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Results: 51-75/148
MOSAICISM OF THE CAG REPEAT IN CNS TISSUE IN RELATION TO AGE AT DEATHIN SPINOCEREBELLAR ATAXIA TYPE-1 AND MACHADO-JOSEPH-DISEASE PATIENTS
Authors: MACIEL P LOPESCENDES I KISH S SEQUEIROS J ROULEAU GA
Citation: P. Maciel et al., MOSAICISM OF THE CAG REPEAT IN CNS TISSUE IN RELATION TO AGE AT DEATHIN SPINOCEREBELLAR ATAXIA TYPE-1 AND MACHADO-JOSEPH-DISEASE PATIENTS, American journal of human genetics, 60(4), 1997, pp. 993-996
HEREDITARY SPASTIC PARAPLEGIA - LOD-SCORE CONSIDERATIONS FOR CONFIRMATION OF LINKAGE IN A HETEROGENEOUS TRAIT
Authors: DUBE MP MLODZIENSKI MA KIBAR Z FARLOW MR EBERS G HARPER P KOLODNY EH ROULEAU GA FIGLEWICZ DA
Citation: Mp. Dube et al., HEREDITARY SPASTIC PARAPLEGIA - LOD-SCORE CONSIDERATIONS FOR CONFIRMATION OF LINKAGE IN A HETEROGENEOUS TRAIT, American journal of human genetics, 60(3), 1997, pp. 625-629
MUTATION DETECTION IN MACHADO-JOSEPH DISEASE USING REPEAT EXPANSION DETECTION
Authors: LINDBLAD K LUNKES A MACIEL P STEVANIN G ZANDER C KLOCKGETHER T RATZLAFF T BRICE A ROULEAU GA HUDSON T AUBURGER G SCHALLING M
Citation: K. Lindblad et al., MUTATION DETECTION IN MACHADO-JOSEPH DISEASE USING REPEAT EXPANSION DETECTION, Molecular medicine, 2(1), 1996, pp. 77-85
MODERATE EXPANSION OF A NORMALLY BIALLELIC TRINUCLEOTIDE REPEAT IN SPINOCEREBELLAR ATAXIA TYPE-2
Authors: PULST SM NECHIPORUK A NECHIPORUK T GISPERT S CHEN XN LOPESCENDES I PEARLMAN S STARKMAN S OROZCODIAZ G LUNKES A DEJONG P ROULEAU GA AUBURGER G KORENBERG JR FIGUEROA C SAHBA S
Citation: Sm. Pulst et al., MODERATE EXPANSION OF A NORMALLY BIALLELIC TRINUCLEOTIDE REPEAT IN SPINOCEREBELLAR ATAXIA TYPE-2, Nature genetics, 14(3), 1996, pp. 269-276
ISOLATION AND GENOMIC STRUCTURE OF A HUMAN HOMOLOG OF THE YEAST PERIODIC TRYPTOPHAN PROTEIN-2 (PWP2) GENE-MAPPING TO 21Q22.3
Authors: LAFRENIERE RG ROCHEFORT DL CHRETIEN N NEVILLE CE KORNELUK RG ZUO L WEI YL LICHTER J ROULEAU GA
Citation: Rg. Lafreniere et al., ISOLATION AND GENOMIC STRUCTURE OF A HUMAN HOMOLOG OF THE YEAST PERIODIC TRYPTOPHAN PROTEIN-2 (PWP2) GENE-MAPPING TO 21Q22.3, PCR methods and applications, 6(12), 1996, pp. 1216-1226
THE GENE RESPONSIBLE FOR CLOUSTON HIDROTIC ECTODERMAL DYSPLASIA MAPS TO THE PERICENTROMERIC REGION OF CHROMOSOME 13Q
Authors: KIBAR Z DERKALOUSTIAN VM BRAIS B HANI V FRASER FC ROULEAU GA
Citation: Z. Kibar et al., THE GENE RESPONSIBLE FOR CLOUSTON HIDROTIC ECTODERMAL DYSPLASIA MAPS TO THE PERICENTROMERIC REGION OF CHROMOSOME 13Q, Human molecular genetics, 5(4), 1996, pp. 543-547
