Compounds > valine

valine and Creutzfeldt-Jakob Syndrome

valine has been researched along with Creutzfeldt-Jakob Syndrome in 69 studies

Research

Studies (69)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's13 (18.84)18.2507
2000's33 (47.83)29.6817
2010's20 (28.99)24.3611
2020's3 (4.35)2.80

Authors

AuthorsStudies
Bolakhrif, N; Gohlke, H; Gremer, L; Kaiser, J; Nagel-Steger, L; Pauly, T; Willbold, D1
Appleby, BS; Cali, I; Cohen, ML; Cracco, L; Curtiss, PM; Gambetti, P; Kitamoto, T; Occhipinti, R; Puoti, G; Smucny, J1
Appleby, BS; Bharara Singh, A; Cali, I; Cracco, L; Gambetti, P; Lavrich, J; Nemani, SK; Nigro, M; Notari, S; Puoti, G; Sim, VL; Surewicz, WK; Xiao, X1
Akagi, A; Iwasaki, Y; Kitamoto, T; Mimuro, M; Yamada, M; Yoshida, M1
Hamaguchi, T; Hizume, M; Ito, Y; Kitamoto, T; Kobayashi, A; Mizusawa, H; Ohgami, T; Sanjo, N; Satoh, K; Yamada, M; Yokota, T1
Bélondrade, M; Bougard, D; Bruyère-Ostells, L; Fournier-Wirth, C; Green, AJE; Knight, RS; Lehmann, S; Mayran, C; Will, RG1
Brandel, JP; Cali, I; Cobb, BA; Gambetti, P; Haïk, S; Kitamoto, T; Kong, Q; Langeveld, J; Laplanche, JL; Laude, H; Li, B; Moudjou, M; Petersen, RB; Xiao, X; Yuan, J; Zhan, Y; Zou, WQ1
Boyd, A; Collins, SJ; Johanssen, V; Klug, G; Lewis, V; Li, QX; Masters, CL; McLean, C; Pamphlett, R; Simpson, M1
Di Fede, G; Finato, N; Fociani, P; Giaccone, G; Indaco, A; Marcon, G; Micoli, S; Moretti, V; Pincherle, A; Redaelli, V; Suardi, S; Tagliavini, F; Zerbi, P1
Beekes, M; Ebert, E; Lüllmann, K; Mitrova, E; Oikonomou, P; Schlomm, M; Schmitz, M; Wohlhage, M; Zafar, S; Zerr, I1
Furukawa, F; Ishibashi, S; Mizusawa, H; Sanjo, N; Yamashita, H1
Adlard, P; Bjurstrom, N; Brandner, S; Caine, D; Collinge, J; Druyeh, R; Hummerich, H; Hyare, H; Jaunmuktane, Z; Lowe, J; Mead, S; Norsworthy, P; Rudge, P; Wadsworth, JD1
Choi, YP; Head, MW; Ironside, JW; Moore, RA; Priola, SA; Pyo Choi, Y; Ritchie, DL; Zanusso, G1
Kitamoto, T; Kobayashi, A; Morita, M; Parchi, P; Takeuchi, A; Uno, S; Yamada, M1
Agrimi, U; Cardone, F; Di Bari, MA; Fiorini, M; Galeno, R; Graziano, S; Ingrosso, L; Ladogana, A; Monaco, S; Nonno, R; Pasini, G; Pocchiari, M; Poleggi, A; Puopolo, M; Sbriccoli, M; Valanzano, A; Vinci, R; Zanusso, G1
Pocchiari, M1
Capellari, S; Cras, P; Ghetti, B; Giese, A; Kretzschmar, H; Ladogana, A; Langeveld, JP; Notari, S; Parchi, P; Pocchiari, M; Roncaroli, F; Strammiello, R; Zerr, I1
Alshekhlee, A; Blevins, J; Cali, I; Castellani, R; Cohen, Y; Gambetti, P; Langeveld, JP; Parchi, P; Safar, JG; Yuan, J; Zou, WQ1
Jia, J; Jia, L; Liu, Z; Lu, D; Lu, Y; Lv, H; Piao, Y; Wang, F1
Andrews, MM; Bishop, MT; Chohan, G; Green, AJ; Knight, RS; McCord, Y; McKenzie, JM; Pennington, C1
Appleby, BS; Appleby, KK; Hall, RC; Wallin, MT1
Hashizume, Y; Ieda, T; Ito, M; Iwasaki, Y; Kitamoto, T; Mori, K; Nagaoka, M; Yoshida, M1
Bernovská, V; Cernák, A; Cernák, M; Koščová, S; Mitrová, E; Slivarichová, D1
Blevins, J; Chen, W; Cohen, M; Cohen, Y; Haldiman, T; Kim, C; Safar, JG; Sy, MS1
Calero, M; Calero, O; Cuadrado-Corrales, N; de Pedro-Cuesta, J; Díaz-Hurtado, M; Ipiens, JR; López-Gastón, JI; Muñoz-Nieto, M; Ramón y Cajal, S; Ramonet, N1
Cho, HJ; Choi, KC; Jeon, YC; Kim, SH; Kim, YS; Lee, SH; Lee, SY; Park, SJ; Yeo, MJ1
Belay, G; Mitrová, E1
Doh-Ura, K; Hirata, A; Kamakura, K; Motoyoshi, K; Nishida, T; Tokumaru, AM1
Belay, G; Budka, H; Hainfellner, JA; Jarius, C; Kovacs, GG; Mitrova, E1
