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在“SpringerLink电子期刊”中，命中：20条，耗时：小于0.01 秒

1. Clinical radiological correlation in E200K familial Creutzfeldt–Jakob disease

作者： Oren S. Cohen ; Joab Chapman ; Amos D. Korczyn…

关键词：Cognitive decline ; Creutzfeldt–Jakob disease ; E200K mutation

刊名：Journal of Neural Transmission

出版年：2016

2. Characterization of sleep disorders in patients with E200K familial Creutzfeldt–Jakob disease

作者： Oren S. Cohen ; Joab Chapman ; Amos D. Korczyn ; Naama Warman-Alaluf…

关键词：Creutzfeldt–Jakob disease ; E200K mutation ; Polysomnography ; Conversion

刊名：Journal of Neurology

出版年：2015

3. Familial Creutzfeldt–Jakob disease with the E200K mutation: longitudinal neuroimaging from asymptomatic to symptomatic CJD

作者： Oren S. Cohen ; Joab Chapman ; Amos D. Korczyn ; Zeev Nitsan…

关键词：Creutzfeldt–Jakob disease ; Neuroimaging ; E200K mutation ; Conversion

刊名：Journal of Neurology

出版年：2015

4. Biological network inferences for a protection mechanism against familial Creutzfeldt-Jakob disease with E200K pathogenic mutation

作者：Sol Moe Lee (1) (3)
Myungguen Chung (2) (4)
Kyu Jam Hwang (1)
Young Ran Ju (1)
Jae Wook Hyeon (1)
Jun-Sun Park (1)
Chi-Kyeong Kim (1)
Sangho Choi (1)
Jeongmin Lee (1)
Su Yeon Kim (1)

1. Division of Zoonoses ; Center for Immunology and Pathology ; National Institute of Health ; Korea Center for Disease Control and Prevention ; Cheongju-si ; 363-700 ; Korea
3. Department of Agricultural Biotechnology ; Animal Biotechnology Major ; Seoul National University ; Seoul ; 151-921 ; Korea
2. Division of Bio-Medical Informatics ; Center for Genome Science ; National Institute of Health ; Korea Center for Disease Control and Prevention ; Cheongju-si ; 363-700 ; Korea
4. Division of Molecular and Life science ; Hanyang University ; Seoul ; 133-791 ; Korea

关键词：PRNP ; E200K ; dependent fCJD ; 85 ; year ; old non ; CJD individual with the E200K ; Whole exome sequencing ; Biological network analysis ; Candidate protective factor against fCJD with E200K

刊名：BMC Medical Genomics

出版年：2014

5. Clinical findings and diagnosis in genetic prion diseases in Germany

作者： Anna Krasnianski ; Uta Heinemann ; Claudia Ponto…

关键词：Prion disease ; Familial CJD ; M129V polymorphism ; PRNP mutation

刊名：European Journal of Epidemiology

出版年：2016

6. Towards authentic transgenic mouse models of heritable PrP prion diseases

作者： Joel C. Watts ; Kurt Giles ; Matthew E. C. Bourkas ; Smita Patel…

关键词：Prion ; Transgenic mice ; Creutzfeldt–Jakob ; Gerstmann–Sträussler–Scheinker ; Fatal familial insomnia

刊名：Acta Neuropathologica

出版年：2016

7. A pilot study of a genetic CJD risk factor (E200K) in the general Slovak population

作者：Eva Mitrová (1) (2)
Dana Kosorinová (1) (2)
Martin Gajdo? (1) (3)
Katarína ?ebeková (4)
Ivana Tome?ková (1) (2)

关键词：Creutzfeldt ; Jakob disease ; E200K ; Carriers ; Prevention

刊名：European Journal of Epidemiology

出版年：2014

8. Genetic CJD with a novel E200G mutation in the prion protein gene and comparison with E200K mutation cases

作者：Mee-Ohk Kim (1)
Ignazio Cali (2) (3)
Abby Oehler (4)
Jamie C Fong (1)
Katherine Wong (1)
Tricia See (1)
Jonathan S Katz (5)
Pierluigi Gambetti (2)
Brianne M Bettcher (1)
Stephen J DeArmond (4)
Michael D Geschwind (1)

关键词：Creutzfeldt ; Jakob disease ; E200K ; familial CJD ; Synaptic PrPSc ; Curvilinear PrPSc

刊名：Acta Neuropathologica Communications

出版年：2013

9. Characteristic CSF Prion Seeding Efficiency in Humans with Prion Diseases

作者： Maria Cramm ; Matthias Schmitz ; André Karch ; Saima Zafar…

关键词：Cerebrospinal fluid ; Creutzfeldt ; Jakob disease ; Premortem test ; Prion protein ; Real ; time quaking ; induced conversion assay

刊名：Molecular Neurobiology

出版年：2015

10. Codon 200 mutation of the prion gene: genotype–phenotype correlations

作者：Peter K. Panegyres (1)
Judy G. S. Goh (1)
Jack Goldblatt (2)

关键词：Codon E200K prion mutation ; PRNP Glu200Lys gene mutation ; Prion gene

刊名：Journal of Neurology

出版年：2012

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