scholarly journals Inherited prion disease with six octapeptide repeat insertional mutation--molecular analysis of phenotypic heterogeneity

Brain ◽  
2006 ◽  
Vol 129 (9) ◽  
pp. 2297-2317 ◽  
Author(s):  
S. Mead
Keyword(s):  
Molecular Analysis ◽  
Prion Disease ◽  
Phenotypic Heterogeneity ◽  
Insertional Mutation

A prion disease with a novel 96-base pair insertional mutation in the prion protein gene

Neurology ◽  
1996 ◽  
Vol 46 (3) ◽  
pp. 761-766 ◽  
Author(s):  
T. A. Campbell ◽  
M. S. Palmer ◽  
R. G. Will ◽  
W.R.G. Gibb ◽  
P. J. Luthert ◽  
...  
Keyword(s):  
Prion Protein ◽  
Prion Disease ◽  
Base Pair ◽  
Protein Gene ◽  
Prion Protein Gene ◽  
Insertional Mutation

scholarly journals Phenotypic heterogeneity and genetic modification of P102L inherited prion disease in an international series

Brain ◽  
2008 ◽  
Vol 131 (10) ◽  
pp. 2632-2646 ◽  
Author(s):  
T. E. F. Webb ◽  
M. Poulter ◽  
J. Beck ◽  
J. Uphill ◽  
G. Adamson ◽  
...  
Keyword(s):  
Prion Disease ◽  
Genetic Modification ◽  
Phenotypic Heterogeneity

scholarly journals Comprehensive Neuropathologic Analysis of Genetic Prion Disease Associated With the E196K Mutation inPRNPReveals Phenotypic Heterogeneity

2011 ◽  
Vol 70 (3) ◽  
pp. 192-200 ◽  
Author(s):  
Sabina Eigenbrod ◽  
Petra Frick ◽  
Armin Giese ◽  
Gabi Schelzke ◽  
Inga Zerr ◽  
...  
Keyword(s):  
Prion Disease ◽  
Phenotypic Heterogeneity

scholarly journals Prominent psychiatric features and early onset in an inherited prion disease with a new insertional mutation in the prion protein gene

Brain ◽  
1999 ◽  
Vol 122 (12) ◽  
pp. 2375-2386 ◽  
Author(s):  
Jean-Louis Laplanche ◽  
Khalid Hamid El Hachimi ◽  
Isabelle Durieux ◽  
Pascaline Thuillet ◽  
Luc Defebvre ◽  
...  
Keyword(s):  
Prion Protein ◽  
Prion Disease ◽  
Early Onset ◽  
Protein Gene ◽  
Prion Protein Gene ◽  
Insertional Mutation

scholarly journals Genotype-phenotype analysis in inherited prion disease with eight octapeptide repeat insertional mutation

Prion ◽  
2013 ◽  
Vol 7 (6) ◽  
pp. 501-510 ◽  
Author(s):  
Martin Paucar ◽  
Fengqing Xiang ◽  
Richard Moore ◽  
Ruth H Walker ◽  
Elisabeth Winnberg ◽  
...  
Keyword(s):  
Prion Disease ◽  
Insertional Mutation ◽  
Phenotype Analysis
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