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Results: 1-25/163
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
DYT1 MUTATION IN FRENCH FAMILIES WITH IDIOPATHIC TORSION DYSTONIA
Authors: LEBRE AS DURR A JEDYNAK P VIDAIHLET M AGID Y BRICE A
Citation: As. Lebre et al., DYT1 MUTATION IN FRENCH FAMILIES WITH IDIOPATHIC TORSION DYSTONIA, European journal of human genetics, 6, 1998, pp. 4182-4182
SEX-DEPENDENT REARRANGEMENTS RESULTING IN CMT1A AND HNPP
Authors: LOPES J RAVISE N VANDENEBRGHE A PALAU F IONASESCU V MAYER M LEVY N WOOD N TACHI N BOUCHE P LATOUR P RUBERG M BRICE A LEGUERN E
Citation: J. Lopes et al., SEX-DEPENDENT REARRANGEMENTS RESULTING IN CMT1A AND HNPP, European journal of human genetics, 6, 1998, pp. 4267-4267
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
SEQUENCING OF THE ALPHA-SYNUCLEIN GENE IN A LARGE SERIES OF CASES OF FAMILIAL PARKINSONS-DISEASE FAILS TO REVEAL ANY FURTHER MUTATIONS
Authors: VAUGHAN JR FARRER MJ WSZOLEK ZK GASSER T DURR A AGID Y BONIFATI V DEMICHELE G VOLPE G LINCOLN S BRETELER M MECO G BRICE A MARSDEN CD HARDY J WOOD NW
Citation: Jr. Vaughan et al., SEQUENCING OF THE ALPHA-SYNUCLEIN GENE IN A LARGE SERIES OF CASES OF FAMILIAL PARKINSONS-DISEASE FAILS TO REVEAL ANY FURTHER MUTATIONS, Human molecular genetics, 7(4), 1998, pp. 751-753
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
EXPANDED CAG REPEATS IN SWEDISH SPINOCEREBELLAR ATAXIA TYPE-7 (SCA7) PATIENTS - EFFECT OF CAG REPEAT LENGTH ON THE CLINICAL MANIFESTATION
Authors: JOHANSSON J FORSGREN L SANDGREN O BRICE A HOLMGREN G HOLMBERG M
Citation: J. Johansson et al., EXPANDED CAG REPEATS IN SWEDISH SPINOCEREBELLAR ATAXIA TYPE-7 (SCA7) PATIENTS - EFFECT OF CAG REPEAT LENGTH ON THE CLINICAL MANIFESTATION, Human molecular genetics, 7(2), 1998, pp. 171-176
DE-NOVO EXPANSION OF INTERMEDIATE ALLELES IN SPINOCEREBELLAR ATAXIA-7
Authors: STEVANIN G GIUNTI P DAVID G BELAL S DURR A RUBERG M WOOD N BRICE A
Citation: G. Stevanin et al., DE-NOVO EXPANSION OF INTERMEDIATE ALLELES IN SPINOCEREBELLAR ATAXIA-7, Human molecular genetics (Print), 7(11), 1998, pp. 1809-1813
SEGREGATION OF A MISSENSE MUTATION IN THE MICROTUBULE-ASSOCIATED PROTEIN-TAU GENE WITH FAMILIAL FRONTOTEMPORAL DEMENTIA AND PARKINSONISM
Authors: DUMANCHIN C CAMUZAT A CAMPION D VERPILLAT P HANNEQUIN D DUBOIS B SAUGIERVEBER P MARTIN C PENET C CHARBONNIER F AGID Y FREBOURG T BRICE A
Citation: C. Dumanchin et al., SEGREGATION OF A MISSENSE MUTATION IN THE MICROTUBULE-ASSOCIATED PROTEIN-TAU GENE WITH FAMILIAL FRONTOTEMPORAL DEMENTIA AND PARKINSONISM, Human molecular genetics (Print), 7(11), 1998, pp. 1825-1829
FINE MAPPING OF DE-NOVO CMT1A AND HNPP REARRANGEMENTS WITHIN CMT1A-REPS EVIDENCES 2 DISTINCT SEX-DEPENDENT MECHANISMS AND CANDIDATE SEQUENCES INVOLVED IN RECOMBINATION
Authors: LOPES J RAVISE N VANDENBERGHE A PALAU F IONASESCU V MAYER M LEVY N WOOD N TACHI N BOUCHE P LATOUR P RUBERG M BRICE A LEGUERN E
Citation: J. Lopes et al., FINE MAPPING OF DE-NOVO CMT1A AND HNPP REARRANGEMENTS WITHIN CMT1A-REPS EVIDENCES 2 DISTINCT SEX-DEPENDENT MECHANISMS AND CANDIDATE SEQUENCES INVOLVED IN RECOMBINATION, Human molecular genetics, 7(1), 1998, pp. 141-148
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
AUTOSOMAL-DOMINANT CEREBELLAR-ATAXIA WITH MACULAR DYSTROPHY (SCA7)
