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Results: 1-25/148
EVIDENCE FOR A ROLE OF PHOSPHOLIPASE C-GAMMA-1 IN THE PATHOGENESIS OFBIPOLAR DISORDER
Authors: TURECKI G GROF P CAVAZZONI P DUFFY A GROF E AHRENS B BERGHOFER A MULLEROERLINGHAUSEN B DVORAKOVA M LIBIGEROVA E VOJTECHOVSKY M ZVOLSKY P JOOBER R NILSSON A PROCHAZKA H LICHT RW RASMUSSEN NA SCHOU M VESTERGAARD P HOLZINGER A SCHUMANN C THAU K ROULEAU GA ALDA M
Citation: G. Turecki et al., EVIDENCE FOR A ROLE OF PHOSPHOLIPASE C-GAMMA-1 IN THE PATHOGENESIS OFBIPOLAR DISORDER, Molecular psychiatry, 3(6), 1998, pp. 534-538
MUTATIONS IN A GENE ENCODING A NOVEL PROTEIN-TYROSINE-PHOSPHATASE CAUSE PROGRESSIVE MYOCLONUS EPILEPSY
Authors: MINASSIAN BA LEE JR HERBRICK JA HUIZENGA J SODER S MUNGALL AJ DUNHAM I GARDNER R FONG CG CARPENTER S JARDIM L SATISHCHANDRA P ANDERMANN E SNEAD OC LOPESCENDES I TSUI LC DELGADOESCUETA AV ROULEAU GA SCHERER SW
Citation: Ba. Minassian et al., MUTATIONS IN A GENE ENCODING A NOVEL PROTEIN-TYROSINE-PHOSPHATASE CAUSE PROGRESSIVE MYOCLONUS EPILEPSY, Nature genetics, 20(2), 1998, pp. 171-174
SHORT GCG EXPANSIONS IN THE PABP2 GENE CAUSE OCULOPHARYNGEAL MUSCULAR-DYSTROPHY
Authors: BRAIS B BOUCHARD JP XIE YG ROCHEFORT DL CHRETIEN N TOME FMS LAFRENIERE RG ROMMENS JM UYAMA E NOHIRA O BLUMEN S KORCYN AD HEUTINK P MATHIEU J DURANCEAU A CODERE F FARDEAU M ROULEAU GA
Citation: B. Brais et al., SHORT GCG EXPANSIONS IN THE PABP2 GENE CAUSE OCULOPHARYNGEAL MUSCULAR-DYSTROPHY, Nature genetics, 18(2), 1998, pp. 164-167
THE CANDIDATE INTERVAL FOR PERIPHERAL NEUROPATHY WITH OR WITHOUT AGENESIS OF THE CORPUS-CALLOSUM MAPS TO A 1 CM REGION ON CHROMOSOME 15Q
Authors: HOWARD HC DUBE MP PREVOST C LOPESCENDES I CASAUBON LK MELANSON M ANDERMANN E ANDERMANN F BOUCHARD JP MATHIEU J ROULEAU GA
Citation: Hc. Howard et al., THE CANDIDATE INTERVAL FOR PERIPHERAL NEUROPATHY WITH OR WITHOUT AGENESIS OF THE CORPUS-CALLOSUM MAPS TO A 1 CM REGION ON CHROMOSOME 15Q, European journal of human genetics, 6, 1998, pp. 4191-4191
FREQUENCY OF SCA1, DRPLA, MJD, SCA2 AND SCA6 MUTATIONS IN A LARGE GROUP OF PORTUGUESE FAMILIES WITH SPINOCEREBELLAR ATAXIA
Authors: SILVEIRA I COUTINHO P MACIEL P HAYES S DIAS A GUIMARAES J LOUREIRO LL BARROS J CHORAO R RIBEIRO P BETTENCOURT M SERRANO P SILVA C ROULEAU GA SEQUEIROS J
Citation: I. Silveira et al., FREQUENCY OF SCA1, DRPLA, MJD, SCA2 AND SCA6 MUTATIONS IN A LARGE GROUP OF PORTUGUESE FAMILIES WITH SPINOCEREBELLAR ATAXIA, European journal of human genetics, 6, 1998, pp. 4235-4235
TRANSGENIC MICE EXPRESSING A MUTANT HUMAN CU ZN SUPEROXIDE-DISMUTASE GENE DRIVEN BY A NFL PROMOTER/
Authors: PRAMATAROVA A ROUSSEL J BRISEBOIS K ROULEAU GA
