Lev G. Goldfarb

Overview

Best Publications

• Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism

  Lev G. Goldfarb;Robert B. Petersen;Massimo Tabaton;Paul Brown

  898
  Citations

• Glycyl tRNA Synthetase Mutations in Charcot-Marie-Tooth Disease Type 2D and Distal Spinal Muscular Atrophy Type V

  Anthony Antonellis;Anthony Antonellis;Rachel E. Ellsworth;Nyamkhishig Sambuughin;Imke Puls

  674
  Citations

• Apolipoprotein E ∈4 allele distributions in late-onset Alzheimer's disease and in other amyloid-forming diseases

  A. M. Saunders;A. D. Roses;M. A. Pericak-Vance;K. C. Dole

  650
  Citations

• Missense mutations in desmin associated with familial cardiac and skeletal myopathy

  Lev G. Goldfarb;Kye-Yoon Park;Larisa Cervenáková;Larisa Cervenáková;Svetlana Gorokhova

  596
  Citations

• Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course.

  Mary H Branton;Raphael Schiffmann;Sharda G Sabnis;Gary J Murray

  571
  Citations

• Desmin Myopathy, a Skeletal Myopathy with Cardiomyopathy Caused by Mutations in the Desmin Gene

  Marinos C. Dalakas;Kye-Yoon Park;Cristina Semino-Mora;Hee Suk Lee

  524
  Citations

• Transmissible familial Creutzfeldt-Jakob disease associated with five, seven, and eight extra octapeptide coding repeats in the PRNP gene

  L G Goldfarb;P Brown;W R McCombie;D Goldgaber

  426
  Citations

• Mutations in familial Creutzfeldt-Jakob disease and Gerstmann-Sträussler-Scheinker's syndrome

  Goldgaber D;Goldfarb Lg;Brown P;Asher Dm

  325
  Citations

• Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease

  Lev G. Goldfarb;Marinos C. Dalakas

  281
  Citations

• Mutation in codon 200 of scrapie amyloid protein gene in two clusters of Creutzfeldt-Jakob disease in Slovakia

  LevG. Goldfarb;Eva Mitrová;Paul Brown;Ban Hock Toh

  239
  Citations

• Mutation in codon 200 of scrapie amyloid precursor gene linked to Creutzfeldt-Jakob disease in Sephardic Jews of Libyan and non-libyan origin

  LevG. Goldfarb;AmosD. Korczyn;Paul Brown;Joab Chapman

  234
  Citations

• New mutation in scrapie amyloid precursor gene (at codon 178) in Finnish Creutzfeldt-Jakob kindred.

  L G Goldfarb;M Haltia;P Brown;A Nieto

  231
  Citations

• Distinct muscle imaging patterns in myofibrillar myopathies

  D. Fischer;R. A. Kley;K. Strach;C. Meyer

  227
  Citations

• Molecular and Clinical Correlations in Spinocerebellar Ataxia Type I: Evidence for Familial Effects on the Age at Onset

  Laura P.W. Ranum;Ming Yi Chung;Sandro Banfi;Alan Bryer

  220
  Citations

• Myotilinopathy : refining the clinical and myopathological phenotype

  Montse Olivé;Lev G Goldfarb;Alexey Shatunov;Dirk Fischer

  203
  Citations

• Phenotype-genotype studies in kuru: implications for new variant Creutzfeldt-Jakob disease.

  Cervenáková L;Goldfarb Lg;Garruto R;Lee Hs

  194
  Citations

• Iatrogenic Creutzfeldt‐Jakob disease An example of the interplay between ancient genes and modern medicine

  P. Brown;L. Cervenáková;L. G. Goldfarb;W. R. McCombie

  186
  Citations

• Screening of the entire ryanodine receptor type 1 coding region for sequence variants associated with malignant hyperthermia susceptibility in the north american population

  Nyamkhishig Sambuughin;Heather Holley;Sheila Muldoon;Barbara W. Brandom

  183
  Citations

• Creutzfeldt-Jacob disease associated with the PRNP codon 200LYS mutation: An analysis of 45 families

  L. G. Goldfarb;P. Brown;E. Mitrovà;L. Cervenáková

  183
  Citations

• Genomewide scans in North American families reveal genetic linkage of essential tremor to a region on chromosome 6p23.

  Alexey Shatunov;Nyamkhishig Sambuughin;Joseph Jankovic;Rodger Elble

  180
  Citations