOSAICISM OF THE CAG REPEAT EXPANSION IN SPINOCEREBELLAR ATAXIA TYPE-3 MACHADO-JOSEPH-DISEASE, Human mutation, 11(1), 1998, pp. 23-27
SOMATIC MOSAICISM OF THE CAG REPEAT EXPANSION IN SPINOCEREBELLAR ATAXIA TYPE-3 MACHADO-JOSEPH-DISEASE
Authors: CANCEL G GOURFINKELAN I STEVANIN G DIDIERJEAN O ABBAS N HIRSCH E AGID Y BRICE A
Citation: G. Cancel et al., SOMATIC MOSAICISM OF THE CAG REPEAT EXPANSION IN SPINOCEREBELLAR ATAXIA TYPE-3 MACHADO-JOSEPH-DISEASE, Human mutation, 11(1), 1998, pp. 23-27
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
MOLECULAR AND CLINICAL CORRELATIONS IN AUTOSOMAL-DOMINANT CEREBELLAR-ATAXIA WITH PROGRESSIVE MACULAR DYSTROPHY (SCA7)
Authors: DAVID G DURR A STEVANIN G CANCEL G ABBAS N BENOMAR A BELAL S LEBRE AS ABADABENDIB M GRID D HOLMBERG M YAHYAOUI M HENTATI F CHKILI T AGID Y BRICE A
Citation: G. David et al., MOLECULAR AND CLINICAL CORRELATIONS IN AUTOSOMAL-DOMINANT CEREBELLAR-ATAXIA WITH PROGRESSIVE MACULAR DYSTROPHY (SCA7), Human molecular genetics, 7(2), 1998, pp. 165-170
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
A NOVEL LONG AND UNSTABLE CAG CTG TRINUCLEOTIDE REPEAT ON CHROMOSOME 17Q/
Authors: IKEUCHI T SANPEI K TAKANO H SASAKI H TASHIRO K CANCEL G BRICE A BIRD TD SCHELLENBERG GD PERICAKVANCE MA WELSHBOHMER KA CLARK LN WILHELMSEN K TSUJI S
Citation: T. Ikeuchi et al., A NOVEL LONG AND UNSTABLE CAG CTG TRINUCLEOTIDE REPEAT ON CHROMOSOME 17Q/, Genomics, 49(2), 1998, pp. 321-326
EYE-MOVEMENT ABNORMALITIES CORRELATE WITH GENOTYPE IN AUTOSOMAL-DOMINANT CEREBELLAR-ATAXIA TYPE-I
Authors: RIVAUDPECHOUX S DURR A GAYMARD B CANCEL G PLONER CJ AGID Y BRICE A PIERROTDESEILLIGNY C
Citation: S. Rivaudpechoux et al., EYE-MOVEMENT ABNORMALITIES CORRELATE WITH GENOTYPE IN AUTOSOMAL-DOMINANT CEREBELLAR-ATAXIA TYPE-I, Annals of neurology, 43(3), 1998, pp. 297-302
FEATURES OF AUTOSOMAL-DOMINANT CEREBELLAR ATAXIAS WITH CAG REPEAT EXPANSIONS
Authors: DURR A CANCEL G STEVANIN G DAVID G DIDIERJEAN O BRICE A
Citation: A. Durr et al., FEATURES OF AUTOSOMAL-DOMINANT CEREBELLAR ATAXIAS WITH CAG REPEAT EXPANSIONS, Neurology, 50(4), 1998, pp. 31002-31002
CLOSE ASSOCIATIONS BETWEEN PREVALENCES OF DOMINANTLY INHERITED SPINOCEREBELLAR ATAXIAS WITH CAG-REPEAT EXPANSIONS AND FREQUENCIES OF LARGE NORMAL CAG ALLELES IN JAPANESE AND CAUCASIAN POPULATIONS
Authors: TAKANO H CANCEL G IKEUCHI T LORENZETTI D MAWAD R STEVANIN G DIDIERJEAN O DURR A OYAKE M SHIMOHATA T SASAKI R KOIDE R IGARASHI S HAYASHI S TAKIYAMA Y NISHIZAWA M TANAKA H ZOGHBI H BRICE A TSUJI S
Citation: H. Takano et al., CLOSE ASSOCIATIONS BETWEEN PREVALENCES OF DOMINANTLY INHERITED SPINOCEREBELLAR ATAXIAS WITH CAG-REPEAT EXPANSIONS AND FREQUENCIES OF LARGE NORMAL CAG ALLELES IN JAPANESE AND CAUCASIAN POPULATIONS, American journal of human genetics, 63(4), 1998, pp. 1060-1066