Citation: A. Pramatarova et al., TRANSGENIC MICE EXPRESSING A MUTANT HUMAN CU ZN SUPEROXIDE-DISMUTASE GENE DRIVEN BY A NFL PROMOTER/, European journal of human genetics, 6, 1998, pp. 6033-6033
THE FERM DOMAIN - A UNIQUE MODULE INVOLVED IN THE LINKAGE OF CYTOPLASMIC PROTEINS TO THE MEMBRANE
Authors: CHISHTI AH KIM AC MARFATIA SM LUTCHMAN M HANSPAL M JINDAL H LIU SC LOW PS ROULEAU GA MOHANDAS N CHASIS JA CONBOY JG GASCARD P TAKAKUWA Y HUANG SC BENZ EJ BRETSCHER A FEHON RG GUSELLA AF RAMESH V SOLOMON F MARCHESI VT TSUKITA S TSUKITA S ARPIN M LOUVARD D TONKS NK ANDERSON JM FANNING AS BRYANT PJ WOODS DF HOOVER KB
Citation: Ah. Chishti et al., THE FERM DOMAIN - A UNIQUE MODULE INVOLVED IN THE LINKAGE OF CYTOPLASMIC PROTEINS TO THE MEMBRANE, Trends in biochemical sciences, 23(8), 1998, pp. 281-282
RESTRICTION MAP OF A YAC AND COSMID CONTIG ENCOMPASSING THE OCULOPHARYNGEAL MUSCULAR-DYSTROPHY CANDIDATE REGION ON CHROMOSOME 14Q11.2-Q13
Authors: XIE YG ROCHEFORT D BRAIS B HOWARD H HAN FY GOU LP MACIEL P THE BT LARSSON C ROULEAU GA
Citation: Yg. Xie et al., RESTRICTION MAP OF A YAC AND COSMID CONTIG ENCOMPASSING THE OCULOPHARYNGEAL MUSCULAR-DYSTROPHY CANDIDATE REGION ON CHROMOSOME 14Q11.2-Q13, Genomics (San Diego, Calif.), 52(2), 1998, pp. 201-204
ANTICIPATION IN FAMILIAR CAVERNOUS ANGIOMAS
Authors: SIEGEL AM BADHWAR A ANDERMANN F ROULEAU GA HESS K ANDERMANN E
Citation: Am. Siegel et al., ANTICIPATION IN FAMILIAR CAVERNOUS ANGIOMAS, Annals of neurology, 44(3), 1998, pp. 58-58
GENETIC-EVIDENCE FOR THE INVOLVEMENT OF OTHER GENES IN MODULATING THESEVERITY OF OCULOPHARYNGEAL MUSCULAR-DYSTROPHY
Authors: BRAIS B BOUCHARD JP TOME FMS FARDEAU M CODERE F DURANCEAU A ROULEAU GA
Citation: B. Brais et al., GENETIC-EVIDENCE FOR THE INVOLVEMENT OF OTHER GENES IN MODULATING THESEVERITY OF OCULOPHARYNGEAL MUSCULAR-DYSTROPHY, Annals of neurology, 44(3), 1998, pp. 59-59
OCULOPHARYNGEAL MUSCULAR-DYSTROPHY - PHENOTYPE GENOTYPE DIFFERENCE IN2 UNRELATED JAPANESE FAMILIES/
Authors: UYAMA E BRAIS B NOHIRA O TOKUNAGA M CHATEAU D TOME FMS ROULEAU GA UCHINO M
Citation: E. Uyama et al., OCULOPHARYNGEAL MUSCULAR-DYSTROPHY - PHENOTYPE GENOTYPE DIFFERENCE IN2 UNRELATED JAPANESE FAMILIES/, Annals of neurology, 44(3), 1998, pp. 146-146
IDENTIFICATION OF 6 NOVEL SOD1 GENE-MUTATIONS IN FAMILIAL AMYOTROPHIC-LATERAL-SCLEROSIS
Authors: BOUKAFTANE Y KHORIS J MOULARD B SALACHAS F MEININGER V MALAFOSSE A CAMU W ROULEAU GA
Citation: Y. Boukaftane et al., IDENTIFICATION OF 6 NOVEL SOD1 GENE-MUTATIONS IN FAMILIAL AMYOTROPHIC-LATERAL-SCLEROSIS, Canadian journal of neurological sciences, 25(3), 1998, pp. 192-196
PRENATAL-DIAGNOSIS OF MACHADO-JOSEPH-DISEASE BY DIRECT MUTATION ANALYSIS