Alpers, M; Beck, JA; Campbell, T; Collinge, J; Fisher, EM; Goldstein, D; Mead, S; Poulter, M; Stumpf, MP; Uphill, JB; Whitfield, J1
Fujimori, J; Fukushima, R; Kitamoto, T; Nakamura, M; Shiga, Y; Yoshida, Y1
Aguzzi, A; Bogousslavsky, J; Glatzel, M; Rossetti, AO1
Batchelor, M; Bhelt, D; Clarke, AR; Collinge, J; Hosszu, LL; Jackson, GS; Jones, S; Prodromidou, K; Trevitt, CR; Waltho, JP1
Disterer, P; Gill, AC; James, W; Tahiri-Alaoui, A1
Chrétien, F; Créminon, C; Delisle, MB; Dormont, D; Gambetti, P; Gras, G; Gray, F; Ironside, JW; Le Pavec, G; Mikol, J; Parchi, P; Uro-Coste, E; Vallat-Decouvelaere, AV1
Asante, EA; Brandner, S; Collinge, J; Desbruslais, M; Gowland, I; Hill, AF; Joiner, S; Linehan, JM; Lloyd, SE; Stone, L; Wadsworth, JD; Welch, J1
Carrell, RW1
Bell, KL; Chen, SG; Chin, SS; Dong, Z; Gambetti, P; Pastore, M; Yang, L; Yang, Q; Yuan, J; Zou, WQ1
Andreoletti, O; Basset-Leobon, C; Delisle, MB; Haik, S; Hauw, JJ; Peoc'h, K; Rigal, M; Sazdovitch, V; Uro-Coste, E1
Karlou, M; Korkolopoulou, P; Kouzoupis, A; Malamis, G; Mazmanian, N; Michalopoulos, NV; Papanastasiou, PI; Patsouris, E; Saetta, AA1
Inada, H; Kato, R; Kobayashi, M; Nagasaka, T; Nitta, K; Ohta, E; Shimokawa, C; Shindo, K; Shiozawa, Z; Togashi, S1
Kamitani, T; Kawauchi, Y; Kishida, H; Kitamoto, T; Yagishita, S1
Bratosiewicz-Wasik, J; Golanska, E; Jansen, GH; Liberski, PP; Wasik, TJ1
Asano, M; Kitamoto, T; Kobayashi, A; Mohri, S1
Broholm, H; Dyrbye, H; Dziegiel, MH; Laursen, H1
Binelli, S; Bugiani, O; Capobianco, R; Di Fede, G; Fociani, P; Giaccone, G; Grisoli, M; Limido, L; Mangieri, M; Suardi, S; Tagliavini, F1
Beck, JA; Collinge, J; Desbruslais, M; Joiner, S; Lantos, P; Mead, S; O'Donoghue, M; Wadsworth, JD1
Brandel, JP; Chiras, J; Dormont, D; Galanaud, D; Haïk, S; Ranjeva, JP1
Bell, J; de Silva, R; Dempster, M; Esmonde, T; Estibeiro, P; Ironside, JW; Lathe, R; McCardle, L; Will, R; Windl, O1
Delalande, I; Deslys, JP; Dormont, D; Fallet-Bianco, C; Hénin, D; Leys, D; Masson, C1
Beaudry, P; Chatelain, J; Dussaucy, M; Jouvet, A; Laplanche, JL; Launay, JM; Planques, B; Ripoll, L; Salzmann, M1
Brown, P; Cervenáková, L; Goldfarb, LG; Martinez-Lage, JF; Masullo, C; McCombie, WR; Pocchiari, M; Rubenstein, R; Scalici, C; Will, RG1
Blard, JM; Chatelain, J; Labauge, P; Laplanche, JL; Pagès, M1
Brown, P; Cervenakova, L; Chaunu, MP; el Hachimi, KH; Foncin, JF1
Brown, P; Cervenáková, L; Gajdusek, DC; Garruto, R; Goldfarb, LG; Lee, HS1
Alperovitch, A; Collins, S; de Pedro Cuesta, J; Hegyi, I; Kretzschmar, H; Mitrova, E; Pocchiari, M; van Duijn, C; Will, RG; Zerr, I1
Budka, H; Gambetti, P; Hainfellner, JA; Jarius, C; Kitamoto, T; Parchi, P1
Capellari, S; Chin, S; Gambetti, P; Herman, ST; Lynch, T; Parchi, P; Worrall, BB1
Attane, F; Beaudry, P; Besson, G; Delasnerie-Lauprêtre, N; Hannequin, D; Laplanche, JL; Manivet, P; Peoc'h, K1
Alpérovitch, A; Brandel, JP; d'Aignaux, JH; Delasnerie-Lauprêtre, N; Hauw, JJ; Laplanche, JL; Peoc'h, K; Salomon, D1
Bunn, T; Head, MW; Ironside, JW; Kovacs, GG; Laszlo, L; Will, RG1
Hillier, CE; Ironside, JW; Llewelyn, JG; Neal, JW1
Barnham, KJ; Barrow, CJ; Norton, RS; Thompson, AJ1
Abe, H; Doh-ura, K; Iida, T; Iwaki, T; Kawashima, T1
Kretzschmar, HA; Ludolph, AC; Tumani, H; Windl, O1
Doh-ura, K; Iwaki, T; Kitamoto, T; Miyazono, M; Tateishi, J1
Brown, P; Cortelli, P; Goldfarb, LG; Julien, J; LeBlanc, AC; Montagna, P; Pendelbury, WW; Petersen, RB; Tabaton, M; Vital, C1
Collinge, J; Dryden, AJ; Palmer, MS1

