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Results: 1-17 |
Results: 17
TAGUS VALLEY - AN EXPERIENCE OF COMMUNITY-BASED PREDICTIVE TESTING INA NEW LARGE FOCUS OF MACHADO-JOSEPH-DISEASE (MJD) IN PORTUGAL
Authors: COUTINHO P SILVA M SILVA MR LEDO S ROCHA JC BARROS J LOUREIRO JL GUIMARAES J CHORAO R RIBEIRO P BETTENCOURT M MACIEL P SILVEIRA I SERRANO P SILVA C FLEMING M SEQUEIROS J
Citation: P. Coutinho et al., TAGUS VALLEY - AN EXPERIENCE OF COMMUNITY-BASED PREDICTIVE TESTING INA NEW LARGE FOCUS OF MACHADO-JOSEPH-DISEASE (MJD) IN PORTUGAL, European journal of human genetics, 6, 1998, pp. 1077-1077
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
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
FLUORODOPA AND RACLOPRIDE PET ANALYSIS OF PATIENTS WITH MACHADO-JOSEPH-DISEASE
Authors: SHINOTOH H THIESSEN B SNOW BJ HASHIMOTO S MACLEOD P SILVEIRA I ROULEAU GA SCHULZER M CALNE DB
Citation: H. Shinotoh et al., FLUORODOPA AND RACLOPRIDE PET ANALYSIS OF PATIENTS WITH MACHADO-JOSEPH-DISEASE, Neurology, 49(4), 1997, pp. 1133-1136
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
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
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
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
LIMITS OF CLINICAL-ASSESSMENT IN THE ACCURATE DIAGNOSIS OF MACHADO-JOSEPH-DISEASE
Authors: LOPESCENDES I SILVEIRA I MACIEL P GASPER C RADVANY J CHITAYAT D BABUL R STEWART J DOLLIVER M ROBITAILLE Y ROULEAU GA SEQUEIROS J
Citation: I. Lopescendes et al., LIMITS OF CLINICAL-ASSESSMENT IN THE ACCURATE DIAGNOSIS OF MACHADO-JOSEPH-DISEASE, Archives of neurology, 53(11), 1996, pp. 1168-1174
ANALYSIS OF SCA1 AND DRPLA MUTATIONS IN A LARGE POPULATION OF SPINOCEREBELLAR ATAXIA PATIENTS
Authors: SILVEIRA I LOPESCENDES I KISH S STEINER CE PINTOJUNIOR W MACIEL JA BOTEZ MI ARRUDA W TIEVE H JAIN S SACK G RADVANY J ANDERMANN E SEQUIROS J ROULEAU GA
Citation: I. Silveira et al., ANALYSIS OF SCA1 AND DRPLA MUTATIONS IN A LARGE POPULATION OF SPINOCEREBELLAR ATAXIA PATIENTS, Neurology, 45(4), 1995, pp. 422-422
MOLECULAR DIAGNOSIS OF SCA1, DRPLA AND MJD MUTATIONS IN A LARGE GROUPOF ATAXIA PATIENTS
Authors: SILVEIRA I LOPESCENDES I SEQUEIROS J ROULEAU GA
Citation: I. Silveira et al., MOLECULAR DIAGNOSIS OF SCA1, DRPLA AND MJD MUTATIONS IN A LARGE GROUPOF ATAXIA PATIENTS, American journal of human genetics, 57(4), 1995, pp. 1317-1317
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
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
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
Risultati: 1-17 |