ACNP - Italian Periodicals Catalogue

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Results: 1-25 | 26-50 | 51-52

Results: 1-25/52

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

ROUSSY-LEVY-SYNDROME IS ASSOCIATED WITH A DNA DUPLICATION ON CHROMOSOME 17P11.2

Authors: SAMBUUGHIN N KOFFMAN B DALAKAS MC SMITH ACM CERVENAKOVA L MECK J GARVEY M SYED N HALLETT M GOLDFARB LG

Citation: N. Sambuughin et al., ROUSSY-LEVY-SYNDROME IS ASSOCIATED WITH A DNA DUPLICATION ON CHROMOSOME 17P11.2, Annals of neurology, 44(3), 1998, pp. 116-116

A CLUSTER OF FAMILIAL AMYOTROPHIC-LATERAL-SCLEROSIS IN A BYELARUS FOUNDER POPULATION

Authors: CERVENAKOVA MD PROTAS II BROWN P TALLER I VOTIAKOV VI GAJDUSEK DC GOLDFARB LG

Citation: Md. Cervenakova et al., A CLUSTER OF FAMILIAL AMYOTROPHIC-LATERAL-SCLEROSIS IN A BYELARUS FOUNDER POPULATION, Annals of neurology, 44(3), 1998, pp. 119-119

VILIUISK ENCEPHALOMYELITIS - AN EMERGING CONTAGIOUS-DISEASE

Authors: GOLDFARB LG PLATONOV FA CERVENAKOVA L MCLEAN CL MASTERS C GAJDUSEK DC ALEXEEV VP KRIVOSHAPKIN VG

Citation: Lg. Goldfarb et al., VILIUISK ENCEPHALOMYELITIS - AN EMERGING CONTAGIOUS-DISEASE, Annals of neurology, 44(3), 1998, pp. 120-120

APOE IN NON-ALZHEIMER AMYLOIDOSES - TRANSMISSIBLE SPONGIFORM ENCEPHALOPATHIES

Authors: CHAPMAN J CERVENAKOVA L LEE HS ESTUPINAN J RICHARDSON S VNENCAKJONES CL GAJDUSEK DC KORCZYN AD BROWN P GOLDFARB LG

Citation: J. Chapman et al., APOE IN NON-ALZHEIMER AMYLOIDOSES - TRANSMISSIBLE SPONGIFORM ENCEPHALOPATHIES, Neurology, 51(2), 1998, pp. 548-553

SPINOCEREBELLAR ATAXIA TYPE-2 IN CHINA - MOLECULAR ANALYSIS AND GENOTYPE-PHENOTYPE CORRELATION IN 9 FAMILIES

Authors: ZHOU YX WANG GX TANG BS LI WD WANG DA LEE HS SAMBUUGHIN N ZHOU LS TSUJI S YANG BX GOLDFARB LG

Citation: Yx. Zhou et al., SPINOCEREBELLAR ATAXIA TYPE-2 IN CHINA - MOLECULAR ANALYSIS AND GENOTYPE-PHENOTYPE CORRELATION IN 9 FAMILIES, Neurology, 51(2), 1998, pp. 595-598

THE ALA53THR POINT MUTATION IN THE ALPHA-SYNUCLEIN GENE IS ABSENT IN ASHKENAZI JEWISH PATIENTS WITH FAMILIAL OR SPORADIC PARKINSONS-DISEASE

Authors: GOLDFARB LG LEE HS ISAACSON S CHAPMAN J GOROKHOVA S CERVENAKOVA L

Citation: Lg. Goldfarb et al., THE ALA53THR POINT MUTATION IN THE ALPHA-SYNUCLEIN GENE IS ABSENT IN ASHKENAZI JEWISH PATIENTS WITH FAMILIAL OR SPORADIC PARKINSONS-DISEASE, Neurology, 50(4), 1998, pp. 2105-2105

ANCESTRAL ORIGINS OF THE PRNP E200K MUTATION CAUSING FAMILIAL CREUTZFELDT-JAKOB-DISEASE

Authors: LEE HS SAMBUUGHIN N CERVENAKOVA L CHAPMAN J AVIV R POCCHIARI M KORCZYN A AVIV R GAJDUSEK C BROWN P LITVAK S GOLDFARB LG

