An atypical phenotype of CJD associated with the E200K mutation in the prion protein gene

[1]  R. Fulbright,et al.  MR Imaging of Familial Creutzfeldt-Jakob Disease: A Blinded and Controlled Study , 2008, American Journal of Neuroradiology.

[2]  A. Aguzzi,et al.  Genetic prion disease: the EUROCJD experience , 2005, Human Genetics.

[3]  Ak Gupta,et al.  Creutzfeldt-Jakob disease - a case report , 2005 .

[4]  A. Korczyn,et al.  Creutzfeldt-Jacob disease associated with the PRNP codon 200LYS mutation: An analysis of 45 families , 1991, European Journal of Epidemiology.

[5]  S. Kan,et al.  Slowly progressive spread of the stroke-like lesions in MELAS , 2003, Neurology.

[6]  G. Macchi,et al.  Does PRNP gene control the clinical and pathological phenotype of human spongiform transmissible encephalopathies? , 2001, Clinical neuropathology.

[7]  P Brown,et al.  Classification of sporadic Creutzfeldt‐Jakob disease based on molecular and phenotypic analysis of 300 subjects , 1999, Annals of neurology.

[8]  H. Budka,et al.  A novel phenotype in familial Creutzfeldt‐Jakob disease: Prion protein gene E200K mutation coupled with valine at codon 129 and type 2 protease‐resistant prion protein , 1999, Annals of neurology.

[9]  P Brown,et al.  Ancestral origins and worldwide distribution of the PRNP 200K mutation causing familial Creutzfeldt-Jakob disease. , 1999, American journal of human genetics.

[10]  M. Pocchiari,et al.  High incidence of Creutzfeldt-Jakob disease in rural Calabria, Italy , 1998, The Lancet.

[11]  J. Chapman,et al.  The risk of developing Creutzfeldt‐Jakob disease in subjects with the PRNP gene codon 200 point mutation , 1994, Neurology.