Other Studies

69 other study(ies) available for valine and Creutzfeldt-Jakob Syndrome

ArticleYear
Met/Val129 polymorphism of the full-length human prion protein dictates distinct pathways of amyloid formation.
    The Journal of biological chemistry, 2022, Volume: 298, Issue:10

    Topics: Amyloid; Amyloidosis; Creutzfeldt-Jakob Syndrome; Humans; Insomnia, Fatal Familial; Methionine; Polymorphism, Genetic; Prion Proteins; Protein Folding; Valine

2022
Co-existence of PrP
    Scientific reports, 2020, 01-30, Volume: 10, Issue:1

    Topics: Adult; Aged; Aged, 80 and over; Brain; Cohort Studies; Creutzfeldt-Jakob Syndrome; Female; Genetic Association Studies; Humans; Male; Middle Aged; Protein Conformation; Protein Stability; PrPSc Proteins; Tissue Distribution; Valine

2020
A novel mechanism of phenotypic heterogeneity in Creutzfeldt-Jakob disease.
    Acta neuropathologica communications, 2020, 06-19, Volume: 8, Issue:1

    Topics: Cerebellum; Cerebral Cortex; Creutzfeldt-Jakob Syndrome; Epitope Mapping; Humans; Mass Spectrometry; Methionine; Phenotype; Prion Proteins; Valine

2020
Pathological progression of genetic Creutzfeldt-Jakob disease with a PrP V180I mutation.
    Prion, 2018, 01-02, Volume: 12, Issue:1

    Topics: Aged; Aged, 80 and over; Brain; Creutzfeldt-Jakob Syndrome; Disease Progression; Gliosis; Glutamic Acid; Humans; Isoleucine; Methionine; Middle Aged; Mutation; Prion Proteins; Vacuoles; Valine

2018
Biochemical features of genetic Creutzfeldt-Jakob disease with valine-to-isoleucine substitution at codon 180 on the prion protein gene.
    Biochemical and biophysical research communications, 2018, 02-19, Volume: 496, Issue:4

