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Results: 1-23 |
Results: 23
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
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
APOLIPOPROTEIN-E EPSILON-4 ALLELE AND FAMILIAL AGGREGATION OF ALZHEIMER-DISEASE
Authors: MARTINEZ M CAMPION D BRICE A HANNEQUIN D DUBOIS B DIDIERJEAN O MICHON A THOMASANTERION C PUEL M FREBOURG T AGID Y CLERGETDARPOUX F
Citation: M. Martinez et al., APOLIPOPROTEIN-E EPSILON-4 ALLELE AND FAMILIAL AGGREGATION OF ALZHEIMER-DISEASE, Archives of neurology, 55(6), 1998, pp. 810-816
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
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
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
APOLIPOPROTEIN-E GENOTYPE IN FAMILIAL PARKINSONS-DISEASE
Authors: DURR A MEDJBEUR S DIDIERJEAN O VIDAILHET M BONNET AM GRID D PENET C BRICE A AGID Y MARTINEZ M FEINGOLD J AMOUYEL P BORG M BROUSSOLLE E DESTEE A DURIF F FENELON G FEVE JR POLLAK P RASCOL O TISON F TRANCHANT C WARTER JM VERIN M VIALLET F
Citation: A. Durr et al., APOLIPOPROTEIN-E GENOTYPE IN FAMILIAL PARKINSONS-DISEASE, Journal of Neurology, Neurosurgery and Psychiatry, 63(3), 1997, pp. 394-395
NO EFFECT OF THE ALPHA-1-ANTICHYMOTRYPSIN-A ALLELE IN ALZHEIMERS-DISEASE
Authors: DIDIERJEAN O MARTINEZ M CAMPION D HANNEQUIN D DUBOIS B MARTIN C PUEL M ANTERION CT PASQUIER F MOREAU O BABRON MC PENET C AGID Y CLERGETDARPOUX F FREBOURG T BRICE A
Citation: O. Didierjean et al., NO EFFECT OF THE ALPHA-1-ANTICHYMOTRYPSIN-A ALLELE IN ALZHEIMERS-DISEASE, Journal of Neurology, Neurosurgery and Psychiatry, 63(1), 1997, pp. 103-105
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
APOLIPOPROTEIN-E AND ALZHEIMER-DISEASE - GENOTYPE-SPECIFIC RISKS BY AGE AND SEX
Authors: BICKEBOLLER H CAMPION D BRICE A AMOUYEL P HANNEQUIN D DIDIERJEAN O PENET C MARTIN C PEREZTUR J MICHON A DUBOIS B LEDOZE F THOMASANTERION C PASQUIER F PUEL M DEMONET JF MOREAUD O BABRON MC MEULIEN D GUEZ D CHARTIERHARLIN MC FREBOURG T AGID Y MARTINEZ M CLERGETDARPOUX F
Citation: H. Bickeboller et al., APOLIPOPROTEIN-E AND ALZHEIMER-DISEASE - GENOTYPE-SPECIFIC RISKS BY AGE AND SEX, American journal of human genetics, 60(2), 1997, pp. 439-446
AUTOSOMAL-DOMINANT CEREBELLAR-ATAXIA TYPE-I IN MOROCCO - PRESENCE OF THE SCAI AND SCA3 MJD MUTATIONS/
Authors: BENOMAR A MEGGOUH F DIDIERJEAN O KISSANI N DURR A SEFIANI A CHKILI T AGID Y YAHYAOUI M BRICE A
Citation: A. Benomar et al., AUTOSOMAL-DOMINANT CEREBELLAR-ATAXIA TYPE-I IN MOROCCO - PRESENCE OF THE SCAI AND SCA3 MJD MUTATIONS/, European journal of neurology, 3(4), 1996, pp. 369-372
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