ISOLATION AND CHARACTERIZATION OF GT335, A NOVEL HUMAN GENE CONSERVEDIN ESCHERICHIA-COLI AND MAPPING TO 21Q22.3
Authors: LAFRENIERE RG ROCHEFORT DL KIBAR Z FON EA HAN FY COCHIUS J KANG X BAIRD S KORNELUK RG ANDERMANN E ROMMENS JM ROULEAU GA
Citation: Rg. Lafreniere et al., ISOLATION AND CHARACTERIZATION OF GT335, A NOVEL HUMAN GENE CONSERVEDIN ESCHERICHIA-COLI AND MAPPING TO 21Q22.3, Genomics, 38(3), 1996, pp. 264-272
OCULOPHARYNGEAL MUSCULAR-DYSTROPHY IN JAPANESE - CLINICOPATHOLOGICAL AND GENETIC-STUDIES
Authors: UYAMA E NOHIRA O BRAIS B TOME FMS TOKUNAGA M OKABE T ROULEAU GA CHATEAU D UCHINO M
Citation: E. Uyama et al., OCULOPHARYNGEAL MUSCULAR-DYSTROPHY IN JAPANESE - CLINICOPATHOLOGICAL AND GENETIC-STUDIES, Annals of neurology, 40(6), 1996, pp. 1-1
SOMATIC MOSAICISM IN THE CENTRAL-NERVOUS-SYSTEM IN SPINOCEREBELLAR ATAXIA TYPE-1 AND MACHADO-JOSEPH DISEASE
Authors: LOPESCENDES I MACIEL P KISH S GASPAR C ROBITAILLE Y CLARK HB KOEPPEN AH NANCE M SCHUT L SILVEIRA I COUTINHO P SEQUEIROS J ROULEAU GA
Citation: I. Lopescendes et al., SOMATIC MOSAICISM IN THE CENTRAL-NERVOUS-SYSTEM IN SPINOCEREBELLAR ATAXIA TYPE-1 AND MACHADO-JOSEPH DISEASE, Annals of neurology, 40(2), 1996, pp. 199-206
SOD1 MUTATION IS ASSOCIATED WITH ACCUMULATION OF NEUROFILAMENTS IN AMYOTROPHIC-LATERAL-SCLEROSIS
Authors: ROULEAU GA CLARK AW ROOKE K PRAMATAROVA A KRIZUS A SUCHOWERSKY O JULIEN JP FIGLEWICZ D
Citation: Ga. Rouleau et al., SOD1 MUTATION IS ASSOCIATED WITH ACCUMULATION OF NEUROFILAMENTS IN AMYOTROPHIC-LATERAL-SCLEROSIS, Annals of neurology, 39(1), 1996, pp. 128-131
LINKAGE DISEQUILIBRIUM ANALYSIS IN MACHADO-JOSEPH DISEASE PATIENTS OFDIFFERENT ETHNIC-ORIGINS
Authors: GASPAR C LOPESCENDES I DESTEFANO AL MACIEL P SILVEIRA I COUTINHO P MACLEOD P SEQUEIROS J FARRER LA ROULEAU GA
Citation: C. Gaspar et al., LINKAGE DISEQUILIBRIUM ANALYSIS IN MACHADO-JOSEPH DISEASE PATIENTS OFDIFFERENT ETHNIC-ORIGINS, Human genetics, 98(5), 1996, pp. 620-624
NEUROFIBROMATOSIS TYPE-2 - A NEW MECHANISM OF TUMOR SUPPRESSION
Authors: LUTCHMAN M ROULEAU GA
Citation: M. Lutchman et Ga. Rouleau, NEUROFIBROMATOSIS TYPE-2 - A NEW MECHANISM OF TUMOR SUPPRESSION, Trends in neurosciences, 19(9), 1996, pp. 373-377
LOSS OF HETEROZYGOSITY ON CHROMOSOME-22 IN HUMAN GLIOMAS DOES NOT INACTIVATE THE NEUROFIBROMATOSIS TYPE-2 GENE
Authors: WATKINS D RUTTLEDGE MH SARRAZIN J RANGARATNAM S POISSON M DELATTRE JY ROULEAU GA
