Results: 1-25 | 26-31
Results: 1-25/31
ACUTE GALLSTONE PANCREATITIS
Authors: NEVES C RESENDE C COUTINHO P GUERREIRO J CONRADO T LIMA FM
Citation: C. Neves et al., ACUTE GALLSTONE PANCREATITIS, British Journal of Surgery, 82, 1995, pp. 123-124
A FAMILIAL FACTOR-INDEPENDENT OF CAG REPEAT LENGTH INFLUENCES AGE AT ONSET OF MACHADO-JOSEPH DISEASE
Authors: DESTEFANO AL CUPPLES LA MACIEL P GASPAR C RADVANY J DAWSON DM SUDARSKY L CORWIN L COUTINHO P MACLEOD P SEQUEIROS J ROULEAU GA FARRER LA
Citation: Al. Destefano et al., A FAMILIAL FACTOR-INDEPENDENT OF CAG REPEAT LENGTH INFLUENCES AGE AT ONSET OF MACHADO-JOSEPH DISEASE, American journal of human genetics, 59(1), 1996, pp. 119-127
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
AN INTERMEDIATE ALLELE OF 51 REPEATS FOUND AT THE MACHADO-JOSEPH-DISEASE (MJD) LOCUS - IMPLICATIONS FOR PREDICTIVE TESTING AND THE STUDY OFTHE ORIGIN OF MJD MUTATION
Authors: MACIEL P ROUSSEAU M GASPAR C COUTINHO P SEQUEIROS J ROULEAU GA
Citation: P. Maciel et al., AN INTERMEDIATE ALLELE OF 51 REPEATS FOUND AT THE MACHADO-JOSEPH-DISEASE (MJD) LOCUS - IMPLICATIONS FOR PREDICTIVE TESTING AND THE STUDY OFTHE ORIGIN OF MJD MUTATION, American journal of human genetics, 61(4), 1997, pp. 1837-1837
CAUSES OF DEATH IN MACHADO-JOSEPH-DISEASE - A CASE-CONTROL STUDY IN THE AZORES (PORTUGAL)
Authors: LIMA M COUTINHO P ABADE A VASCONCELOS J MAYER FM
Citation: M. Lima et al., CAUSES OF DEATH IN MACHADO-JOSEPH-DISEASE - A CASE-CONTROL STUDY IN THE AZORES (PORTUGAL), Archives of neurology, 55(10), 1998, pp. 1341-1344
CORRELATION BETWEEN CAG REPEAT LENGTH AND CLINICAL-FEATURES IN MACHADO-JOSEPH DISEASE
Authors: MACIEL P GASPAR C DESTEFANO AL SILVEIRA I COUTINHO P RADVANY J DAWSON DM SUDARSKY L GUIMARAES J LOUREIRO JEL NEZARATI MM CORWIN LI LOPESCENDES I ROOKE K ROSENBERG R MACLEOD P FARRER LA SEQUEIROS J ROULEAU GA
Citation: P. Maciel et al., CORRELATION BETWEEN CAG REPEAT LENGTH AND CLINICAL-FEATURES IN MACHADO-JOSEPH DISEASE, American journal of human genetics, 57(1), 1995, pp. 54-61
FAMILIAL EFFECT INDEPENDENT OF CAG REPEAT LENGTH INFLUENCES AGE AT ONSET OF MACHADO-JOSEPH DISEASE
Authors: DESTEFANO AL CUPPLES LA MACIEL P GASPAR C RADVANY J DAWSON DM SUDARSKY L COUTINHO P MACLEOD P SEQUEIROS J ROULEAU G FARRER LA
Citation: Al. Destefano et al., FAMILIAL EFFECT INDEPENDENT OF CAG REPEAT LENGTH INFLUENCES AGE AT ONSET OF MACHADO-JOSEPH DISEASE, American journal of human genetics, 57(4), 1995, pp. 1376-1376
