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Results: 1-17 |
Results: 17
MISSENSE MUTATIONS IN DESMIN ASSOCIATED WITH FAMILIAL CARDIAC AND SKELETAL MYOPATHY
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
FECAL ATROPHY OF THE MULTIFIDUS MUSCLE IN LUMBOSACRAL RADICULOPATHY
Authors: CAMPBELL WW VASCONCELOS O LAINE FJ
Citation: Ww. Campbell et al., FECAL ATROPHY OF THE MULTIFIDUS MUSCLE IN LUMBOSACRAL RADICULOPATHY, Muscle & nerve, 21(10), 1998, pp. 1350-1353
HEPATIC PNEUMOCYSTOSIS WITHOUT CONCOMITANT PCP IN A PATIENT WITH AIDS
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
MUSCLE PHOSPHOFRUCTOKINASE DEFICIENCY - REPLY
Authors: SIVAKUMAR K VASCONCELOS O GOLDFARB L DALAKAS MC
Citation: K. Sivakumar et al., MUSCLE PHOSPHOFRUCTOKINASE DEFICIENCY - REPLY, Neurology, 49(3), 1997, pp. 899-899
HAPLOTYPE ANALYSIS INDICATES AN INDEPENDENT ORIGIN OF A MACHADO-JOSEPH DISEASE ALLELE IN AN AFRICAN-AMERICAN FAMILY
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
UNSTABLE TRIPLET REPEAT AND PHENOTYPIC VARIABILITY OF SPINOCEREBELLARATAXIA TYPE-1
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
PERCEIVED SOMATOTYPE AS INDICATOR OF ACCURACY OF BODY-IMAGE, A METHODUSING SOMATOTYPE ATTITUDINAL DISTANCE
Authors: SOBRAL F VASCONCELOS O
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
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
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
MUTATIONS IN AMERICAN FAMILIES WITH SPINOCEREBELLAR ATAXIA (SCA) TYPE-3 - SCA3 IS ALLELIC TO MACHADO-JOSEPH DISEASE
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
EXON-16 AND EXON-17 OF THE AMYLOID PRECURSOR PROTEIN GENE IN FAMILIALINCLUSION-BODY MYOPATHY
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
NOVEL INTRONIC RETENTION IN M-SUBUNIT TRANSCRIPTS OF 3 ASHKENAZI JEWSWITH TARUIS-DISEASE
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
CORRELATION BETWEEN THE CAG TRIPLET REPEAT NUMBER AND PHENOTYPIC VARIABILITY OF SPINOCEREBELLAR ATAXIA TYPE-1 IN THE IAKUT PEOPLE OF SIBERIA
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
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
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
VISCERAL LEISHMANIASIS IN A PATIENT INFEC TED WITH HIV-2
Authors: CASTRO RSE HORTA AA VASCONCELOS O COELHO H GRANATO C MARQUES AR
Citation: Rse. Castro et al., VISCERAL LEISHMANIASIS IN A PATIENT INFEC TED WITH HIV-2, Revista Clinica Espanola, 195(8), 1995, pp. 591-592
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
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
GENETIC AND CLINICAL-ASSESSMENT OF THE AUTOSOMAL-DOMINANT CEREBELLAR ATAXIAS
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
ASYMMETRIES OF MANUAL MOTOR RESPONSE IN RELATION TO AGE, SEX, HANDEDNESS, AND OCCUPATIONAL ACTIVITIES
Authors: VASCONCELOS O
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
Risultati: 1-17 |