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Results: 1-9 |
Results: 9
SPINOCEREBELLAR ATAXIA TYPE-2 - GENOTYPE AND PHENOTYPE IN GERMAN KINDREDS
Authors: SCHOLS L GISPERT S VORGERD M VIEIRASAECKER MM BLANKE P AUBURGER G AMOIRIDIS G MEVES S EPPLEN JT PRZUNTEK H PULST SM RIESS O
Citation: L. Schols et al., SPINOCEREBELLAR ATAXIA TYPE-2 - GENOTYPE AND PHENOTYPE IN GERMAN KINDREDS, Archives of neurology, 54(9), 1997, pp. 1073-1080
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
GENETIC-MAPPING OF THE SPINOCEREBELLAR ATAXIA-2 (SCA2) LOCUS ON CHROMOSOME-12Q23-Q24.1
Authors: HERNANDEZ A MAGARINO C GISPERT S SANTOS N LUNKES A OROZCO G HEREDERO L BECKMANN J AUBURGER G
Citation: A. Hernandez et al., GENETIC-MAPPING OF THE SPINOCEREBELLAR ATAXIA-2 (SCA2) LOCUS ON CHROMOSOME-12Q23-Q24.1, Genomics, 25(2), 1995, pp. 433-435
AUTOSOMAL-DOMINANT FAMILIAL SPASTIC PARAPLEGIA - REDUCTION OF THE FSPI CANDIDATE REGION ON CHROMOSOME 14Q TO 7-CM AND LOCUS HETEROGENEITY
Authors: GISPERT S SANTOS N DAMEN R VOIT T SCHULZ J KLOCKGETHER T OROZCO G KREUZ F WEISSENBACH J AUBURGER G
Citation: S. Gispert et al., AUTOSOMAL-DOMINANT FAMILIAL SPASTIC PARAPLEGIA - REDUCTION OF THE FSPI CANDIDATE REGION ON CHROMOSOME 14Q TO 7-CM AND LOCUS HETEROGENEITY, American journal of human genetics, 56(1), 1995, pp. 183-187
FREQUENCY OF DELTA-F508 MUTATION AND XV2C KM19 HAPLOTYPES IN CUBAN CYSTIC-FIBROSIS FAMILIES/
Authors: COLLAZO T MAGARINO C CHAVEZ R SUARDIAZ B GISPERT S GOMEZ M ROJO M HEREDERO L
Citation: T. Collazo et al., FREQUENCY OF DELTA-F508 MUTATION AND XV2C KM19 HAPLOTYPES IN CUBAN CYSTIC-FIBROSIS FAMILIES/, Human heredity, 45(1), 1995, pp. 55-57
RESULTS FROM A REFERENCE LABORATORY FOR PRENATAL-DIAGNOSIS OF SICKLE-CELL DISORDERS IN CUBA
Authors: GRANDA H GISPERT S MARTINEZ G GOMEZ M FERREIRA R COLLAZO T MAGARINO C HEREDERO L
Citation: H. Granda et al., RESULTS FROM A REFERENCE LABORATORY FOR PRENATAL-DIAGNOSIS OF SICKLE-CELL DISORDERS IN CUBA, Prenatal diagnosis, 14(8), 1994, pp. 659-662
CHROMOSOMAL ASSIGNMENT OF THE 2ND LOCUS FOR AUTOSOMAL-DOMINANT CEREBELLAR-ATAXIA (SCA2) TO CHROMOSOME 12Q23-24.1
Authors: GISPERT S TWELLS R OROZCO G BRICE A WEBER J HEREDERO L SCHEUFLER K RILEY B ALLOTEY R NOTHERS C HILLERMANN R LUNKES A KHATI C STEVANIN G HERNANDEZ A MAGARINO C KLOCKGETHER T DURR A CHNEIWEISS H ENCZMANN J FARRALL M BECKMANN J MULLAN M WERNET P AGID Y FREUND HJ WILLIAMSON R AUBURGER G CHAMBERLAIN S
Citation: S. Gispert et al., CHROMOSOMAL ASSIGNMENT OF THE 2ND LOCUS FOR AUTOSOMAL-DOMINANT CEREBELLAR-ATAXIA (SCA2) TO CHROMOSOME 12Q23-24.1, Nature genetics, 4(3), 1993, pp. 295-299
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
MOLECULAR HETEROGENEITY OF AUTOSOMAL-DOMINANT CEREBELLAR-ATAXIA - ANALYSIS OF FLANKING MICROSATELLITES OF THE SPINOCEREBELLAR ATAXIA-1 LOCUS IN A NORTHERN EUROPEAN FAMILY UNEQUIVOCALLY DEMONSTRATES NON-LINKAGE
Authors: LUNKES A GISPERT S ENCZMANN J AUBURGER G
Citation: A. Lunkes et al., MOLECULAR HETEROGENEITY OF AUTOSOMAL-DOMINANT CEREBELLAR-ATAXIA - ANALYSIS OF FLANKING MICROSATELLITES OF THE SPINOCEREBELLAR ATAXIA-1 LOCUS IN A NORTHERN EUROPEAN FAMILY UNEQUIVOCALLY DEMONSTRATES NON-LINKAGE, Human genetics, 91(4), 1993, pp. 362-366
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