Citation: Hs. Lee et al., ANCESTRAL ORIGINS OF THE PRNP E200K MUTATION CAUSING FAMILIAL CREUTZFELDT-JAKOB-DISEASE, Neurology, 50(4), 1998, pp. 3124-3124

AUTOSOMAL-DOMINANT DISTAL SPINAL MUSCULAR ATROPHY CHARCOT-MARIE-TOOTHTYPE-2 DISEASE IN A MONGOLIAN KINDRED MAPS TO A 3 CM REGION ON CHROMOSOME 7P15/

Authors: SAMBUUGHIN N SIVAKUMAR K SELENGE B FRIEDLICH D LEE HS BAASNAJAV D DALAKAS MC GOLDFARB LG

Citation: N. Sambuughin et al., AUTOSOMAL-DOMINANT DISTAL SPINAL MUSCULAR ATROPHY CHARCOT-MARIE-TOOTHTYPE-2 DISEASE IN A MONGOLIAN KINDRED MAPS TO A 3 CM REGION ON CHROMOSOME 7P15/, Neurology, 50(4), 1998, pp. 4119-4119

CREUTZFELDT-JAKOB-DISEASE IN A HUSBAND-AND-WIFE

Authors: BROWN P CERVENAKOVA L MCSHANE L GOLDFARB LG BISHOP K BASTIAN F KIRKPATRICK J PICCARDO P GHETTI B GAJDUSEK DC

Citation: P. Brown et al., CREUTZFELDT-JAKOB-DISEASE IN A HUSBAND-AND-WIFE, Neurology, 50(3), 1998, pp. 684-688

PHENOTYPE-GENOTYPE STUDIES IN KURU - IMPLICATIONS FOR NEW VARIANT CREUTZFELDT-JAKOB-DISEASE

Authors: CERVENAKOVA L GOLDFARB LG GARRUTO R LEE HS GAJDUSEK DC BROWN P

Citation: L. Cervenakova et al., PHENOTYPE-GENOTYPE STUDIES IN KURU - IMPLICATIONS FOR NEW VARIANT CREUTZFELDT-JAKOB-DISEASE, Proceedings of the National Academy of Sciences of the United Statesof America, 95(22), 1998, pp. 13239-13241

UNSTABLE 24-NUCLEOTIDE REPEAT EXPANSION IN TRANSMISSIBLE SPONGIFORM ENCEPHALOPATHIES

Authors: CERVENAKOVA L BROWN P GAJDUSEK DC GOLDFARB LG

Citation: L. Cervenakova et al., UNSTABLE 24-NUCLEOTIDE REPEAT EXPANSION IN TRANSMISSIBLE SPONGIFORM ENCEPHALOPATHIES, Annals of neurology, 42(3), 1997, pp. 3-3

VILIUISK ENCEPHALOMYELITIS - REVIEW OF THE SPECTRUM OF PATHOLOGICAL-CHANGES

Authors: MCLEAN CA MASTERS CL VLADIMIRTSEV VA PROKHOROVA IA GOLDFARB LG ASHER DM VLADIMIRTSEV AI ALEKSEEV VP GAJDUSEK DC

Citation: Ca. Mclean et al., VILIUISK ENCEPHALOMYELITIS - REVIEW OF THE SPECTRUM OF PATHOLOGICAL-CHANGES, Neuropathology and applied neurobiology, 23(3), 1997, pp. 212-217

MIXED FEATURES OF ALZHEIMER-DISEASE AND CREUTZFELDT-JAKOB-DISEASE IN A FAMILY WITH A PRESENILIN-1 MUTATION IN CHROMOSOME-14

Authors: ELHACHIMI KH CERVENAKOVA L BROWN P GOLDFARB LG RUBENSTEIN R GAJDUSEK DC FONCIN JF

Citation: Kh. Elhachimi et al., MIXED FEATURES OF ALZHEIMER-DISEASE AND CREUTZFELDT-JAKOB-DISEASE IN A FAMILY WITH A PRESENILIN-1 MUTATION IN CHROMOSOME-14, AMYLOID-INTERNATIONAL JOURNAL OF EXPERIMENTAL AND CLINICAL INVESTIGATION, 3(4), 1996, pp. 223-233

