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Results: 1-25 | 26-50 | 51-52
Results: 26-50/52
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
FAMILIAL ALZHEIMERS-DISEASE ASSOCIATED WITH S182 CODON-286 MUTATION
Authors: CHAPMAN J ASHEROV A WANG NS TREVES TA KORCZYN AD GOLDFARB LG
Citation: J. Chapman et al., FAMILIAL ALZHEIMERS-DISEASE ASSOCIATED WITH S182 CODON-286 MUTATION, Lancet, 346(8981), 1995, pp. 1040-1040
THE TRANSMISSIBLE SPONGIFORM ENCEPHALOPATHIES
Authors: GOLDFARB LG BROWN P
Citation: Lg. Goldfarb et P. Brown, THE TRANSMISSIBLE SPONGIFORM ENCEPHALOPATHIES, Annual review of medicine, 46, 1995, pp. 57-65
CLINICAL AND GENETIC-STUDIES OF FATAL FAMILIAL INSOMNIA
Authors: REDER AT MEDNICK AS BROWN P SPIRE JP VANCAUTER E WOLLMANN RL CERENAKOVA L GOLDFARB LG GARAY A OVSIEW F GAJDUSEK DC ROOS RP
Citation: At. Reder et al., CLINICAL AND GENETIC-STUDIES OF FATAL FAMILIAL INSOMNIA, Neurology, 45(6), 1995, pp. 1068-1075
INFECTIOUS AMYLOID PRECURSOR GENE-SEQUENCES IN PRIMATES USED FOR EXPERIMENTAL TRANSMISSION OF HUMAN SPONGIFORM ENCEPHALOPATHY (VOL 91, PG 12159, 1994)
Authors: CERVENAKOVA L BROWN P GOLDFARB LG NAGLE J PETTRONE K RUBENSTEIN R DUBNICK M GIBBS CJ GAJDUSEK DC
Citation: L. Cervenakova et al., INFECTIOUS AMYLOID PRECURSOR GENE-SEQUENCES IN PRIMATES USED FOR EXPERIMENTAL TRANSMISSION OF HUMAN SPONGIFORM ENCEPHALOPATHY (VOL 91, PG 12159, 1994), Proceedings of the National Academy of Sciences of the United Statesof America, 92(8), 1995, pp. 3631-3631
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
VILYUISK ENCEPHALITIS - MORPHOLOGIC SPECTRUM OF DISEASE, INCLUDING DEMYELINATION FOLLOWING SELF-INOCULATION WITH CEREBROSPINAL-FLUID
Authors: MCLEAN CA MASTERS CL VLADIMIRTSEV VA PROKHOROVA IA GOLDFARB LG ASHER DM ALEKSEEV IP GAJDUSEK DC
Citation: Ca. Mclean et al., VILYUISK ENCEPHALITIS - MORPHOLOGIC SPECTRUM OF DISEASE, INCLUDING DEMYELINATION FOLLOWING SELF-INOCULATION WITH CEREBROSPINAL-FLUID, Journal of neuropathology and experimental neurology, 54(3), 1995, pp. 451-451
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
3 NEW PRNP GENOTYPES ASSOCIATED WITH FAMILIAL CREUTZFELDT-JAKOB-DISEASE
Authors: CERVENAKOVA L GOLDFARB LG BROWN P KENNEY K COCHRAN EJ BENNETT DA ROOS R GAJDUSEK DC
Citation: L. Cervenakova et al., 3 NEW PRNP GENOTYPES ASSOCIATED WITH FAMILIAL CREUTZFELDT-JAKOB-DISEASE, American journal of human genetics, 57(4), 1995, pp. 1207-1207
SEQUENCE-ANALYSIS OF THE PRNP GENE IN HEREDITARY INCLUSION-BODY MYOPATHY
Authors: CERVENAKOVA L SIVAKUMAR K NAGLE J ISAACSON S DALAKAS MC GOLDFARB LG
Citation: L. Cervenakova et al., SEQUENCE-ANALYSIS OF THE PRNP GENE IN HEREDITARY INCLUSION-BODY MYOPATHY, American journal of human genetics, 57(4), 1995, pp. 1939-1939
GENETIC-ANALYSIS OF CREUTZFELDT-JAKOB-DISEASE AND RELATED DISORDERS