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
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
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
APOLIPOPROTEIN-E GENOTYPE DOES NOT AFFECT AGE AT ONSET IN PATIENTS WITH CHROMOSOME-14 ENCODED ALZHEIMERS-DISEASE
Authors: BRICE A TARDIEU S DIDIERJEAN O LEGUERN E MICHON A PILLON B HAHN V DUBOIS B PENET C AGID Y CAMPION D MARTINEZ M BABRON MC CLERGETDARPOUX F BELLIS M CALANDA A HEILIG R WEISSENBACH J MALLET J FREBOURG T HANNEQUIN D PUEL M LEDOZE F PASQUIER F ZIMMERMANN MA THOMASANTERION C MOREAU O
Citation: A. Brice et al., APOLIPOPROTEIN-E GENOTYPE DOES NOT AFFECT AGE AT ONSET IN PATIENTS WITH CHROMOSOME-14 ENCODED ALZHEIMERS-DISEASE, Journal of Medical Genetics, 33(2), 1996, pp. 174-175
AUTOSOMAL-DOMINANT CEREBELLAR-ATAXIA TYPE-I - CLINICAL-FEATURES AND MRT IN FAMILIES WITH SCA1, SCA2 AND SCA3
Authors: BURK K ABELE M FETTER M DICHGANS J SKALEJ M LACCONE F DIDIERJEAN O BRICE A KLOCKGETHER T
Citation: K. Burk et al., AUTOSOMAL-DOMINANT CEREBELLAR-ATAXIA TYPE-I - CLINICAL-FEATURES AND MRT IN FAMILIES WITH SCA1, SCA2 AND SCA3, Brain, 119, 1996, pp. 1497-1505
MUTATIONS OF THE PRESENILIN-I GENE IN FAMILIES WITH EARLY-ONSET ALZHEIMERS-DISEASE
Authors: CAMPION D FLAMAN JM BRICE A HANNEQUIN D DUBOIS B MARTIN C MOREAU V CHARBONNIER F DIDIERJEAN O TARDIEU S PENET C PUEL M PASQUIER F LEDOZE F BELLIS G CALENDA A HEILIG R MARTINEZ M MALLET J BELLIS M CLERGETDARPOUX F AGID Y FREBOURG T
Citation: D. Campion et al., MUTATIONS OF THE PRESENILIN-I GENE IN FAMILIES WITH EARLY-ONSET ALZHEIMERS-DISEASE, Human molecular genetics, 4(12), 1995, pp. 2373-2377
LINKAGE DISEQUILIBRIUM AT THE MACHADO-JOSEPH-DISEASE SPINAL CEREBELLAR-ATAXIA-3 LOCUS - EVIDENCE FOR A COMMON FOUNDER EFFECT IN FRENCH AND PORTUGUESE-BRAZILIAN FAMILIES AS WELL AS A 2ND ANCESTRAL PORTUGUESE-AZOREAN MUTATION
Authors: STEVANIN G CANCEL G DIDIERJEAN O DURR A ABBAS N CASSA E FEINGOLD J AGID Y BRICE A
Citation: G. Stevanin et al., LINKAGE DISEQUILIBRIUM AT THE MACHADO-JOSEPH-DISEASE SPINAL CEREBELLAR-ATAXIA-3 LOCUS - EVIDENCE FOR A COMMON FOUNDER EFFECT IN FRENCH AND PORTUGUESE-BRAZILIAN FAMILIES AS WELL AS A 2ND ANCESTRAL PORTUGUESE-AZOREAN MUTATION, American journal of human genetics, 57(5), 1995, pp. 1247-1250
SCREENING FOR SCA3 MJD MUTATION IN 124 FAMILIES WITH DOMINANT ATAXIA - CLINICAL AND MOLECULAR CORRELATIONS/
Authors: BRICE A STEVANIN G DURR A CANCEL G ABBAS N CHNEIWEISS H DIDIERJEAN O CASSA E AGID Y
Citation: A. Brice et al., SCREENING FOR SCA3 MJD MUTATION IN 124 FAMILIES WITH DOMINANT ATAXIA - CLINICAL AND MOLECULAR CORRELATIONS/, American journal of human genetics, 57(4), 1995, pp. 1200-1200
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