scholarly journals The insomnia phenotype in genetic Creutzfeldt–Jakob disease based on the E200K mutation

Prion ◽  
2019 ◽  
Vol 13 (1) ◽  
pp. 77-82
Author(s):  
Eva Feketeova ◽  
Dominika Jarcuskova ◽  
Alzbeta Janakova ◽  
Marianna Vitkova ◽  
Jozef Dragasek ◽  
...  
Keyword(s):  
E200k Mutation ◽  
Jakob Disease

scholarly journals A case of Creutzfeldt-Jakob disease with E200K mutation presenting with hearing loss and central hypoventilation

2018 ◽  
Vol 58 (11) ◽  
pp. 673-676 ◽  
Author(s):  
Shinji Miyagawa ◽  
Taiji Mukai ◽  
Hiroshi Yaguchi
Keyword(s):  
Hearing Loss ◽  
E200k Mutation ◽  
Jakob Disease ◽  
Central Hypoventilation

Genetic Creutzfeldt-Jakob disease associated with the E200K mutation: characterization of a complex proteinopathy

2010 ◽  
Vol 121 (1) ◽  
pp. 39-57 ◽  
Author(s):  
Gabor G. Kovacs ◽  
Jérémie Seguin ◽  
Isabelle Quadrio ◽  
Romana Höftberger ◽  
István Kapás ◽  
...  
Keyword(s):  
E200k Mutation ◽  
Jakob Disease

3.057 MOVEMENT DISORDERS ARE PREVALENT IN PATIENTS WITH FAMILIAL CREUTZFELDT-JAKOB DISEASE (F-CJD) CARRYING THE E200K MUTATION

2012 ◽  
Vol 18 ◽  
pp. S183
Author(s):  
O. Cohen ◽  
I. Prohovnik ◽  
A.D. Korczyn ◽  
R. Inzelberg ◽  
Z. Nitsan ◽  
...  
Keyword(s):  
Movement Disorders ◽  
E200k Mutation ◽  
Jakob Disease

scholarly journals Complete Penetrance of Creutzfeldt-Jakob Disease in Libyan Jews Carrying the E200K Mutation in the Prion Protein Gene

1995 ◽  
Vol 1 (6) ◽  
pp. 607-613 ◽  
Author(s):  
Serena Spudich ◽  
James A. Mastrianni ◽  
Margaret Wrensch ◽  
Ruth Gabizon ◽  
Zeev Meiner ◽  
...  
Keyword(s):  
Prion Protein ◽  
Protein Gene ◽  
Prion Protein Gene ◽  
Complete Penetrance ◽  
E200k Mutation ◽  
Jakob Disease

Polymorphism at codon 129 ofPRNP affects the phenotypic expression of Creutzfeldt-Jakob disease linked to E200K mutation

2000 ◽  
Vol 48 (2) ◽  
pp. 269-270 ◽  
Author(s):  
Gianfranco Puoti ◽  
Giacomina Rossi ◽  
Giorgio Giaccone ◽  
Tazeen Awan ◽  
Patricia M.-J. Lievens ◽  
...  
Keyword(s):  
Phenotypic Expression ◽  
E200k Mutation ◽  
Jakob Disease ◽  
Codon 129

scholarly journals Familial Creutzfeldt-Jakob disease with E200K mutation presenting with neurosensorial hypoacusis

2007 ◽  
Vol 78 (1) ◽  
pp. 103-104 ◽  
Author(s):  
R Rene ◽  
J Campdelacreu ◽  
I Ferrer ◽  
A Escrig ◽  
M Povedano ◽  
...  
Keyword(s):  
E200k Mutation ◽  
Jakob Disease

scholarly journals Familial Creutzfeldt-Jakob disease with E200K mutation presenting with neurosensorial hypoacusis

2009 ◽  
Vol 2009 (jul07 1) ◽  
pp. bcr0620092006-bcr0620092006 ◽  
Author(s):  
R Rene ◽  
J Campdelacreu ◽  
I Ferrer ◽  
A Escrig ◽  
M Povedano ◽  
...  
Keyword(s):  
E200k Mutation ◽  
Jakob Disease

Properties of the Prion Proteins in Creutzfeldt Jakob Disease Patients Heterozygous for the E200K Mutation

1998 ◽  
pp. 291-295
Author(s):  
Ruth Gabizon ◽  
Glenn Telling ◽  
Zeev Meiner ◽  
Michele Halimi ◽  
Irit Kahana ◽  
...  
Keyword(s):  
Prion Proteins ◽  
E200k Mutation ◽  
Jakob Disease

A Patient Homozygous for the E200K Mutation from a Family of the Slovak Cluster of Genetic Creutzfeldt-Jakob Disease

2016 ◽  
Vol 79/112 (3) ◽  
pp. 336-342
Author(s):  
Eva Mitrová ◽  
Dana Slivarichová-Žáková ◽  
Dana Kosorínová ◽  
Silvia Koščová ◽  
Bronislava Berndtová ◽  
...  
Keyword(s):  
E200k Mutation ◽  
Jakob Disease
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