    Topics: Aged, 80 and over; Amino Acid Substitution; Codon; Creutzfeldt-Jakob Syndrome; Female; Genetic Markers; Genetic Predisposition to Disease; Humans; Isoleucine; Male; Neocortex; Prion Proteins; Valine

2018
Diagnosis of Methionine/Valine Variant Creutzfeldt-Jakob Disease by Protein Misfolding Cyclic Amplification.
    Emerging infectious diseases, 2018, Volume: 24, Issue:7

    Topics: Creutzfeldt-Jakob Syndrome; Genotype; Humans; Methionine; Prion Proteins; Proteostasis Deficiencies; Sensitivity and Specificity; Valine

2018
Glycoform-selective prion formation in sporadic and familial forms of prion disease.
    PloS one, 2013, Volume: 8, Issue:3

    Topics: Brain; Cell Line; Cell Membrane; Creutzfeldt-Jakob Syndrome; Endopeptidase K; Endoplasmic Reticulum; Glycosylation; Humans; Polysaccharides; Prion Diseases; Prions; Proteolysis; Valine

2013
Unusual clinical and molecular-pathological profile of gerstmann-Sträussler-Scheinker disease associated with a novel PRNP mutation (V176G).
    JAMA neurology, 2013, Sep-01, Volume: 70, Issue:9

    Topics: Creutzfeldt-Jakob Syndrome; Female; Genetic Predisposition to Disease; Gerstmann-Straussler-Scheinker Disease; Glycine; Humans; Middle Aged; Mutation; Neurofibrillary Tangles; Pedigree; Phenotype; Prion Proteins; Prions; Valine

2013
Panencephalopathic Creutzfeldt-Jakob disease with distinct pattern of prion protein deposition in a patient with D178N mutation and homozygosity for valine at codon 129 of the prion protein Gene.
    Brain pathology (Zurich, Switzerland), 2014, Volume: 24, Issue:2

    Topics: Brain; Codon; Creutzfeldt-Jakob Syndrome; Female; Homozygote; Humans; Middle Aged; Polymorphism, Genetic; Prion Proteins; Prions; Valine

2014
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.
    Neurobiology of aging, 2014, Volume: 35, Issue:5

    Topics: Adult; Aged; Aged, 80 and over; Codon; Creutzfeldt-Jakob Syndrome; Female; Genotype; Humans; Immunoblotting; Insomnia, Fatal Familial; Male; Methionine; Middle Aged; Mutation; Phosphorylation; Polymorphism, Genetic; Prion Diseases; Prion Proteins; Prions; Protein Isoforms; Protein Processing, Post-Translational; PrPC Proteins; PrPSc Proteins; Valine

2014
Serial magnetic resonance imaging changes in sporadic Creutzfeldt-Jakob disease with valine homozygosity at codon 129 of the prion protein gene.
    JAMA neurology, 2014, Volume: 71, Issue:9

    Topics: Cerebellar Cortex; Codon; Creutzfeldt-Jakob Syndrome; Diffusion Magnetic Resonance Imaging; Electroencephalography; Homozygote; Humans; Male; Middle Aged; Positron-Emission Tomography; Prions; Thalamus; Valine

2014
Iatrogenic CJD due to pituitary-derived growth hormone with genetically determined incubation times of up to 40 years.
    Brain : a journal of neurology, 2015, Volume: 138, Issue:Pt 11

    Topics: Adult; Brain; Codon; Creutzfeldt-Jakob Syndrome; Disease Progression; Drug Contamination; Electroencephalography; Female; Gene-Environment Interaction; Genotype; Growth Disorders; Homozygote; Human Growth Hormone; Humans; Iatrogenic Disease; Infectious Disease Incubation Period; Magnetic Resonance Imaging; Male; Methionine; Middle Aged; Prion Proteins; Prions; Retrospective Studies; Time Factors; United Kingdom; Valine

2015
The Distribution of Prion Protein Allotypes Differs Between Sporadic and Iatrogenic Creutzfeldt-Jakob Disease Patients.
    PLoS pathogens, 2016, Volume: 12, Issue:2

    Topics: Adult; Aged; Brain; Brain Chemistry; Creutzfeldt-Jakob Syndrome; Female; Humans; Iatrogenic Disease; Male; Methionine; Middle Aged; Phenotype; PrPC Proteins; PrPSc Proteins; Recombinant Proteins; Valine

