Literature DB >> 18568368

Global distribution of fatal familial insomnia: founder or recurrent mutations.

H-S Lee, L G Goldfarb.   

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Year:  2008        PMID: 18568368      PMCID: PMC2583437          DOI: 10.1007/s10048-008-0135-3

Source DB:  PubMed          Journal:  Neurogenetics        ISSN: 1364-6745            Impact factor:   2.660


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  3 in total

1.  Spontaneous mutations in the prion protein gene causing transmissible spongiform encephalopathy.

Authors:  Ayush Dagvadorj; Robert B Petersen; Hee Suk Lee; Larisa Cervenakova; Alexey Shatunov; Herbert Budka; Paul Brown; Pierluigi Gambetti; Lev G Goldfarb
Journal:  Ann Neurol       Date:  2002-09       Impact factor: 10.422

2.  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

3.  The BARD1 Cys557Ser variant and breast cancer risk in Iceland.

Authors:  Simon N Stacey; Patrick Sulem; Oskar T Johannsson; Agnar Helgason; Julius Gudmundsson; Jelena P Kostic; Kristleifur Kristjansson; Thora Jonsdottir; Helgi Sigurdsson; Jon Hrafnkelsson; Jakob Johannsson; Thorarinn Sveinsson; Gardar Myrdal; Hlynur Niels Grimsson; Jon T Bergthorsson; Laufey T Amundadottir; Jeffrey R Gulcher; Unnur Thorsteinsdottir; Augustine Kong; Kari Stefansson
Journal:  PLoS Med       Date:  2006-07       Impact factor: 11.069

  3 in total
  1 in total

1.  Clinical, histopathological and genetic studies in a case of fatal familial insomnia with review of the literature.

Authors:  Bin Peng; Shenqi Zhang; Hongjuan Dong; Zuneng Lu
Journal:  Int J Clin Exp Pathol       Date:  2015-09-01
  1 in total

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