CLONING OF THE SCA7 GENE REVEALS A HIGHLY UNSTABLE CAG REPEAT EXPANSION
Authors: DAVID G ABBAS N STEVANIN G DURR A YVERT G CANCEL G WEBER C IMBERT G SAUDOU F ANTONIOU E DRABKIN H GEMMILL R GIUNTI P BENOMAR A WOOD N RUBERG M AGID Y MANDEL JL BRICE A
Citation: G. David et al., CLONING OF THE SCA7 GENE REVEALS A HIGHLY UNSTABLE CAG REPEAT EXPANSION, Nature genetics, 17(1), 1997, pp. 65-70
MOLECULAR AND CLINICAL CORRELATIONS IN SPINOCEREBELLAR ATAXIA-2 - A STUDY OF 32 FAMILIES
Authors: CANCEL G DURR A DIDIERJEAN O IMBERT G BURK K LEZIN A BELAL S BENOMAR A ABADABENDIB M VIAL C GUIMARAES J CHNEIWEISS H STEVANIN G YVERT G ABBAS N SAUDOU F LEBRE AS YAHYAOUI M HENTATI F VERNANT JC KLOCKGETHER T MANDEL JL AGID Y BRICE A
Citation: G. Cancel et al., MOLECULAR AND CLINICAL CORRELATIONS IN SPINOCEREBELLAR ATAXIA-2 - A STUDY OF 32 FAMILIES, Human molecular genetics, 6(5), 1997, pp. 709-715
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
CLINICAL AND MOLECULAR-FEATURES OF SPINOCEREBELLAR ATAXIA TYPE-6
Authors: STEVANIN G DURR A DAVID G DIDIERJEAN O CANCEL G RIVAUD S TOURBAH A WARTER JM AGID Y BRICE A
Citation: G. Stevanin et al., CLINICAL AND MOLECULAR-FEATURES OF SPINOCEREBELLAR ATAXIA TYPE-6, Neurology, 49(5), 1997, pp. 1243-1246
SCA2 (SPINOCEREBELLAR-ATAXIA-2) - ANOTHER UNSTABLE CAG EXPANSION - MOLECULAR AND CLINICAL ANALYSIS OF 101 PATIENTS
Authors: BRICE A CANCEL G DURR A DIDIERJEAN O IMBERT G BURK K SAUDOU F YVERT G ABADA M BELAL S BENOMAR A KLOCKGETHER T MANDEL JL AGID Y
Citation: A. Brice et al., SCA2 (SPINOCEREBELLAR-ATAXIA-2) - ANOTHER UNSTABLE CAG EXPANSION - MOLECULAR AND CLINICAL ANALYSIS OF 101 PATIENTS, Neurology, 48(3), 1997, pp. 26003-26003
AUTOSOMAL-DOMINANT CEREBELLAR-ATAXIA TYPE-I - NERVE-CONDUCTION AND EVOKED-POTENTIAL STUDIES IN FAMILIES WITH SCA1, SCA2 AND SCA3
Authors: ABELE M BURK K ANDRES F TOPKA H LACCONE F BOSCH S BRICE A CANCEL G DICHGANS J KLOCKGETHER T
Citation: M. Abele et al., AUTOSOMAL-DOMINANT CEREBELLAR-ATAXIA TYPE-I - NERVE-CONDUCTION AND EVOKED-POTENTIAL STUDIES IN FAMILIES WITH SCA1, SCA2 AND SCA3, Brain, 120, 1997, pp. 2141-2148
PREVALENCE RATES OF DOMINANT SPINOCEREBELLAR ATAXIAS (SCAS) TIGHTLY CORRELATE WITH THE FREQUENCIES OF INTERMEDIATE ALLELES (AL) IN THE CORRESPONDING ETHNIC POPULATIONS
Authors: TAKANO H CANCEL G DURR A IKEUCHI T LORENZETTI D MAWAD R OYAKE M SASAKI R IGARASHI S HAYASHI S KOIDE R TAKIYAMA Y NISHIZAWA M TANAKA H ZOGHBI H BRICE A TSUJI ST