FREQUENCY OF INTRAGENIC HAPLOTYPES AND ASSOCIATION WITH (CAG)N REPEATLENGTH AT THE MJD1 LOCUS IN A LARGE AZOREAN CONTROL-GROUP
Authors: GASPAR C MACIEL P GUIMARAES L ARVIDSSON K HAYES S COUTINHO P SEQUEIROS J ROULEAU GA
Citation: C. Gaspar et al., FREQUENCY OF INTRAGENIC HAPLOTYPES AND ASSOCIATION WITH (CAG)N REPEATLENGTH AT THE MJD1 LOCUS IN A LARGE AZOREAN CONTROL-GROUP, American journal of human genetics, 61(4), 1997, pp. 1802-1802
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
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
FREQUENCY OF THE CAG REPEAT MUTATIONS CAUSING SPINOCEREBELLAR ATAXIA IN A LARGE GROUP OF 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., FREQUENCY OF THE CAG REPEAT MUTATIONS CAUSING SPINOCEREBELLAR ATAXIA IN A LARGE GROUP OF PORTUGUESE ATAXIA FAMILIES, American journal of human genetics, 61(4), 1997, pp. 1876-1876
GENDER EQUALITY IN MACHADO-JOSEPH DISEASE
Authors: DESTEFANO AL FARRER LA MACIEL P GASPAR C ROULEAU GA COUTINHO P SEQUEIROS J
Citation: Al. Destefano et al., GENDER EQUALITY IN MACHADO-JOSEPH DISEASE, Nature genetics, 11(2), 1995, pp. 118-119
GENETIC-LINKAGE STUDIES OF MACHADO-JOSEPH DISEASE WITH CHROMOSOME-14QSTRPS IN 16 PORTUGUESE-AZOREAN KINDREDS
Authors: SEQUEIROS J SILVEIRA I MACIEL P COUTINHO P MANAIA A GASPAR C BURLET P LOUREIRO L GUIMARAES J TANAKA H TAKIYAMA Y SAKAMOTO H NISHIZAWA N NOMURA Y SEGAWA M TSUJI S MELKI J MUNNICH A
Citation: J. Sequeiros et al., GENETIC-LINKAGE STUDIES OF MACHADO-JOSEPH DISEASE WITH CHROMOSOME-14QSTRPS IN 16 PORTUGUESE-AZOREAN KINDREDS, Genomics, 21(3), 1994, pp. 645-648
HEREDITARY ATAXIAS AND SPASTIC PARAPLEGIAS - METHODOLOGICAL ASPECTS OF A PREVALENCE STUDY IN PORTUGAL
Authors: SILVA MC COUTINHO P PINHEIRO CD NEVES JM SERRANO P
Citation: Mc. Silva et al., HEREDITARY ATAXIAS AND SPASTIC PARAPLEGIAS - METHODOLOGICAL ASPECTS OF A PREVALENCE STUDY IN PORTUGAL, Journal of clinical epidemiology, 50(12), 1997, pp. 1377-1384
HETEROGENEOUS PRESENTATION IN LEIGH-SYNDROME
Authors: VILARINHO L MAIA C COELHO T COUTINHO P SANTORELLI FM
Citation: L. Vilarinho et al., HETEROGENEOUS PRESENTATION IN LEIGH-SYNDROME, Journal of inherited metabolic disease, 20(5), 1997, pp. 704-705
INTERNATIONAL COOPERATIVE ATAXIA RATING-SCALE FOR PHARMACOLOGICAL ASSESSMENT OF THE CEREBELLAR SYNDROME
Authors: TROUILLAS P TAKAYANAGI T HALLETT M CURRIER RD SUBRAMONY SH WESSEL K BRYER A DIENER HC MASSAQUOI S GOMEZ CM COUTINHO P BENHAMIDA M CAMPANELLA G FILLA A SCHUT L TIMANN D HONNORAT J NIGHOGHOSSIAN N MANYAM B
