Molecular genetics of human prion diseases in Germany

No abstract is available for this paper.

• Publication year

  1999

• Venue

  Human Genetics

• Publication date

  1999-09-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1007/s004399900124PMID 10987652
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Codon 178 mutation of the human prion protein gene in a German family (Backer family): sequencing data from 72-year-old celloidin-embedded brain tissue

  2004cited by this paper
• Polymorphisms of the Prion Protein gene in italian patients with Creutzfeldt-Jakob disease

  2004cited by this paper
• Differential allelic expression of PrP mRNA in carriers of the E200K mutation

  1997cited by this paper
• A prion-linked psychiatric disorder

  1997cited by this paper
• Transmissions to mice indicate that ‘new variant’ CJD is caused by the BSE agent

  1997cited by this paper
• Prion protein gene variation among primates.

  1997cited by this paper
• Familial spongiform encephalopathy associated with a novel prion protein gene mutation

  1997cited by this paper
• Prion diseases and the BSE crisis.

  1997cited by this paper
• Polymorphism at codon 129 of the prion protein gene determines cerebellar pathology in Creutzfeldt-Jakob disease.

  1996cited by this paper
• Molecular analysis of prion strain variation and the aetiology of 'new variant' CJD

  1996cited by this paper
• Mutation of the prion protein gene at codon 208 in familial Creutzfeldt-Jakob disease

  1996cited by this paper
• Genetic basis of Creutzfeldt-Jakob disease in the United Kingdom: a systematic analysis of predisposing mutations and allelic variation in the PRNP gene

  1996cited by this paper
• A new variant of Creutzfeldt-Jakob disease in the UK.

  1996cited by this paper
• Familial Creutzfeldt-Jakob disease with a five-repeat octapeptide insert mutation

  1996cited by this paper
• Diagnostic criteria for sporadic Creutzfeldt-Jakob disease.

  1996cited by this paper
• Sequence variation in intron of prion protein gene, crucial for complete diagnostic strategies

  1996cited by this paper
• Molecular basis of phenotypic variability in sporadc creudeldt‐jakob disease

  1996cited by this paper
• Prion disease associated with a novel nine octapeptide repeat insertion in the PRNP gene.

  1995cited by this paper
• Prion protein gene variation among primates.

  1995cited by this paper
• Gerstmann‐Sträussler‐Scheinker disease with mutation at codon 102 and methionine at codon 129 of PRNP in previously unreported patients

  1995cited by this paper
• Hypokinesia and presenile dementia in a Dutch family with a novel insertion in the prion protein gene.

  1995cited by this paper
• A candidate marsupial PrP gene reveals two domains conserved in mammalian PrP proteins.

  1995cited by this paper
• Tissue Handling in Suspected Creutzfeldt‐Jakob Disease (CJD) and Other Human Spongiform Encephalopathies (Prion Diseases)

  1995cited by this paper
• Molecular genetics of prion diseases in France

  1994cited by this paper
• Molecular genetics of prion diseases in France. French Research Group on Epidemiology of Human Spongiform Encephalopathies.

  1994cited by this paper
• A new point mutation of the prion protein gene in Creutzfeldt‐Jakob disease

  1993cited by this paper
• A new point mutation in the prion protein gene at codon 210 in Creutzfeldt‐Jakob disease

  1993cited by this paper
• Inherited prion disease with 144 base pair gene insertion. 2. Clinical and pathological features.

  1992cited by this paper
• Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism.

  1992cited by this paper
• Fatal familial insomnia, a prion disease with a mutation at codon 178 of the prion protein gene.

  1992cited by this paper
• Transmissible familial Creutzfeldt-Jakob disease associated with five, seven, and eight extra octapeptide coding repeats in the PRNP gene.

  1991cited by this paper
• New mutation in scrapie amyloid precursor gene (at codon 178) in Finnish Creutzfeldt-Jakob kindred.

  1991cited by this paper
• Homozygous prion protein genotype predisposes to sporadic Creutzfeldt–Jakob disease

  1991cited by this paper
• Creutzfeldt-Jacob disease associated with the PRNP codon 200LYS mutation: An analysis of 45 families

  1991cited by this paper
• Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms.