2016
Distinctive properties of plaque-type dura mater graft-associated Creutzfeldt-Jakob disease in cell-protein misfolding cyclic amplification.
    Laboratory investigation; a journal of technical methods and pathology, 2016, Volume: 96, Issue:5

    Topics: Brain; Codon; Creutzfeldt-Jakob Syndrome; Dura Mater; Homozygote; Humans; Methionine; Prion Proteins; Protein Folding; PrPSc Proteins; Valine

2016
Prion Strain Characterization of a Novel Subtype of Creutzfeldt-Jakob Disease.
    Journal of virology, 2017, 06-01, Volume: 91, Issue:11

    Topics: Animals; Arvicolinae; Brain; Brain Chemistry; Creutzfeldt-Jakob Syndrome; Genotype; Humans; Methionine; Mice; Mice, Transgenic; Phenotype; Prion Proteins; Prions; Protein Conformation; Valine

2017
Prevalence of variant CJD in the UK.
    BMJ (Clinical research ed.), 2009, May-21, Volume: 338

    Topics: Creutzfeldt-Jakob Syndrome; Heterozygote; Homozygote; Humans; Methionine; Prevalence; United Kingdom; Valine

2009
Incidence and spectrum of sporadic Creutzfeldt-Jakob disease variants with mixed phenotype and co-occurrence of PrPSc types: an updated classification.
    Acta neuropathologica, 2009, Volume: 118, Issue:5

    Topics: Aged; Aged, 80 and over; Brain; Creutzfeldt-Jakob Syndrome; DNA Mutational Analysis; Female; Humans; Incidence; Male; Methionine; Middle Aged; Neurologic Examination; Phenotype; Plaque, Amyloid; PrPSc Proteins; Retrospective Studies; Valine

2009
Co-existence of scrapie prion protein types 1 and 2 in sporadic Creutzfeldt-Jakob disease: its effect on the phenotype and prion-type characteristics.
    Brain : a journal of neurology, 2009, Volume: 132, Issue:Pt 10

    Topics: Aged; Antibody Specificity; Autopsy; Blotting, Western; Brain Chemistry; Creutzfeldt-Jakob Syndrome; DNA; Endopeptidase K; Female; Humans; Immunoassay; Immunohistochemistry; Indicators and Reagents; Male; Methionine; Middle Aged; Phenotype; Prions; Protein Conformation; Valine

2009
Creutzfeldt-Jakob disease with PRNP G114V mutation in a Chinese family.
    Acta neurologica Scandinavica, 2010, Volume: 121, Issue:6

    Topics: 14-3-3 Proteins; Adult; Aged; Asian People; Cerebral Cortex; Creutzfeldt-Jakob Syndrome; DNA Mutational Analysis; Family Health; Female; Glial Fibrillary Acidic Protein; Glycine; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Mutation; Phenotype; Prion Proteins; Prions; Valine

2010
Elevated phosphorylated tau pT-181 in a possible PRNP codon 129 MV vCJD case.
    Journal of neurology, neurosurgery, and psychiatry, 2010, Volume: 81, Issue:12

    Topics: 14-3-3 Proteins; Adult; Amino Acid Substitution; Blotting, Western; Brain; Codon; Creutzfeldt-Jakob Syndrome; Dementia; Enzyme-Linked Immunosorbent Assay; Gene Expression; Genetic Carrier Screening; Humans; Magnetic Resonance Imaging; Male; Methionine; Nerve Growth Factors; Phosphorylation; Prion Proteins; Prions; Pulvinar; S100 Calcium Binding Protein beta Subunit; S100 Proteins; tau Proteins; Threonine; Valine

2010
D178N, 129Val and N171S, 129Val genotype in a family with Creutzfeldt-Jakob disease.
    Dementia and geriatric cognitive disorders, 2010, Volume: 30, Issue:5

    Topics: Antidepressive Agents; Black or African American; Brain; Codon; Creutzfeldt-Jakob Syndrome; Electroencephalography; Family; Genotype; Humans; Immunohistochemistry; Magnetic Resonance Imaging; Male; Middle Aged; Pedigree; Prion Proteins; Prions; Sertraline; Stress Disorders, Post-Traumatic; Valine; Veterans

2010
An autopsied case of V180I Creutzfeldt-Jakob disease presenting with panencephalopathic-type pathology and a characteristic prion protein type.
    Neuropathology : official journal of the Japanese Society of Neuropathology, 2011, Volume: 31, Issue:5