Authors: STEVANIN G DAVID G ABBAS N AGID Y BRICE A YVERT G
Citation: G. Stevanin et al., AUTOSOMAL-DOMINANT CEREBELLAR-ATAXIA WITH MACULAR DYSTROPHY (SCA7), MS. Medecine sciences, 14(6-7), 1998, pp. 758-763
THE ALPHA-SYNUCLEIN ALA53THR MUTATION IS NOT A COMMON-CAUSE OF FAMILIAL PARKINSONS-DISEASE - A STUDY OF 230 EUROPEAN CASES
Authors: VAUGHAN J DURR A TASSIN J BEREZNAI B GASSER T BONIFATI V DEMICHELE G FABRIZIO E VOLPE G BANDMANN O JOHNSON WG GOLBE LI BRETELER M MECO G AGID Y BRICE A MARSDEN CD WOOD NW
Citation: J. Vaughan et al., THE ALPHA-SYNUCLEIN ALA53THR MUTATION IS NOT A COMMON-CAUSE OF FAMILIAL PARKINSONS-DISEASE - A STUDY OF 230 EUROPEAN CASES, Annals of neurology, 44(2), 1998, pp. 270-273
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
UNSTABLE MUTATIONS AND NEURODEGENERATIVE DISORDERS
Authors: BRICE A
Citation: A. Brice, UNSTABLE MUTATIONS AND NEURODEGENERATIVE DISORDERS, Journal of neurology, 245(8), 1998, pp. 505-510
A GENOME-WIDE SEARCH FOR AUTISM SUSCEPTIBILITY GENES
Authors: PHILIPPE A GUILLOUDBATAILLE M MARTINEZ M BRICE A FEINGOLD J GILLBERG C LEBOYER M
Citation: A. Philippe et al., A GENOME-WIDE SEARCH FOR AUTISM SUSCEPTIBILITY GENES, American journal of medical genetics, 81(6), 1998, pp. 481-481
HOMOZYGOUS DELETIONS IN PARKIN GENE IN EUROPEAN AND NORTH-AFRICAN FAMILIES WITH AUTOSOMAL RECESSIVE JUVENILE PARKINSONISM
Authors: LUCKING CB ABBAS N DURR A BONIFATI V BONNET AM DEBROUCKER T DEMICHELE G WOOD NW AGID Y BRICE A
Citation: Cb. Lucking et al., HOMOZYGOUS DELETIONS IN PARKIN GENE IN EUROPEAN AND NORTH-AFRICAN FAMILIES WITH AUTOSOMAL RECESSIVE JUVENILE PARKINSONISM, Lancet, 352(9137), 1998, pp. 1355-1356
ALPHA-SYNUCLEIN GENE AND PARKINSONS-DISEASE
Authors: BRICE A
Citation: A. Brice, ALPHA-SYNUCLEIN GENE AND PARKINSONS-DISEASE, Science, 279(5354), 1998, pp. 1116-1117
GENETICS OF ALZHEIMERS-DISEASE
Authors: HANNEQUIN D CAMPION D DUMANCHIN C MARTINEZ M AGID Y CLERGETDARPOUX F FREBOURG T BRICE A
Citation: D. Hannequin et al., GENETICS OF ALZHEIMERS-DISEASE, Revue neurologique, 154, 1998, pp. 65-74
CHROMOSOME 6-LINKED AUTOSOMAL RECESSIVE JUVENILE PARKINSONISM IN NON-JAPANESE FAMILIES
Authors: BRICE A TASSIN J DEBROUCKER T ABBAS N BONNET AM VIDAILHET M VIALLET F MEDJBEUR S AGID Y DURR A
Citation: A. Brice et al., CHROMOSOME 6-LINKED AUTOSOMAL RECESSIVE JUVENILE PARKINSONISM IN NON-JAPANESE FAMILIES, Neurology, 50(4), 1998, pp. 2101-2101
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
X-LINKED CHARCOT-MARIE-TOOTH-DISEASE WITH CONNEXIN-32 MUTATIONS - CLINICAL AND ELECTROPHYSIOLOGIC STUDY
Authors: BIROUK N LEGUERN E MAISONOBE T ROUGER H GOUIDER R TARDIEU S GUGENHEIM M ROUTON MC LEGER JM AGID Y BRICE A BOUCHE P
Citation: N. Birouk et al., X-LINKED CHARCOT-MARIE-TOOTH-DISEASE WITH CONNEXIN-32 MUTATIONS - CLINICAL AND ELECTROPHYSIOLOGIC STUDY, Neurology, 50(4), 1998, pp. 1074-1082
ARE COGNITIVE CHANGES THE FIRST SYMPTOMS OF HUNTINGTONS-DISEASE - A STUDY OF GENE CARRIERS
Authors: HAHNBARMA V DEWEER B DURR A DODE C FEINGOLD J PILLON B AGID Y BRICE A DUBOIS B
Citation: V. Hahnbarma et al., ARE COGNITIVE CHANGES THE FIRST SYMPTOMS OF HUNTINGTONS-DISEASE - A STUDY OF GENE CARRIERS, Journal of Neurology, Neurosurgery and Psychiatry, 64(2), 1998, pp. 172-177
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