  1989cited by this paper
• Linkage of a prion protein missense variant to Gerstmann–Sträussler syndrome

  1989cited by this paper
• Mutations in familial Creutzfeldt-Jakob disease and Gerstmann-Sträussler-Scheinker's syndrome.

  1989cited by this paper
• Bovine spongiform encephalopathy: epidemiological studies

  1988cited by this paper
• A PvuII RFLP detected in the human prion protein (PrP) gene.

  1987cited by this paper
• Molecular Cloning of a Human Prion Protein cDNA

  1986cited by this paper
• Creutzfeldt‐Jakob disease: Patterns of worldwide occurrence and the significance of familial and sporadic clustering

  1979cited by this paper
• Creutzfeldt-Jakob Disease (Spongiform Encephalopathy): Transmission to the Chimpanzee

  1968cited by this paper
• Klinische und genealogische Beobachtungen bei einem Fall von spastischer Pseudosklerose Jakobs

  1930cited by this paper

• Repeat Expansion Disorders: Bridging the Gap.

  2022cites this paper
• Validation of Plasma and CSF Neurofilament Light Chain as an Early Marker for Sporadic Creutzfeldt-Jakob Disease

  2022cites this paper
• Genetic counseling for prion disease: Updates and best practices.

  2022cites this paper
• Genetic analysis reveals novel variants for vascular cognitive impairment

  2022cites this paper
• A Chinese patient with the clinical features of Parkinson’s disease contains a single copy of octarepeat deletion in PRNP case report

  2021cites this paper
• Diagnostic Accuracy of Prion Disease Biomarkers in Iatrogenic Creutzfeldt-Jakob Disease

  2020cites this paper
• Prionerkrankungen

  2020cites this paper
• A prognostic model for overall survival in sporadic Creutzfeldt‐Jakob disease

  2020cites this paper
• Plasma total prion protein as a potential biomarker for neurodegenerative dementia: diagnostic accuracy in the spectrum of prion diseases

  2020cites this paper
• Plasma YKL-40 in the spectrum of neurodegenerative dementia

  2019cites this paper
• Evaluation of Human Cerebrospinal Fluid Malate Dehydrogenase 1 as a Marker in Genetic Prion Disease Patients

  2019cites this paper
• Prion disease.

  2018cites this paper
• Genetic Creutzfeldt-Jakob disease.

  2018cites this paper
• Cerebrospinal fluid neurofilament light levels in neurodegenerative dementia: Evaluation of diagnostic accuracy in the differential diagnosis of prion diseases

  2018cites this paper
• Dominantly inherited prion protein cerebral amyloidoses - a modern view of Gerstmann-Sträussler-Scheinker.

  2018cites this paper
• Cerebrospinal Fluid Total Prion Protein in the Spectrum of Prion Diseases

  2018cites this paper
• Age of onset in genetic prion disease and the design of preventive clinical trials

  2018cites this paper
• Characterization of mutations in PRNP (prion) gene and their possible roles in neurodegenerative diseases

  2018cites this paper
• Regional and subtype-dependent miRNA signatures in sporadic Creutzfeldt-Jakob disease are accompanied by alterations in miRNA silencing machinery and biogenesis

  2018cites this paper
• Genetic PrP Prion Diseases.

  2018cites this paper
• Genetic prion disease: Experience of a rapidly progressive dementia center in the United States and a review of the literature

  2017cites this paper
• YKL-40 in the brain and cerebrospinal fluid of neurodegenerative dementias

  2017cites this paper
• Cerebrospinal fluid markers in the differentiation of molecular subtypes of sporadic Creutzfeldt−Jakob disease

  2016cites this paper
• Comparative analysis of cerebrospinal fluid biomarkers in the differential diagnosis of neurodegenerative dementia

  2016cites this paper
• Hereditary Human Prion Diseases: an Update

  2016cites this paper
• Quantifying penetrance in a dominant disease gene using large population control cohorts

  2016cites this paper
• Doxycycline in early CJD: a double-blinded randomised phase II and observational study

  2016cites this paper
• Quantifying prion disease penetrance using large population control cohorts

  2016cites this paper
• Diagnosis of Prion Diseases

  2016cites this paper
• Transmissible Spongiform Encephalopathies

  2016cites this paper
• Stratification by Genetic and Demographic Characteristics Improves Diagnostic Accuracy of Cerebrospinal Fluid Biomarkers in Rapidly Progressive Dementia

  2016cites this paper
• Familial Creutzfeldt-Jakob Disease: Case report and role of genetic counseling in post mortem testing

  2016cites this paper
• A signal with a difference: the role of GPI anchor signal sequence in dictating conformation and function of the Als5 adhesin in candida albicans.