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

IS HEREDITARY INCLUSION-BODY MYOPATHY A FAMILIAL PRION DISEASE

Authors: CERVENAKOVA L SIVAKUMAR K NAGLE J DALAKAS MC GOLDFARB LG

Citation: L. Cervenakova et al., IS HEREDITARY INCLUSION-BODY MYOPATHY A FAMILIAL PRION DISEASE, Annals of neurology, 40(1), 1996, pp. 128-128

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

FAMILIAL ALZHEIMERS-DISEASE ASSOCIATED WITH S182 CODON-286 MUTATION (VOL 346, PG 1040, 1995)

Authors: CHAPMAN J KORCZYN AD GOLDFARB LG

Citation: J. Chapman et al., FAMILIAL ALZHEIMERS-DISEASE ASSOCIATED WITH S182 CODON-286 MUTATION (VOL 346, PG 1040, 1995), Lancet, 348(9021), 1996, pp. 206-206

FAMILIAL CREUTZFELDT-JAKOB-DISEASE WITH A 5-REPEAT OCTAPEPTIDE INSERTMUTATION

Authors: COCHRAN EJ BENNETT DA CERVENAKOVA L KENNEY K BERNARD B FOSTER NL BENSON DF GOLDFARB LG BROWN P

Citation: Ej. Cochran et al., FAMILIAL CREUTZFELDT-JAKOB-DISEASE WITH A 5-REPEAT OCTAPEPTIDE INSERTMUTATION, Neurology, 47(3), 1996, pp. 727-733

A SIMPLE AND EFFICIENT METHOD FOR APOLIPOPROTEIN-E GENOTYPE DETERMINATION

Authors: CHAPMAN J ESTUPINAN J ASHEROV A GOLDFARB LG

Citation: J. Chapman et al., A SIMPLE AND EFFICIENT METHOD FOR APOLIPOPROTEIN-E GENOTYPE DETERMINATION, Neurology, 46(5), 1996, pp. 1484-1485

FATAL INSOMNIA IN A CASE OF FAMILIAL CREUTZFELDT-JAKOB-DISEASE WITH THE CODON 200(LYS) MUTATION

Authors: CHAPMAN J ARLAZOROFF A GOLDFARB LG CERVENAKOVA L NEUFELD MY WERBER E HERBERT M BROWN P GAJDUSEK DC KORCZYN AD

Citation: J. Chapman et al., FATAL INSOMNIA IN A CASE OF FAMILIAL CREUTZFELDT-JAKOB-DISEASE WITH THE CODON 200(LYS) MUTATION, Neurology, 46(3), 1996, pp. 758-761

CELL-FREE EXPRESSION OF THE PRNP GENE CONTAINING A LARGE INSERT ASSOCIATED WITH CREUTZFELDT-JAKOB-DISEASE

Authors: BROWN P CHAPMAN J CERVENAKOVA L GOLDFARB LG KORCZYN AD

Citation: P. Brown et al., CELL-FREE EXPRESSION OF THE PRNP GENE CONTAINING A LARGE INSERT ASSOCIATED WITH CREUTZFELDT-JAKOB-DISEASE, Neurology, 46(2), 1996, pp. 1003-1003

FAMILIAL ALZHEIMERS-DISEASE IN ISRAEL ASSOCIATED WITH AN S182 CODON-286 MUTATION ON CHROMOSOME-14

Authors: CHAPMAN J ASHEROV A TREVES TA WANG NS KORCZYN AD GOLDFARB LG

Citation: J. Chapman et al., FAMILIAL ALZHEIMERS-DISEASE IN ISRAEL ASSOCIATED WITH AN S182 CODON-286 MUTATION ON CHROMOSOME-14, Neurology, 46(2), 1996, pp. 2063-2063

APOLIPOPROTEIN-E GENOTYPE IN HUMAN SPONGIFORM ENCEPHALOPATHIES

Authors: GOLDFARB LG CHAPMAN J BROWN P CERVENAKOVA L GAJDUSEK DC KORCZYN AD

Citation: Lg. Goldfarb et al., APOLIPOPROTEIN-E GENOTYPE IN HUMAN SPONGIFORM ENCEPHALOPATHIES, Neurology, 46(2), 1996, pp. 2064-2064

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

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