Citation: P. Trouillas et al., INTERNATIONAL COOPERATIVE ATAXIA RATING-SCALE FOR PHARMACOLOGICAL ASSESSMENT OF THE CEREBELLAR SYNDROME, Journal of the neurological sciences, 145(2), 1997, pp. 205-211
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
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
MACHADO-JOSEPH DISEASE
Authors: SUDARSKY L COUTINHO P
Citation: L. Sudarsky et P. Coutinho, MACHADO-JOSEPH DISEASE, Clinical neuroscience, 3(1), 1995, pp. 17-22
MACHADO-JOSEPH DISEASE IS GENETICALLY DIFFERENT FROM HOLGUIN DOMINANTATAXIA (SCA2)
Authors: SILVEIRA I MANAIA A MELKI J MAGARINO C LUNKES A HERNANDEZ A GISPERT S BURLET P ROZET JM COUTINHO P LOUREIRO JEL GUIMARAES J AUBURGER G MUNNICH A SEQUEIROS J
Citation: I. Silveira et al., MACHADO-JOSEPH DISEASE IS GENETICALLY DIFFERENT FROM HOLGUIN DOMINANTATAXIA (SCA2), Genomics, 17(3), 1993, pp. 556-559
MITOCHONDRIAL-DNA ANALYSIS IN OCULAR MYOPATHY - OBSERVATIONS IN 29 PORTUGUESE PATIENTS
Authors: VILARINHO L SANTORELLI FM CARDOSO ML COELHO T GUIMARAES A COUTINHO P
Citation: L. Vilarinho et al., MITOCHONDRIAL-DNA ANALYSIS IN OCULAR MYOPATHY - OBSERVATIONS IN 29 PORTUGUESE PATIENTS, European neurology, 39(3), 1998, pp. 148-153
MOLECULAR STUDIES OF THE CAG REPEAT IN MJD-CORRELATION WITH CLINICAL PRESENTATION AND ANTICIPATION
Authors: MACIEL P DESTEFANO AL GASPAR C COUTINHO P RADVANY J DAWSON DM SUDARSKY L ROSENBERG RN MACLEOD P FARRER LA SEQUEIROS J ROULEAU GA
Citation: P. Maciel et al., MOLECULAR STUDIES OF THE CAG REPEAT IN MJD-CORRELATION WITH CLINICAL PRESENTATION AND ANTICIPATION, American journal of human genetics, 57(4), 1995, pp. 1421-1421
ORIGINS OF A MUTATION - POPULATION-GENETICS OF MACHADO-JOSEPH-DISEASEIN THE AZORES (PORTUGAL)
Authors: LIMA M MAYER FM COUTINHO P ABADE A
Citation: M. Lima et al., ORIGINS OF A MUTATION - POPULATION-GENETICS OF MACHADO-JOSEPH-DISEASEIN THE AZORES (PORTUGAL), Human biology, 70(6), 1998, pp. 1011-1023
PANCREATIC MUCINOUS DUCTAL ECTASIA
Authors: NEVES C COUTINHO P RAMOS R COSTA F CONRADO T
Citation: C. Neves et al., PANCREATIC MUCINOUS DUCTAL ECTASIA, British Journal of Surgery, 85, 1998, pp. 140-140
PHENOTYPE OF AUTOSOMAL-DOMINANT SPASTIC PARAPLEGIA LINKED TO CHROMOSOME-2
Authors: DURR A DAVOINE CS PATERNOTTE C VONFELLENBERG J COGILNICEAN S COUTINHO P LAMY C BOURGEOIS S PRUDHOMME JF PENET C MAS JL BURGUNDER JM HAZAN J WEISSENBACH J BRICE A FONTAINE B
Citation: A. Durr et al., PHENOTYPE OF AUTOSOMAL-DOMINANT SPASTIC PARAPLEGIA LINKED TO CHROMOSOME-2, Brain, 119, 1996, pp. 1487-1496
Risultati: 1-25 | 26-31