Citation: D. Watkins et al., LOSS OF HETEROZYGOSITY ON CHROMOSOME-22 IN HUMAN GLIOMAS DOES NOT INACTIVATE THE NEUROFIBROMATOSIS TYPE-2 GENE, Cancer genetics and cytogenetics, 92(1), 1996, pp. 73-78
NO ASSOCIATION BETWEEN CHROMOSOME-18 MARKERS AND LITHIUM-RESPONSIVE AFFECTIVE-DISORDERS
Authors: TURECKI G ALDA M GROF P GROF E MARTIN R CAVAZZONI PA DUFFY A MACIEL P ROULEAU GA
Citation: G. Turecki et al., NO ASSOCIATION BETWEEN CHROMOSOME-18 MARKERS AND LITHIUM-RESPONSIVE AFFECTIVE-DISORDERS, Psychiatry research, 63(1), 1996, pp. 17-23
VARICELLA-ZOSTER VIRUS-DNA IN CSF AND ARTERIES IN DELAYED CONTRALATERAL HEMIPLEGIA - EVIDENCE FOR VIRAL INVASION OF CEREBRAL-ARTERIES
Authors: MELANSON M CHALK C GEORGEVICH L FETT K LAPIERRE Y DUONG H RICHARDSON J MARINEAU C ROULEAU GA
Citation: M. Melanson et al., VARICELLA-ZOSTER VIRUS-DNA IN CSF AND ARTERIES IN DELAYED CONTRALATERAL HEMIPLEGIA - EVIDENCE FOR VIRAL INVASION OF CEREBRAL-ARTERIES, Neurology, 47(2), 1996, pp. 569-570
HEREDITARY SPASTIC PARAPLEGIA - ADVANCES IN GENETIC RESEARCH
Authors: FINK JK HEIMANPATTERSON T BIRD T CAMBI F DUBE MP FIGLEWICZ DA FINK JK HAINES JL HEIMANPATTERSON T HENTATI A PERICAKVANCE MA RASKIND W ROULEAU GA SIDDIQUE T
Citation: Jk. Fink et al., HEREDITARY SPASTIC PARAPLEGIA - ADVANCES IN GENETIC RESEARCH, Neurology, 46(6), 1996, pp. 1507-1514
GENETIC-MAPPING OF THE SPINOCEREBELLAR ATAXIA TYPE-2 GENE ON HUMAN-CHROMOSOME-12
Authors: NECHIPORUK A LOPESCENDES I NECHIPORUK T STARKMAN S ANDERMANN E ROULEAU GA WEISSENBACH JS KORT E PULST SM
Citation: A. Nechiporuk et al., GENETIC-MAPPING OF THE SPINOCEREBELLAR ATAXIA TYPE-2 GENE ON HUMAN-CHROMOSOME-12, Neurology, 46(6), 1996, pp. 1731-1735
ANALYSIS OF THE KSP REPEAT OF THE NEUROFILAMENT HEAVY SUBUNIT IN FAMILIAL AMYOTROPHIC-LATERAL-SCLEROSIS
Authors: ROOKE K FIGLEWICZ DA HAN FY ROULEAU GA
Citation: K. Rooke et al., ANALYSIS OF THE KSP REPEAT OF THE NEUROFILAMENT HEAVY SUBUNIT IN FAMILIAL AMYOTROPHIC-LATERAL-SCLEROSIS, Neurology, 46(3), 1996, pp. 789-790
LINKAGE DISEQUILIBRIUM IN A GROUP OF MACHADO-JOSEPH DISEASE PATIENTS OF DIFFERENT GEOGRAPHIC ORIGIN
Authors: GASPAR C LOPESCENDES I DESTEFANO A MACIEL P SILVEIRA I COUTINHO P FARRER L SEQUEIROS J ROULEAU GA
Citation: C. Gaspar et al., LINKAGE DISEQUILIBRIUM IN A GROUP OF MACHADO-JOSEPH DISEASE PATIENTS OF DIFFERENT GEOGRAPHIC ORIGIN, Neurology, 46(2), 1996, pp. 2098-2098
THE NATURAL-HISTORY OF OCULOPHARYNGEAL MUSCULAR-DYSTROPHY BASED ON THE STUDY OF A LARGE COHORT OF FRENCH-CANADIAN MUTATION CARRIERS
