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Results: 1-25 | 26-50 | 51-53
Results: 1-25/53
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
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
FAMILIAL TEMPORAL-LOBE EPILEPSY - A CLINICALLY HETEROGENEOUS SYNDROME
Authors: CENDES F LOPESCENDES I ANDERMANN E ANDERMANN F
Citation: F. Cendes et al., FAMILIAL TEMPORAL-LOBE EPILEPSY - A CLINICALLY HETEROGENEOUS SYNDROME, Neurology, 50(2), 1998, pp. 554-557
THE NATURAL-HISTORY OF DEGENERATIVE ATAXIA - A RETROSPECTIVE STUDY IN466 PATIENTS
Authors: KLOCKGETHER T LUDTKE R KRAMER B BURK K SCHOLS L RIESS O LACCONE F BOESCH S LOPESCENDES I BRICE A INZELBERG R ZILBER N DICHGANS J
Citation: T. Klockgether et al., THE NATURAL-HISTORY OF DEGENERATIVE ATAXIA - A RETROSPECTIVE STUDY IN466 PATIENTS, Brain, 121, 1998, pp. 589-600
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
AUTOSOMAL-DOMINANT NOCTURNAL FRONTAL-LOBE EPILEPSY - GENETIC-HETEROGENEITY AND EVIDENCE FOR A 2ND LOCUS AT 15Q24
Authors: PHILLIPS HA SCHEFFER IE CROSSLAND KM BHATIA KP FISH DR MARSDEN CD HOWELL SJL STEPHENSON JBP TOLMIE J PLAZZI G EEGOLOFSSON O SINGH R LOPESCENDES I ANDERMANN E ANDERMANN F BERKOVIC SF MULLEY JC
Citation: Ha. Phillips et al., AUTOSOMAL-DOMINANT NOCTURNAL FRONTAL-LOBE EPILEPSY - GENETIC-HETEROGENEITY AND EVIDENCE FOR A 2ND LOCUS AT 15Q24, American journal of human genetics, 63(4), 1998, pp. 1108-1116
THE NEUROPATHOLOGY OF CAG REPEAT DISEASES - REVIEW AND UPDATE OF GENETIC AND MOLECULAR-FEATURES
Authors: ROBITAILLE Y LOPESCENDES I BECHER M ROULEAU G CLARK AW
Citation: Y. Robitaille et al., THE NEUROPATHOLOGY OF CAG REPEAT DISEASES - REVIEW AND UPDATE OF GENETIC AND MOLECULAR-FEATURES, Brain pathology, 7(3), 1997, pp. 901-926
TRANSLATED CAG REPEATS IN SCHIZOPHRENIA
Authors: JOOBER R BENKELFAT C LAL S LOPESCENDES I LALONDE P BLOOM D LABELLE A PALMOUR R ROULEAU G
Citation: R. Joober et al., TRANSLATED CAG REPEATS IN SCHIZOPHRENIA, American journal of medical genetics, 74(6), 1997, pp. 610-610
MOLECULAR CHARACTERISTICS OF MACHADO-JOSEPH-DISEASE MUTATION IN 25 NEWLY DESCRIBED BRAZILIAN FAMILIES
Authors: LOPESCENDES I TEIVE HGA CARDOSO F VIANA EM CALCAGNOTTO ME DACOSTA JC TREVISOLBITTENCOURT PC MACIEL JA ROUSSEAU M SANTOS AS ARAUJO AQC ROULEAU GA
Citation: I. Lopescendes et al., MOLECULAR CHARACTERISTICS OF MACHADO-JOSEPH-DISEASE MUTATION IN 25 NEWLY DESCRIBED BRAZILIAN FAMILIES, BRAZ J GENE, 20(4), 1997, pp. 717-724
FREQUENCY AND MOLECULAR CHARACTERISTICS OF THE SPINOCEREBELLAR ATAXIATYPE-2 MUTATION
Authors: LOPESCENDES I ANDERMANN E NECHIPORUK A ATTIG E BOSH S WAGNER M ANDERMANN F GERSTENBRAND F BOTEZ MI TEIVE H JAIN S PULST SM ROULEAU GA
Citation: I. Lopescendes et al., FREQUENCY AND MOLECULAR CHARACTERISTICS OF THE SPINOCEREBELLAR ATAXIATYPE-2 MUTATION, Neurology, 48(3), 1997, pp. 3077-3077
SPINOCEREBELLAR ATAXIA - A GENETIC-STUDY IN 30 BRAZILIAN FAMILIES
Authors: TEIVE HAG ARRUDA WO TREVISOL PCB LOPESCENDES I ROULEAU GA WERNECK LC
Citation: Hag. Teive et al., SPINOCEREBELLAR ATAXIA - A GENETIC-STUDY IN 30 BRAZILIAN FAMILIES, Neurology, 48(3), 1997, pp. 3079-3079
POLYGLUTAMIN CONTAINING PROTEINS IN SCHIZOPHRENIA
Authors: JOOBER R BENKELFAT C MANDEL JL LOPESCENDES I LAL S LALONDE P LABELLE A PALMOUR R ODRISCOLL G ROULEAU GA
Citation: R. Joober et al., POLYGLUTAMIN CONTAINING PROTEINS IN SCHIZOPHRENIA, Biological psychiatry, 41, 1997, pp. 400-400
INVESTIGATION OF SPINOCEREBELLAR ATAXIA TYPE-6 (SCA6) IN A GROUP OF SPINOCEREBELLAR ATAXIA PATIENTS - FREQUENCY, ALLELE DISTRIBUTION, AND CLINICAL-FEATURES
Authors: HAYES S LOPESCENDES I ANDERMANN E GASPAR C ROULEAU GA
Citation: S. Hayes et al., INVESTIGATION OF SPINOCEREBELLAR ATAXIA TYPE-6 (SCA6) IN A GROUP OF SPINOCEREBELLAR ATAXIA PATIENTS - FREQUENCY, ALLELE DISTRIBUTION, AND CLINICAL-FEATURES, American journal of human genetics, 61(4), 1997, pp. 1812-1812
PATTERNS OF TRANSMISSION AND CORRELATION BETWEEN CAG REPEAT AND ONSETAGE IN AN ETHNICALLY DIVERSE POPULATION OF SPINOCEREBELLAR ATAXIA TYPE-2 (SCA2)
Authors: PREMKUMAR S LOPESCENDES I DESTEFANO AL ROULEAU GA FARRER LA
Citation: S. Premkumar et al., PATTERNS OF TRANSMISSION AND CORRELATION BETWEEN CAG REPEAT AND ONSETAGE IN AN ETHNICALLY DIVERSE POPULATION OF SPINOCEREBELLAR ATAXIA TYPE-2 (SCA2), American journal of human genetics, 61(4), 1997, pp. 1859-1859
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
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
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
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
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
COGNITIVE OUTCOME IN SCHOOL-AGE OFFSPRING OF EPILEPTIC MOTHERS EXPOSED TO ANTICONVULSANT THERAPY DURING PREGNANCY
Authors: LEONARD G PTITO A SENI MH VINETTE M SCHOPFLOCHER C DAIGNAULT S LOPESCENDES I SILVER K ANDERMANN E
Citation: G. Leonard et al., COGNITIVE OUTCOME IN SCHOOL-AGE OFFSPRING OF EPILEPTIC MOTHERS EXPOSED TO ANTICONVULSANT THERAPY DURING PREGNANCY, Neurology, 46(2), 1996, pp. 1126-1126
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
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
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