Authors: SEQUEIROS J MACIEL P TABORDA F LEDO S ROCHA JC LOPES A RETO F FORTUNA AM ROUSSEAU M FLEMING M COUTINHO P ROULEAU GA JORGE CS
Citation: J. Sequeiros et al., PRENATAL-DIAGNOSIS OF MACHADO-JOSEPH-DISEASE BY DIRECT MUTATION ANALYSIS, Prenatal diagnosis, 18(6), 1998, pp. 611-617
LACK OF ASSOCIATION BETWEEN THE HSKCA3 CHANNEL GENE CAG POLYMORPHISM AND SCHIZOPHRENIA
Authors: JOOBER R BENKELFAT C BRISEBOIS K LAFRENIERE RGA TURECKI G LAL S BLOOM D LABELLE A LALONDE P FORTIN D ALDA M MORGAN K PALMOUR R ROULEAU GA
Citation: R. Joober et al., LACK OF ASSOCIATION BETWEEN THE HSKCA3 CHANNEL GENE CAG POLYMORPHISM AND SCHIZOPHRENIA, American journal of medical genetics, 81(6), 1998, pp. 508-508
STEROID RECEPTORS CO-RECEPTORS AND SCHIZOPHRENIA - AN ASSOCIATION STUDY/
Authors: JOOBER R BENKELFAT C LAFRENIERE R LAL S BLOOM D LABELLE A LALONDE P BRISEBOIS K TURECKI G ALDA M AJROUD S PALMOUR R ROULEAU GA
Citation: R. Joober et al., STEROID RECEPTORS CO-RECEPTORS AND SCHIZOPHRENIA - AN ASSOCIATION STUDY/, American journal of medical genetics, 81(6), 1998, pp. 520-520
NO EVIDENCE OF PROTEINS CONTAINING LONG POLYGLUTAMINE TRACTS IN THE PATHOGENESIS OF BIPOLAR DISORDER
Authors: TURECKI G ALDA M GROF P JOOBER R CAVAZZONI P DUFFY A GROF E AHRENS B BERGHOFER A MULLEROERLINGHAUSEN B DVORAKOVA M LIBIGEROVA E VOJTECHOVSKY M ZVOLSKY P NILSSON A PROCHAZKA H LICHT RW RASMUSSEN NA SCHOU M VESTERGAARD P HOLZINGER A SCHUMANN C THAU K ROULEAU GA
Citation: G. Turecki et al., NO EVIDENCE OF PROTEINS CONTAINING LONG POLYGLUTAMINE TRACTS IN THE PATHOGENESIS OF BIPOLAR DISORDER, American journal of medical genetics, 81(6), 1998, pp. 542-543
METHODOLOGICAL PROBLEMS IN METAANALYSIS OF ASSOCIATION STUDIES BETWEEN BIPOLAR AFFECTIVE-DISORDER AND THE TYROSINE-HYDROXYLASE GENE - REPLY
Authors: TURECKI G ROULEAU GA JOOBER R MARI J MORGAN K
Citation: G. Turecki et al., METHODOLOGICAL PROBLEMS IN METAANALYSIS OF ASSOCIATION STUDIES BETWEEN BIPOLAR AFFECTIVE-DISORDER AND THE TYROSINE-HYDROXYLASE GENE - REPLY, American journal of medical genetics, 81(4), 1998, pp. 351-352
ANALYSIS OF SCA1, DRPLA, MJD, SCA2, AND SCA6 CAG REPEATS IN 48 PORTUGUESE ATAXIA FAMILIES
Authors: SILVEIRA I COUTINHO P MACIEL P GASPAR C HAYES S DIAS A GUIMARAES J LOUREIRO L SEQUEIROS J ROULEAU GA
Citation: I. Silveira et al., ANALYSIS OF SCA1, DRPLA, MJD, SCA2, AND SCA6 CAG REPEATS IN 48 PORTUGUESE ATAXIA FAMILIES, American journal of medical genetics, 81(2), 1998, pp. 134-138
ANTICIPATION IN FAMILIAL CAVERNOUS ANGIOMA - A STUDY OF 52 FAMILIES FROM INTERNATIONAL FAMILIAL CAVERNOUS ANGIOMA STUDY
Authors: SIEGEL AM ANDERMANN E BADHWAR A ROULEAU GA WOLFORD GL ANDERMANN F HESS K
