Authors:
GOLDFARB LG
PARK KY
CERVENAKOVA L
GOROKHOVA S
LEE HS
VASCONCELOS O
NAGLE JW
SEMINOMORA C
SIVAKUMAR K
DALAKAS MC
Citation: Lg. Goldfarb et al., MISSENSE MUTATIONS IN DESMIN ASSOCIATED WITH FAMILIAL CARDIAC AND SKELETAL MYOPATHY, Nature genetics, 19(4), 1998, pp. 402-403
Authors:
CASTRO RSE
VASCONCELOS O
CARNEIRO F
ROCHAMARQUES A
Citation: Rse. Castro et al., HEPATIC PNEUMOCYSTOSIS WITHOUT CONCOMITANT PCP IN A PATIENT WITH AIDS, The Journal of infection, 34(3), 1997, pp. 257-259
Authors:
CHABRASHVILI TZ
VASCONCELOS O
MASSAQUOI S
GOLDFARB LG
Citation: Tz. Chabrashvili et al., HAPLOTYPE ANALYSIS INDICATES AN INDEPENDENT ORIGIN OF A MACHADO-JOSEPH DISEASE ALLELE IN AN AFRICAN-AMERICAN FAMILY, Annals of neurology, 40(3), 1996, pp. 166-166
Authors:
GOLDFARB LG
VASCONCELOS O
PLATONOV FA
LUNKES A
KIPNIS V
KONONOVA S
CHABRASHVILI T
VLADIMIRTSEV VA
ALEXEEV VP
GAJDUSEK DC
Citation: Lg. Goldfarb et al., UNSTABLE TRIPLET REPEAT AND PHENOTYPIC VARIABILITY OF SPINOCEREBELLARATAXIA TYPE-1, Annals of neurology, 39(4), 1996, pp. 500-506
Citation: F. Sobral et O. Vasconcelos, PERCEIVED SOMATOTYPE AS INDICATOR OF ACCURACY OF BODY-IMAGE, A METHODUSING SOMATOTYPE ATTITUDINAL DISTANCE, Perceptual and motor skills, 82(3), 1996, pp. 1107-1110
Authors:
SIVAKUMAR K
VASCONCELOS O
GOLDFARB L
DALAKAS MC
Citation: K. Sivakumar et al., LATE-ONSET MUSCLE WEAKNESS IN PARTIAL PHOSPHOFRUCTOKINASE DEFICIENCY - A UNIQUE MYOPATHY WITH VACUOLES, ABNORMAL MITOCHONDRIA, AND ABSENCE OF THE COMMON EXON-5 INTRON-5 JUNCTION POINT MUTATION, Neurology, 46(5), 1996, pp. 1337-1342
Authors:
HIGGINS JJ
NEE LE
VASCONCELOS O
IDE SE
LAVEDAN C
GOLDFARB LG
POLYMEROPOULOS MH
Citation: Jj. Higgins et al., MUTATIONS IN AMERICAN FAMILIES WITH SPINOCEREBELLAR ATAXIA (SCA) TYPE-3 - SCA3 IS ALLELIC TO MACHADO-JOSEPH DISEASE, Neurology, 46(1), 1996, pp. 208-213
Authors:
SIVAKUMAR K
CERVENAKOVA L
DALAKAS MC
LEONMONZON M
ISAACSON SH
NAGLE JW
VASCONCELOS O
GOLDFARB LG
Citation: K. Sivakumar et al., EXON-16 AND EXON-17 OF THE AMYLOID PRECURSOR PROTEIN GENE IN FAMILIALINCLUSION-BODY MYOPATHY, Annals of neurology, 38(2), 1995, pp. 267-269
Authors:
VASCONCELOS O
SIVAKUMAR K
DALAKAS MC
NAGLE J
QUEZADO M
GOLDFARB LG
Citation: O. Vasconcelos et al., NOVEL INTRONIC RETENTION IN M-SUBUNIT TRANSCRIPTS OF 3 ASHKENAZI JEWSWITH TARUIS-DISEASE, Annals of neurology, 38(2), 1995, pp. 307-307
Authors:
GOLDFARB L
VASCONCELOS O
PLATONOV F
LUNKES O
NAGLE J
KONONOVA S
VLADIMIRTSEV V
DUBNICK M
ALEXEEV V
GAJDUSEK DC
Citation: L. Goldfarb et al., CORRELATION BETWEEN THE CAG TRIPLET REPEAT NUMBER AND PHENOTYPIC VARIABILITY OF SPINOCEREBELLAR ATAXIA TYPE-1 IN THE IAKUT PEOPLE OF SIBERIA, Annals of neurology, 38(2), 1995, pp. 326-326
Authors:
VASCONCELOS O
SIVAKUMAR K
DALAKAS MC
QUEZADO M
NAGLE J
LEONMONZON M
DUBNICK M
GAJDUSEK DC
GOLDFARB LG
Citation: O. Vasconcelos et al., NONSENSE MUTATION IN THE PHOSPHOFRUCTOKINASE MUSCLE SUBUNIT GENE ASSOCIATED WITH RETENTION OF INTRON-10 IN ONE OF THE ISOLATED TRANSCRIPTS IN ASHKENAZI-JEWISH PATIENTS WITH TARUI DISEASE, Proceedings of the National Academy of Sciences of the United Statesof America, 92(22), 1995, pp. 10322-10326
Authors:
VASCONCELOS O
SIVAKUMAR K
OUEZADO M
NAGLE J
MONZON M
DUBNICK M
DALAKAS MC
GAJDUSEK DC
GOLDFARB LG
Citation: O. Vasconcelos et al., A NONSENSE MUTATION IN THE HUMAN PHOSPHOFRUCTOKINASE MUSCLE-SUBUNIT GENE ASSOCIATES WITH EXPRESSION OF MESSENGER-RNA SPECIES RETAINING INTRON-10 IN 3 ASHKENAZI JEWISH PATIENTS WITH GLYCOGENOSIS TYPE-VII, American journal of human genetics, 57(4), 1995, pp. 1053-1053
Authors:
HIGGINS JJ
VASCONCELOS O
NEE L
GOLDFARB L
Citation: Jj. Higgins et al., GENETIC AND CLINICAL-ASSESSMENT OF THE AUTOSOMAL-DOMINANT CEREBELLAR ATAXIAS, Neurology, 44(4), 1994, pp. 10000294-10000295
Citation: O. Vasconcelos, ASYMMETRIES OF MANUAL MOTOR RESPONSE IN RELATION TO AGE, SEX, HANDEDNESS, AND OCCUPATIONAL ACTIVITIES, Perceptual and motor skills, 77(2), 1993, pp. 691-700