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L G Goldfarb

Showing results (41-50 of 91) with videos related to

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Neurology|January 1, 1996
Mutations in American families with spinocerebellar ataxia (SCA) type 3: SCA3 is allelic to Machado-Joseph diseaseJ J Higgins, L E Nee, O Vasconcelos, et al.
Journal of the Neurological Sciences|October 11, 1991
The molecular genetics of familial Creutzfeldt-Jakob disease in FranceP Brown, L G Goldfarb, F Cathala, et al.
Annals of Neurology|March 11, 1992
Phenotypic characteristics of familial Creutzfeldt-Jakob disease associated with the codon 178Asn PRNP mutationP Brown, L G Goldfarb, J Kovanen, et al.
Journal of the Neurological Sciences|January 8, 1999
Autosomal dominant distal spinal muscular atrophy type V (dSMA-V) and Charcot-Marie-Tooth disease type 2D (CMT2D) segregate within a single large kindred and map to a refined region on chromosome 7p15N Sambuughin, K Sivakumar, B Selenge, et al.
Experimental Neurology|April 1, 1994
Autosomal dominant spinocerebellar ataxia (SCA) in a Siberian founder population: assignment to the SCA1 locusA Lunkes, L G Goldfarb, F A Platonov, et al.
Lancet (London, England)|February 16, 1991
New mutation in scrapie amyloid precursor gene (at codon 178) in Finnish Creutzfeldt-Jakob kindredL G Goldfarb, M Haltia, P Brown, et al.
Journal of the Neurological Sciences|September 11, 1992
An insert mutation in the chromosome 20 amyloid precursor gene in a Gerstmann-Sträussler-Scheinker familyL G Goldfarb, P Brown, A Vrbovská, et al.
Clinical Genetics|September 5, 2001
Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry diseaseG M Altarescu, L G Goldfarb, K Y Park, et al.
Neurology|June 11, 1992
Transmission of spongiform encephalopathy from a familial Creutzfeldt-Jakob disease patient of Jewish Libyan origin carrying the PRNP codon 200 mutationJ Chapman, P Brown, J M Rabey, et al.
Annals of Neurology|August 1, 1995
Exons 16 and 17 of the amyloid precursor protein gene in familial inclusion body myopathyK Sivakumar, L Cervenáková, M C Dalakas, et al.
Pageof 10

Showing results (41-50 of 91) with videos related to

Sort By:
Pageof 10
Neurology|January 1, 1996
Mutations in American families with spinocerebellar ataxia (SCA) type 3: SCA3 is allelic to Machado-Joseph diseaseJ J Higgins, L E Nee, O Vasconcelos, et al.
Journal of the Neurological Sciences|October 11, 1991
The molecular genetics of familial Creutzfeldt-Jakob disease in FranceP Brown, L G Goldfarb, F Cathala, et al.
Annals of Neurology|March 11, 1992
Phenotypic characteristics of familial Creutzfeldt-Jakob disease associated with the codon 178Asn PRNP mutationP Brown, L G Goldfarb, J Kovanen, et al.
Journal of the Neurological Sciences|January 8, 1999
Autosomal dominant distal spinal muscular atrophy type V (dSMA-V) and Charcot-Marie-Tooth disease type 2D (CMT2D) segregate within a single large kindred and map to a refined region on chromosome 7p15N Sambuughin, K Sivakumar, B Selenge, et al.
Experimental Neurology|April 1, 1994
Autosomal dominant spinocerebellar ataxia (SCA) in a Siberian founder population: assignment to the SCA1 locusA Lunkes, L G Goldfarb, F A Platonov, et al.
Lancet (London, England)|February 16, 1991
New mutation in scrapie amyloid precursor gene (at codon 178) in Finnish Creutzfeldt-Jakob kindredL G Goldfarb, M Haltia, P Brown, et al.
Journal of the Neurological Sciences|September 11, 1992
An insert mutation in the chromosome 20 amyloid precursor gene in a Gerstmann-Sträussler-Scheinker familyL G Goldfarb, P Brown, A Vrbovská, et al.
Clinical Genetics|September 5, 2001
Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry diseaseG M Altarescu, L G Goldfarb, K Y Park, et al.
Neurology|June 11, 1992
Transmission of spongiform encephalopathy from a familial Creutzfeldt-Jakob disease patient of Jewish Libyan origin carrying the PRNP codon 200 mutationJ Chapman, P Brown, J M Rabey, et al.
Annals of Neurology|August 1, 1995
Exons 16 and 17 of the amyloid precursor protein gene in familial inclusion body myopathyK Sivakumar, L Cervenáková, M C Dalakas, et al.
Pageof 10