Citation: Am. Siegel et al., ANTICIPATION IN FAMILIAL CAVERNOUS ANGIOMA - A STUDY OF 52 FAMILIES FROM INTERNATIONAL FAMILIAL CAVERNOUS ANGIOMA STUDY, Lancet, 352(9141), 1998, pp. 1676-1677
AUTOSOMAL-DOMINANT DISTAL MYOPATHY WITH PHARYNGEAL AND VOCAL CORD WEAKNESS
Authors: FEIT H SILBERGLEIT A SCHNEIDER LB GUTIERREZ JA ROULEAU GA BRAIS B JACKSON CE
Citation: H. Feit et al., AUTOSOMAL-DOMINANT DISTAL MYOPATHY WITH PHARYNGEAL AND VOCAL CORD WEAKNESS, Neurology, 50(4), 1998, pp. 4011-4011
BRAIN GLYCERALDEHYDE-3-PHOSPHATE DEHYDROGENASE-ACTIVITY IN HUMAN TRINUCLEOTIDE REPEAT DISORDERS
Authors: KISH SJ LOPESCENDES I GUTTMAN M FURUKAWA Y PANDOLFO M ROULEAU GA ROSS BM NANCE M SCHUT L ANG L DISTEFANO L
Citation: Sj. Kish et al., BRAIN GLYCERALDEHYDE-3-PHOSPHATE DEHYDROGENASE-ACTIVITY IN HUMAN TRINUCLEOTIDE REPEAT DISORDERS, Archives of neurology, 55(10), 1998, pp. 1299-1304
UNSTABLE INSERTION IN THE 5'-FLANKING REGION OF THE CYSTATIN-B GENE IS THE MOST COMMON MUTATION IN PROGRESSIVE MYOCLONUS EPILEPSY TYPE-1, EPM1
Authors: LAFRENIERE RG ROCHEFORT DL CHRETIEN N ROMMENS JM COCHIUS JI KALVIAINEN R NOUSIAINEN U PATRY G FARRELL K SODERFELDT B FEDERICO A HALE BR COSSIO OH SORENSEN T POULIOT MA KMIEC T ULDALL P JANSZKY J PRANZATELLI MR ANDERMANN F ANDERMANN E ROULEAU GA
Citation: Rg. Lafreniere et al., UNSTABLE INSERTION IN THE 5'-FLANKING REGION OF THE CYSTATIN-B GENE IS THE MOST COMMON MUTATION IN PROGRESSIVE MYOCLONUS EPILEPSY TYPE-1, EPM1, Nature genetics, 15(3), 1997, pp. 298-302
RECENT STUDIES ON OCULOPHARYNGEAL MUSCULAR-DYSTROPHY IN QUEBEC
Authors: BOUCHARD JP BRAIS B BRUNET D GOULD PV ROULEAU GA
Citation: Jp. Bouchard et al., RECENT STUDIES ON OCULOPHARYNGEAL MUSCULAR-DYSTROPHY IN QUEBEC, Neuromuscular disorders, 7, 1997, pp. 22-29
USING THE FULL POWER OF LINKAGE ANALYSIS IN 11 FRENCH-CANADIAN FAMILIES TO FINE MAP THE OCULOPHARYNGEAL MUSCULAR-DYSTROPHY GENE
Authors: BRAIS B BOUCHARD JP GOSSELIN F XIE YG FARDEAU M TOME FMS ROULEAU GA
Citation: B. Brais et al., USING THE FULL POWER OF LINKAGE ANALYSIS IN 11 FRENCH-CANADIAN FAMILIES TO FINE MAP THE OCULOPHARYNGEAL MUSCULAR-DYSTROPHY GENE, Neuromuscular disorders, 7, 1997, pp. 70-74
A PILOT-STUDY ON UPPER ESOPHAGEAL SPHINCTER DILATATION FOR THE TREATMENT OF DYSPHAGIA IN PATIENTS WITH OCULOPHARYNGEAL MUSCULAR-DYSTROPHY
Authors: MATHIEU J LAPOINTE G BRASSARD A TREMBLAY C BRAIS B ROULEAU GA BOUCHARD JP
Citation: J. Mathieu et al., A PILOT-STUDY ON UPPER ESOPHAGEAL SPHINCTER DILATATION FOR THE TREATMENT OF DYSPHAGIA IN PATIENTS WITH OCULOPHARYNGEAL MUSCULAR-DYSTROPHY, Neuromuscular disorders, 7, 1997, pp. 100-104
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