Authors: BRAIS B TOME FMS FARDEAU M XIE YG ROULEAU GA BOUCHARD JP
Citation: B. Brais et al., THE NATURAL-HISTORY OF OCULOPHARYNGEAL MUSCULAR-DYSTROPHY BASED ON THE STUDY OF A LARGE COHORT OF FRENCH-CANADIAN MUTATION CARRIERS, Neurology, 46(2), 1996, pp. 4083-4083
BRAIN CHOLINEACETYLTRANSFERASE ACTIVITY IN SCA1, SCA2, SCA3 MJD, AND FRIEDREICHS ATAXIA/
Authors: KISH SJ KOEPPEN AH NANCE M LOPESCENDES I ROULEAU GA DISTEFANO L
Citation: Sj. Kish et al., BRAIN CHOLINEACETYLTRANSFERASE ACTIVITY IN SCA1, SCA2, SCA3 MJD, AND FRIEDREICHS ATAXIA/, Neurology, 46(2), 1996, pp. 6008-6008
THE GENE RESPONSIBLE FOR ANDERMANN SYNDROME MAPS TO CHROMOSOME 15Q
Authors: MELANSON M CASAUBON L LOPESCENDES I MARINEAU C ANDERMANN E ANDERMANN F WEISSENBACH J MATHIEU J BOUCHARD JP PREVOST C ROULEAU GA
Citation: M. Melanson et al., THE GENE RESPONSIBLE FOR ANDERMANN SYNDROME MAPS TO CHROMOSOME 15Q, Neurology, 46(2), 1996, pp. 21005-21005
TESTING CAG TRINUCLEOTIDE REPEATS IN POSTMORTEM DRAINS FROM PATIENTS WITH SPINOCEREBELLAR ATAXIA - BUILDING THE BRIDGE BETWEEN NEUROPATHOLOGY AND MOLECULAR-GENETICS
Authors: LOPESCENDES I KISH S SILVEIRA I ROBITAILLE Y ROULEAU GA
Citation: I. Lopescendes et al., TESTING CAG TRINUCLEOTIDE REPEATS IN POSTMORTEM DRAINS FROM PATIENTS WITH SPINOCEREBELLAR ATAXIA - BUILDING THE BRIDGE BETWEEN NEUROPATHOLOGY AND MOLECULAR-GENETICS, Neurology, 46(2), 1996, pp. 30002-30002
SOMATIC MOSAICISM OF THE CAG REPEAT LENGTH IN BRAIN SPECIMENS OF SPINOCEREBELLAR ATAXIA TYPE-1 AND MACHADO-JOSEPH DISEASE
Authors: MACIEL P LOPESCENDES I GASPAR C SILVEIRA I ROULEAU GA KISH S COUTINHO P SEQUEIROS J
Citation: P. Maciel et al., SOMATIC MOSAICISM OF THE CAG REPEAT LENGTH IN BRAIN SPECIMENS OF SPINOCEREBELLAR ATAXIA TYPE-1 AND MACHADO-JOSEPH DISEASE, Neurology, 46(2), 1996, pp. 30004-30004
FREQUENCY OF SPINOCEREBELLAR ATAXIA TYPE-1, DENTATORUBROPALLIDOLUYSIAN ATROPHY, AND MACHADO-JOSEPH DISEASE MUTATIONS IN A LARGE GROUP OF SPINOCEREBELLAR ATAXIA PATIENTS
Authors: SILVEIRA I LOPESCENDES I KISH S MACIEL P GASPAR C COUTINHO P BOTEZ MI TEIVE H ARRUDA W STEINER CE PINTOJUNIOR W MACIEL JA JAIN S SACK G ANDERMANN E SUDARSKY L ROSENBERG R MACLEOD P CHITAYAT D BABUL R SEQUEIROS J ROULEAU GA
Citation: I. Silveira et al., FREQUENCY OF SPINOCEREBELLAR ATAXIA TYPE-1, DENTATORUBROPALLIDOLUYSIAN ATROPHY, AND MACHADO-JOSEPH DISEASE MUTATIONS IN A LARGE GROUP OF SPINOCEREBELLAR ATAXIA PATIENTS, Neurology, 46(1), 1996, pp. 214-218
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