Authors: GOLDFARB LG BROWN P CERVENAKOVA L GAJDUSEK DC
Citation: Lg. Goldfarb et al., GENETIC-ANALYSIS OF CREUTZFELDT-JAKOB-DISEASE AND RELATED DISORDERS, Philosophical transactions-Royal Society of London. Biological sciences, 343(1306), 1994, pp. 379-384
MOLECULAR-GENETIC STUDIES OF CREUTZFELDT-JAKOB-DISEASE
Authors: GOLDFARB LG BROWN P CERVENAKOVA L GAJDUSEK DC
Citation: Lg. Goldfarb et al., MOLECULAR-GENETIC STUDIES OF CREUTZFELDT-JAKOB-DISEASE, Molecular neurobiology, 8(2-3), 1994, pp. 89-97
A NOVEL MECHANISM OF PHENOTYPIC HETEROGENEITY DEMONSTRATED BY THE EFFECT OF A POLYMORPHISM ON A PATHOGENIC MUTATION IN THE PRNP (PRION PROTEIN GENE)
Authors: PETERSEN RB GOLDFARB LG TABATON M BROWN P MONARI L CORTELLI P MONTAGNA P AUTILIOGAMBETTI L GAJDUSEK DC LUGARESI E GAMBETTI P
Citation: Rb. Petersen et al., A NOVEL MECHANISM OF PHENOTYPIC HETEROGENEITY DEMONSTRATED BY THE EFFECT OF A POLYMORPHISM ON A PATHOGENIC MUTATION IN THE PRNP (PRION PROTEIN GENE), Molecular neurobiology, 8(2-3), 1994, pp. 99-103
HUMAN SPONGIFORM ENCEPHALOPATHY - THE NATIONAL-INSTITUTES-OF-HEALTH SERIES OF 300 CASES OF EXPERIMENTALLY TRANSMITTED DISEASE
Authors: BROWN P GIBBS CJ RODGERSJOHNSON P ASHER DM SULIMA MP BACOTE A GOLDFARB LG GAJDUSEK DC
Citation: P. Brown et al., HUMAN SPONGIFORM ENCEPHALOPATHY - THE NATIONAL-INSTITUTES-OF-HEALTH SERIES OF 300 CASES OF EXPERIMENTALLY TRANSMITTED DISEASE, Annals of neurology, 35(5), 1994, pp. 513-529
IDENTIFICATION OF A PRNP GENE MUTATION IN JAKOBS ORIGINAL CREUTZFELDT-JAKOB-DISEASE FAMILY
Authors: BROWN P CERVENAKOVA L BOELLAARD JW STAVROU D GOLDFARB LG GAJDUSEK DC
Citation: P. Brown et al., IDENTIFICATION OF A PRNP GENE MUTATION IN JAKOBS ORIGINAL CREUTZFELDT-JAKOB-DISEASE FAMILY, Lancet, 344(8915), 1994, pp. 130-131
MOLECULAR-GENETIC TESTING OF A FETUS AT RISK OF GERSTMANN-STRAUSSLER-SCHEINKER SYNDROME
Authors: BROWN P CERVENAKOVA L GOLDFARB LG GAJDUSEK DC HAVERKAMP A HAVERKAMP C HORWITZ J CREACY SD BEVER RA WEXLER P SUJANSKY E BJORK RJ
Citation: P. Brown et al., MOLECULAR-GENETIC TESTING OF A FETUS AT RISK OF GERSTMANN-STRAUSSLER-SCHEINKER SYNDROME, Lancet, 343(8890), 1994, pp. 181-182
FATAL INSOMNIA IN A CASE OF FAMILIAL CREUTZFELDT-JAKOB-DISEASE (CJD) WITH THE CODON 200(LYS) MUTATION
Authors: ARLAZOROFF A CHAPMAN J NEUFELD MY WERBER E KORCZYN AD GOLDFARB LG BROWN P GAJDUSEK DC GAMBETTI P
Citation: A. Arlazoroff et al., FATAL INSOMNIA IN A CASE OF FAMILIAL CREUTZFELDT-JAKOB-DISEASE (CJD) WITH THE CODON 200(LYS) MUTATION, Neurology, 44(4), 1994, pp. 10000219-10000219
FATAL FAMILIAL INSOMNIA (FFI)
Authors: MEDNICK AS REDER AT SPIRE JP VANCAUTER E BROWN P WOLLMANN RL GOLDFARB LG GARAY A OVSIEW F GAJDUSEK DC ROOS RP
Citation: As. Mednick et al., FATAL FAMILIAL INSOMNIA (FFI), Neurology, 44(4), 1994, pp. 10000285-10000286