Citation: H. Takano et al., PREVALENCE RATES OF DOMINANT SPINOCEREBELLAR ATAXIAS (SCAS) TIGHTLY CORRELATE WITH THE FREQUENCIES OF INTERMEDIATE ALLELES (AL) IN THE CORRESPONDING ETHNIC POPULATIONS, American journal of human genetics, 61(4), 1997, pp. 1231-1231
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
INTERGENERATIONAL INSTABILITY OF THE CAG REPEAT OF THE GENE FOR MACHADO-JOSEPH DISEASE (MJD1) IS AFFECTED BY THE GENOTYPE OF THE NORMAL CHROMOSOME - IMPLICATIONS FOR THE MOLECULAR MECHANISMS OF THE INSTABILITYOF THE CAG REPEAT
Authors: IGARASHI S TAKIYAMA Y CANCEL G ROGAEVA EA SASAKI H WAKISAKA A ZHOU YX TAKANO H ENDO K SANPEI K OYAKE M TANAKA H STEVANIN G ABBAS N DURR A ROGAEV EI SHERRINGTON R TSUDA T IKEDA M CASSA E NISHIZAWA M BENOMAR A JULIEN J WEISSENBACH J WANG GX AGID Y STGEORGEHYSLOP PH BRICE A TSUJI S
Citation: S. Igarashi et al., INTERGENERATIONAL INSTABILITY OF THE CAG REPEAT OF THE GENE FOR MACHADO-JOSEPH DISEASE (MJD1) IS AFFECTED BY THE GENOTYPE OF THE NORMAL CHROMOSOME - IMPLICATIONS FOR THE MOLECULAR MECHANISMS OF THE INSTABILITYOF THE CAG REPEAT, Human molecular genetics, 5(7), 1996, pp. 923-932
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
LAST NEWS - NEURODEGENERATION CAUSED BY P OLYGLUTAMINE EXPANSION - THE 6TH GENE SCA2
Authors: IMBERT G SAUDOU F YVERT G MANDEL JL CANCEL G BRICE A
Citation: G. Imbert et al., LAST NEWS - NEURODEGENERATION CAUSED BY P OLYGLUTAMINE EXPANSION - THE 6TH GENE SCA2, MS. Medecine sciences, 12(12), 1996, pp. 1463-1465
SPINOCEREBELLAR ATAXIA-3 AND MACHADO-JOSEPH DISEASE - CLINICAL, MOLECULAR, AND NEUROPATHOLOGICAL FEATURES
Authors: DURR A STEVANIN G CANCEL G DUYCKAERTS C ABBAS N DIDIERJEAN O CHNEIWEISS H BENOMAR A LYONCAEN O JULIEN J SERDARU M PENET C AGID Y BRICE A
Citation: A. Durr et al., SPINOCEREBELLAR ATAXIA-3 AND MACHADO-JOSEPH DISEASE - CLINICAL, MOLECULAR, AND NEUROPATHOLOGICAL FEATURES, Annals of neurology, 39(4), 1996, pp. 490-499
AUTOSOMAL-DOMINANT CEREBELLAR-ATAXIA TYPE-I IN MARTINIQUE (FRENCH-WEST-INDIES) - GENETIC-ANALYSIS OF 3 UNRELATED SCA2 FAMILIES
Authors: LEZIN A CANCEL G STEVANIN G SMADJA D VERNANT JC DURR A MARTIAL J BUISSON GG BELLANCE R CHNEIWEISS H AGID Y BRICE A
Citation: A. Lezin et al., AUTOSOMAL-DOMINANT CEREBELLAR-ATAXIA TYPE-I IN MARTINIQUE (FRENCH-WEST-INDIES) - GENETIC-ANALYSIS OF 3 UNRELATED SCA2 FAMILIES, Human genetics, 97(5), 1996, pp. 671-676
THE CAG REPEAT DETERMINES THE CLINICAL AND NEUROPATHOLOGIC PHENOTYPE IN SPINOCEREBELLAR ATAXIA-3 MACHADO-JOSEPH-DISEASE
Authors: DURR A CANCEL G STEVANIN G DUYCKAERTS C DIDIERJEAN O ABBAS N AGID Y BRICE A
Citation: A. Durr et al., THE CAG REPEAT DETERMINES THE CLINICAL AND NEUROPATHOLOGIC PHENOTYPE IN SPINOCEREBELLAR ATAXIA-3 MACHADO-JOSEPH-DISEASE, Neurology, 46(2), 1996, pp. 30003-30003
Risultati: 1-25 | 26-48