  2015cites this paper
• Biochemical Roles of Eukaryotic Cell Surface Macromolecules

  2015cites this paper
• Cytosolically expressed PrP GPI-signal peptide interacts with mitochondria

  2015cites this paper
• Use of Drosophila in the investigation of sleep disorders.

  2015cites this paper
• Prions mediated neurodegenerative disorders.

  2015cites this paper
• Clinical findings and diagnosis in genetic prion diseases in Germany

  2015influential citation
• Modelling human prion replication in cell-free systems

  2014cites this paper
• Association of prion protein genotype and scrapie prion protein type with cellular prion protein charge isoform profiles in cerebrospinal fluid of humans with sporadic or familial prion diseases.

  2014cites this paper
• Genetic Studies in Human Prion Diseases

  2014cites this paper
• Characteristic CSF Prion Seeding Efficiency in Humans with Prion Diseases

  2014cites this paper
• The Fate of PrP GPI‐Anchor Signal Peptide is Modulated by P238S Pathogenic Mutation

  2014influential citation
• Ascertainment bias causes false signal of anticipation in genetic prion disease.

  2014cites this paper
• Filtration of protein aggregates increases the accuracy for diagnosing prion diseases in brain biopsies.

  2013cites this paper
• Clinical and familial characteristics of eight Chinese patients with T188K genetic Creutzfeldt-Jakob disease.

  2013cites this paper
• Report about Four Novel Mutations in the Prion Protein Gene

  2013cites this paper
• Prion Disease: A Tale of Folds and Strains

  2013cites this paper
• Spongiform encephalopathy in siblings with no evidence of protease-resistant prion protein or a mutation in the prion protein gene

  2013cites this paper
• Familial Prion Disease Cases Without Mutation in PRNPGene

  2013cites this paper
• PrP mRNA and protein expression in brain and PrPc in CSF in Creutzfeldt-Jakob disease MM1 and VV2

  2013cites this paper
• A proposal of new diagnostic pathway for fatal familial insomnia

  2013cites this paper
• Genetic susceptibility testing for neurodegenerative diseases: ethical and practice issues.

  2013cites this paper
• Influence of the pathogenic mutations T188K/R/A on the structural stability and misfolding of human prion protein: insight from molecular dynamics simulations.

  2012cites this paper
• Prion protein gene M232R variation is probably an uncommon polymorphism rather than a pathogenic mutation.

  2012cites this paper
• Hereditary form of prion disease in Poland.

  2012cites this paper
• Hereditary form of prion disease in Poland Postaæ dziedziczna choroby prionowej w

  2012influential citation
• Description and analysis of 12 years of surveillance for Creutzfeldt-Jakob disease in Denmark, 1997 to 2008.

  2012cites this paper
• Detergents modify proteinase K resistance of PrP Sc in different transmissible spongiform encephalopathies (TSEs).

  2012cites this paper
• Exposure and response of human non-neuronal cells to prions in vitro

  2012influential citation
• Neurogenetics: A Guide for Clinicians

  2012cites this paper
• Toward the molecular basis of inherited prion diseases: NMR structure of the human prion protein with V210I mutation.

  2011cites this paper
• Pros and cons of a prion-like pathogenesis in Parkinson's disease

  2011cites this paper
• Genetic prion disease with codon 196 PRNP mutation: clinical and pathological findings.