IATROGENIC CREUTZFELDT-JAKOB-DISEASE - AN EXAMPLE OF THE INTERPLAY BETWEEN ANCIENT GENES AND MODERN MEDICINE
Authors: BROWN P CERVENAKOVA L GOLDFARB LG MCCOMBIE WR RUBENSTEIN R WILL RG POCCHIARI M MARTINEZLAGE JF SCALICI C MASULLO C GRAUPERA G LIGAN J GAJDUSEK DC
Citation: P. Brown et al., IATROGENIC CREUTZFELDT-JAKOB-DISEASE - AN EXAMPLE OF THE INTERPLAY BETWEEN ANCIENT GENES AND MODERN MEDICINE, Neurology, 44(2), 1994, pp. 291-293
FATAL FAMILIAL INSOMNIA AND FAMILIAL CREUTZFELDT-JAKOB-DISEASE - DIFFERENT PRION PROTEINS DETERMINED BY A DNA POLYMORPHISM
Authors: MONARI L CHEN SG BROWN P PARCHI P PETERSEN RB MIKOL J GRAY F CORTELLI P MONTAGNA P GHETTI B GOLDFARB LG GAJDUSEK DC LUGARESI E GAMBETTI P AUTILIOGAMBETTI L
Citation: L. Monari et al., FATAL FAMILIAL INSOMNIA AND FAMILIAL CREUTZFELDT-JAKOB-DISEASE - DIFFERENT PRION PROTEINS DETERMINED BY A DNA POLYMORPHISM, Proceedings of the National Academy of Sciences of the United Statesof America, 91(7), 1994, pp. 2839-2842
INFECTIOUS AMYLOID PRECURSOR GENE-SEQUENCES IN PRIMATES USED FOR EXPERIMENTAL TRANSMISSION OF HUMAN SPONGIFORM ENCEPHALOPATHY
Authors: CERVENAKOVA L BROWN P GOLDFARB LG NAGLE J PETTRONE K RUBENSTEIN R DUBNICK M GIBBS CJ GAJDUSEK DC
Citation: L. Cervenakova et al., INFECTIOUS AMYLOID PRECURSOR GENE-SEQUENCES IN PRIMATES USED FOR EXPERIMENTAL TRANSMISSION OF HUMAN SPONGIFORM ENCEPHALOPATHY, Proceedings of the National Academy of Sciences of the United Statesof America, 91(25), 1994, pp. 12159-12162
AUTOSOMAL-DOMINANT SPINOCEREBELLAR ATAXIA (SCA) IN A SIBERIAN FOUNDERPOPULATION - ASSIGNMENT TO THE SCA1 LOCUS
Authors: LUNKES A GOLDFARB LG PLATONOV FA ALEXEEV VP DUENASBARAJAS E GAJDUSEK DC AUBURGER G
Citation: A. Lunkes et al., AUTOSOMAL-DOMINANT SPINOCEREBELLAR ATAXIA (SCA) IN A SIBERIAN FOUNDERPOPULATION - ASSIGNMENT TO THE SCA1 LOCUS, Experimental neurology, 126(2), 1994, pp. 310-312
A NEW (2-REPEAT) OCTAPEPTIDE CODING INSERT MUTATION IN CREUTZFELDT-JAKOB-DISEASE
Authors: GOLDFARB LG BROWN P LITTLE BW CERVENAKOVA L KENNEY K GIBBS CJ GAJDUSEK DC
Citation: Lg. Goldfarb et al., A NEW (2-REPEAT) OCTAPEPTIDE CODING INSERT MUTATION IN CREUTZFELDT-JAKOB-DISEASE, Neurology, 43(11), 1993, pp. 2392-2394
SYNTHETIC PEPTIDES CORRESPONDING TO DIFFERENT MUTATED REGIONS OF THE AMYLOID GENE IN FAMILIAL CREUTZFELDT-JAKOB DISEASE SHOW ENHANCED INVITRO FORMATION OF MORPHOLOGICALLY DIFFERENT AMYLOID FIBRILS
Authors: GOLDFARB LG BROWN P HALTIA M GHISO J FRANGIONE B GAJDUSEK DC
Citation: Lg. Goldfarb et al., SYNTHETIC PEPTIDES CORRESPONDING TO DIFFERENT MUTATED REGIONS OF THE AMYLOID GENE IN FAMILIAL CREUTZFELDT-JAKOB DISEASE SHOW ENHANCED INVITRO FORMATION OF MORPHOLOGICALLY DIFFERENT AMYLOID FIBRILS, Proceedings of the National Academy of Sciences of the United Statesof America, 90(10), 1993, pp. 4451-4454
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