Literature DB >> 10889050

Age and origin of the PRNP E200K mutation causing familial Creutzfeldt-Jacob disease in Libyan Jews.

R Colombo.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2000        PMID： 10889050      PMCID： PMC1287202          DOI： 10.1086/303021

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


× No keyword cloud information.
  15 in total

1.  Spongiform encephalopathy in an Israeli born to immigrants from Libya.

Authors:  P Nisipeanu; B el ad; A D Korczyn
Journal:  Lancet       Date:  1990-09-15       Impact factor: 79.321

Review 2.  Creutzfeldt-Jakob disease and related transmissible spongiform encephalopathies.

Authors:  R T Johnson; C J Gibbs
Journal:  N Engl J Med       Date:  1998-12-31       Impact factor: 91.245

3.  Ancestral origins and worldwide distribution of the PRNP 200K mutation causing familial Creutzfeldt-Jakob disease.

Authors:  H S Lee; N Sambuughin; L Cervenakova; J Chapman; M Pocchiari; S Litvak; H Y Qi; H Budka; T del Ser; H Furukawa; P Brown; D C Gajdusek; J C Long; A D Korczyn; L G Goldfarb
Journal:  Am J Hum Genet       Date:  1999-04       Impact factor: 11.025

4.  Creutzfeldt-Jacob disease associated with the PRNP codon 200Lys mutation: an analysis of 45 families.

Authors:  L G Goldfarb; P Brown; E Mitrovà; L Cervenáková; L Goldin; A D Korczyn; J Chapman; S Gálvez; L Cartier; R Rubenstein
Journal:  Eur J Epidemiol       Date:  1991-09       Impact factor: 8.082

5.  Mutation of human short tandem repeats.

Authors:  J L Weber; C Wong
Journal:  Hum Mol Genet       Date:  1993-08       Impact factor: 6.150

6.  Measuring the strength of associations between HLA antigens and diseases.

Authors:  B O Bengtsson; G Thomson
Journal:  Tissue Antigens       Date:  1981-11

7.  Letter: Creutzfeldt-Jakob disease: hypothesis for high incidence in Libyan Jews in Israel.

Authors:  L Herzberg; B N Herzberg; C J Gibbs; W Sullivan; H Amyx; D C Gajdusek
Journal:  Science       Date:  1974-11-29       Impact factor: 47.728

8.  Mutation of the prion protein in Libyan Jews with Creutzfeldt-Jakob disease.

Authors:  K Hsiao; Z Meiner; E Kahana; C Cass; I Kahana; D Avrahami; G Scarlato; O Abramsky; S B Prusiner; R Gabizon
Journal:  N Engl J Med       Date:  1991-04-18       Impact factor: 91.245

9.  New estimates of intergenerational time intervals for the calculation of age and origins of mutations.

Authors:  M Tremblay; H Vézina
Journal:  Am J Hum Genet       Date:  2000-02       Impact factor: 11.025

10.  Mutation and polymorphism of the prion protein gene in Libyan Jews with Creutzfeldt-Jakob disease (CJD).

Authors:  R Gabizon; H Rosenmann; Z Meiner; I Kahana; E Kahana; Y Shugart; J Ott; S B Prusiner
Journal:  Am J Hum Genet       Date:  1993-10       Impact factor: 11.025
View more
  5 in total

1.  Molecular evidence of founder effects of fatal familial insomnia through SNP haplotypes around the D178N mutation.

Authors:  Ana B Rodríguez-Martínez; Miguel A Alfonso-Sánchez; José A Peña; Raquel Sánchez-Valle; Inga Zerr; Sabina Capellari; Miguel Calero; Juan J Zarranz; Marian M de Pancorbo
Journal:  Neurogenetics       Date:  2008-03-18       Impact factor: 2.660

2.  Inherited forms of Creutzfeldt-Jakob disease.

Authors:  A J Degnan; L M Levy
Journal:  AJNR Am J Neuroradiol       Date:  2013-04-04       Impact factor: 3.825

3.  Identification and population history of CYP4V2 mutations in patients with Bietti crystalline corneoretinal dystrophy.

Authors:  Xiaodong Jiao; Anren Li; Zi-Bing Jin; Xinjing Wang; Alessandro Iannaccone; Elias I Traboulsi; Michael B Gorin; Francesca Simonelli; J Fielding Hejtmancik
Journal:  Eur J Hum Genet       Date:  2017-01-04       Impact factor: 4.246

4.  CLCC1 c. 75C>A Mutation in Pakistani Derived Retinitis Pigmentosa Families Likely Originated With a Single Founder Mutation 2,000-5,000 Years Ago.

Authors:  Yan Ma; Xun Wang; Nadav Shoshany; Xiaodong Jiao; Adrian Lee; Gregory Ku; Emma L Baple; James Fasham; Raheela Nadeem; Muhammad Asif Naeem; Sheikh Riazuddin; S Amer Riazuddin; Andrew H Crosby; J Fielding Hejtmancik
Journal:  Front Genet       Date:  2022-03-22       Impact factor: 4.599

5.  Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East.

Authors:  Lilia Romdhane; Rym Kefi; Hela Azaiez; Nizar Ben Halim; Koussay Dellagi; Sonia Abdelhak
Journal:  Orphanet J Rare Dis       Date:  2012-08-21       Impact factor: 4.123
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.