Creutzfeldt-Jakob disease in a patient with an R208H mutation of the prion protein gene (PRNP) and a 17-kDa prion protein fragment (original) (raw)
Novel Prion Protein Gene Mutation in an Octogenarian With Creutzfeldt-Jakob Disease
Ashley Fletcher
Archives of Neurology, 2000
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Creutzfeldt-Jakob disease associated with a deletion of two repeats in the prion protein gene
Robert Petersen
Neurology, 2002
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Creutzfeldt-Jakob disease associated with an R148H mutation of the prion protein gene
Inga Zerr
Neurogenetics, 2005
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Biochemical and Neuropathological Findings in a Creutzfeldt–Jakob Disease Patient with the Rare Val180Ile-129Val Haplotype in the Prion Protein Gene
Maurizio Pocchiari
International Journal of Molecular Sciences, 2022
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[A case of Creutzfeldt-Jakob disease with a point mutation of prion protein at codon 180]
Susumu Shirabe
Nō to shinkei = Brain and nerve, 2004
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Identification of three novel mutations (E196K, V203I, E211Q) in the prion protein gene (PRNP) in inherited prion diseases with Creutzfeldt-Jakob disease phenotype
Katell Peoc'H
Human Mutation, 2000
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Type 1 protease resistant prion protein and valine homozygosity at codon 129 of PRNP identify a subtype of sporadic Creutzfeldt-Jakob disease
Piero Parchi
Journal of Neurology, Neurosurgery & Psychiatry, 1999
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Diagnosis and Incidence of Prion (Creutzfeldt-Jakob) Disease: A Retrospective Archival Survey with Implications for Future Research
Stephen Gentleman
Neurodegeneration, 1995
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Familial Creutzfeldt-Jakob disease associated with a point mutation at codon 210 of the prion protein gene
Suely Marie
Arquivos de Neuro-Psiquiatria, 2001
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A new point mutation of the prion protein gene in Creutzfeldt-Jakob disease
Francesca Cutruzzola
Annals of Neurology, 1993
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Familial Creutzfeldt-Jakob disease with a novel 120-bp insertion in the prion protein gene
Inga Zerr
Annals of Neurology, 1999
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Novel Prion Protein Conformation and Glycotype in Creutzfeldt-Jakob Disease
Salvatore Monaco
Archives of Neurology, 2007
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Clinical features of genetic Creutzfeldt-Jakob disease with V180I mutation in the prion protein gene
Hiroyuki Murai, Tsuyoshi Hamaguchi, Hidehiro Mizusawa
BMJ Open, 2014
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Coexistence of protease sensitive and resistant prion protein in 129VV homozygous sporadic Creutzfeldt–Jakob disease: a case report
Joseba Garrido
Journal of Medical Case Reports, 2012
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Current concepts in human prion protein (Prp) misfolding, Prnp gene polymorphisms and their contribution to Creutzfeldt-Jakob Disease (CJD)
Mel Ziman
Histology and histopathology, 2007
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Sporadic Creutzfeldt-Jakob disease VM1: phenotypic and molecular characterization of a novel subtype of human prion disease
Piero Parchi
Acta Neuropathologica Communications
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Creutzfeldt-Jakob Disease (CJD) with a Mutation at Codon 148 of Prion Protein Gene
Wenquan Zou
The American Journal of Pathology, 2005
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Absence of protease‐resistant prion protein in the cerebrospinal fluid of Creutzfeldt–Jakob disease
Boon Seng Wong
The Journal of …, 2001
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Creutzfeldt-Jakob disease associated with a missense mutation at codon 200 of the prion protein gene in Brazil
Michele Landemberger
Dementia e Neuropsychologia
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Identification of Distinct N-terminal Truncated Forms of Prion Protein in Different Creutzfeldt-Jakob Disease Subtypes
G. Zanusso
Journal of Biological Chemistry, 2004
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Co-existence of scrapie prion protein types 1 and 2 in sporadic Creutzfeldt-Jakob disease: its effect on the phenotype and prion-type characteristics
Piero Parchi
Brain, 2009
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Mutation at codon 210 (V210I) of the prion protein gene in a North African patient with Creutzfeldt-Jakob disease
oussama taleb
Journal of the …, 1999
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A novel subtype of Creutzfeldt–Jakob disease characterized by a small 6 kDa PrP fragment
Inga Zerr
Acta Neuropathologica, 2007
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MM2-Thalamic Creutzfeldt-Jakob Disease: Neuropathological, Biochemical and Transmission Studies Identify a Distinctive Prion Strain
Antonio Indaco
Brain Pathology, 2012
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Inherited Creutzfeldt-Jakob disease in a British family associated with a novel 144 base pair insertion of the prion protein gene
Rajith de Silva
Journal of Neurology, Neurosurgery & Psychiatry, 1995
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Correlation of Polydispersed Prion Protein and Characteristic Pathology in the Thalamus in Variant Creutzfeldt-Jakob Disease: Implication of Small Oligomeric Species
Albrecht Gröner
Brain Pathology, 2011
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