  2011cites this paper
• Entzündliche Erkrankungen

  2011cites this paper
• zur Erlangung des Doktorgrades der Medizinischen Fakultät der Georg-August-Universität zu Göttingen

  2011cites this paper
• Amyloid-β 1-42 Levels are Modified by Apolipoprotein E ε4 in Creutzfeldt-Jakob Disease in a Similar Manner as in Alzheimer's disease

  2011cites this paper
• Quantitative MRI in the diagnosis and monitoring of human prion diseases

  2010cites this paper
• Pathologic Evidence That the T188R Mutation in PRNP Is Associated With Prion Disease

  2010cites this paper
• Ovine reference materials and assays for prion genetic testing

  2010cites this paper
• Lack of Association between PRNP M129V Polymorphism and Multiple Sclerosis, Mild Cognitive Impairment, Alcoholism and Schizophrenia in a Korean Population

  2010cites this paper
• Polymorphisms of the Prion Protein Gene (PRNP) in a Serbian Population

  2010influential citation
• PrPSc complexity in different forms of Creutzfeldt-Jakob disease identified using biochemical approaches

  2010cites this paper
• The Prion Diseases

  2010cites this paper
• Codon 129 polymorphism and the E200K mutation do not affect the cellular prion protein isoform composition in the cerebrospinal fluid from patients with Creutzfeldt–Jakob disease

  2010cites this paper
• Open Access METHODOLOGY ARTICLE

  2010cites this paper
• Immunoekspresja białka LAMP2 w ośrodkowym układzie nerwowym u osób chorych na sporadyczną postać choroby Creutzfeldta-Jakoba (sCJD)

  2010cites this paper
• Clinical Features of Rapidly Progressive Alzheimer’s Disease

  2010cites this paper
• Differenzialdiagnose rasch progredienter Demenz

  2009cites this paper
• Function of PrPC (1-OPRD) in biological activities of gastric cancer cell lines

  2009cites this paper
• Total Prion Protein Levels in the Cerebrospinal Fluid are Reduced in Patients with Various Neurological Disorders

  2009cites this paper
• Molecular Pathology of Human Prion Diseases

  2009cites this paper
• Creutzfeldt–Jakob disease with E200K PRNP mutation: a case report and revision of the literature

  2009cites this paper
• Can copper binding to the prion protein generate a misfolded form of the protein?

  2009cites this paper
• A Potential Mechanism for Cu2+ Reduction, β-Cleavage, and β-Sheet Initiation Within The N-Terminal Domain of the Prion Protein: Insights from Density Functional Theory and Molecular Dynamics Calculations

  2009cites this paper
• The diagnostic efficiency of biomarkers in sporadic Creutzfeldt-Jakob disease compared to Alzheimer's disease.

  2009cites this paper
• Similarities between forms of sheep scrapie and Creutzfeldt-Jakob disease are encoded by distinct prion types.

  2009cites this paper
• 14-3-3 CSF levels in sporadic Creutzfeldt-Jakob disease differ across molecular subtypes.

  2009cites this paper
• MRI and clinical syndrome in dura materrelated Creutzfeldt-Jakob disease

  2009cites this paper
• Movement disturbances in the differential diagnosis of Creutzfeldt‐Jakob disease

  2009cites this paper
• Glial Fibrillary Acidic Protein and Protein S-100B: Different Concentration Pattern of Glial Proteins in Cerebrospinal Fluid of Patients with Alzheimer's Disease and Creutzfeldt-Jakob Disease

  2009cites this paper
• Visual Symptoms in the Heidenhain Variant of Creutzfeldt‐Jakob Disease

  2009cites this paper
• Human Prion disease with a T188K mutation in Chinese: a case report

  2009cites this paper
• Prion proteins: physiological functions and role in neurological disorders.

  2008cites this paper
• Novel PRNP mutation in a patient with a slow progressive dementia syndrome.

  2008cites this paper
• Evidence for a Pathogenic Role of Different Mutations at Codon 188 of PRNP

  2008influential citation
• Heightened incidence of sporadic Creutzfeldt-Jakob disease is associated with a shift in clinicopathological profiles

  2008cites this paper
• A molecular investigation of a mixed ancestry family displaying dementia and movement disorders

  2008cites this paper
• Pathogenic mutations in the glycosylphosphatidylinositol signal peptide of PrP modulate its topology in neuroblastoma cells.

  2008cites this paper
• ORIGINAL RESEARCH Isolated Cortical Signal Increase on MR Imaging as a Frequent Lesion Pattern in Sporadic Creutzfeldt-Jakob Disease

  2008cites this paper