    Topics: Aged; Autopsy; Creutzfeldt-Jakob Syndrome; Diagnosis, Differential; Fatal Outcome; Female; Humans; Isoleucine; Prion Diseases; Subacute Sclerosing Panencephalitis; Valine

2011
Experience with preventive genetic testing of corneal donors in slovakia.
    Cornea, 2011, Volume: 30, Issue:9

    Topics: Age Distribution; Aged; Codon; Cornea; Corneal Transplantation; Creutzfeldt-Jakob Syndrome; Disease Transmission, Infectious; Genetic Testing; Genotype; Humans; Methionine; Middle Aged; Point Mutation; Polymerase Chain Reaction; Prion Proteins; Prions; Slovakia; Tissue Donors; Valine

2011
Protease-sensitive conformers in broad spectrum of distinct PrPSc structures in sporadic Creutzfeldt-Jakob disease are indicator of progression rate.
    PLoS pathogens, 2011, Volume: 7, Issue:9

    Topics: Aged; Aged, 80 and over; Brain; Codon; Creutzfeldt-Jakob Syndrome; Disease Progression; Epitopes; Female; Homozygote; Humans; Male; Methionine; Middle Aged; Nonlinear Dynamics; Peptide Hydrolases; Phenotype; Prion Proteins; Prions; PrPSc Proteins; Regression Analysis; Valine

2011
A novel mutation I215V in the PRNP gene associated with Creutzfeldt-Jakob and Alzheimer's diseases in three patients with divergent clinical phenotypes.
    Journal of neurology, 2013, Volume: 260, Issue:1

    Topics: 14-3-3 Proteins; Aged; Aged, 80 and over; Alzheimer Disease; Autopsy; Creutzfeldt-Jakob Syndrome; Glial Fibrillary Acidic Protein; Humans; Isoleucine; Male; Models, Molecular; Mutation; Phenotype; Prion Proteins; Prions; Spain; Valine

2013
Familial Creutzfeldt-Jakob disease with a mutation at codon 180 presenting with an atypical phenotype.
    Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia, 2013, Volume: 20, Issue:1

    Topics: Aged; Codon; Creutzfeldt-Jakob Syndrome; Female; Humans; Mutation; Phenotype; Prions; Valine

2013
Creutzfeldt-Jakob disease with E200K mutation in Slovakia: characterization and development.
    Acta virologica, 2002, Volume: 46, Issue:1

    Topics: Amino Acid Substitution; Creutzfeldt-Jakob Syndrome; Female; Genotype; Humans; Male; Methionine; Mutation; Pedigree; Phenotype; Prions; Restriction Mapping; Risk Factors; Slovakia; Valine

2002
Probable sporadic Creutzfeldt-Jakob disease with valine homozygosity at codon 129 and bilateral middle cerebellar peduncle lesions.
    Internal medicine (Tokyo, Japan), 2003, Volume: 42, Issue:2

    Topics: Aged; Cerebellar Ataxia; Codon; Creutzfeldt-Jakob Syndrome; Disease Progression; Electroencephalography; Fatal Outcome; Heterozygote; Humans; Magnetic Resonance Imaging; Male; Polymorphism, Genetic; Severity of Illness Index; Valine

2003
Distinctive cerebellar immunoreactivity for the prion protein in familial (E200K) Creutzfeldt-Jakob disease.
    Acta neuropathologica, 2003, Volume: 105, Issue:5

    Topics: Cerebellum; Creutzfeldt-Jakob Syndrome; Genetic Variation; Glutamic Acid; Humans; Immunohistochemistry; Lysine; Methionine; Mutation; Prions; Valine

2003
Balancing selection at the prion protein gene consistent with prehistoric kurulike epidemics.
    Science (New York, N.Y.), 2003, Apr-25, Volume: 300, Issue:5619

    Topics: Adult; Animals; Cannibalism; Child; Codon; Creutzfeldt-Jakob Syndrome; Disease Outbreaks; Ethnicity; Female; Gene Frequency; Haplotypes; Heterozygote; History, 19th Century; History, 20th Century; History, Ancient; Homozygote; Humans; Immunity, Innate; Kuru; Linkage Disequilibrium; Male; Methionine; Middle Aged; Mutation; Papua New Guinea; Polymorphism, Genetic; PrPC Proteins; Selection, Genetic; Valine

2003
MRI characteristics of sporadic CJD with valine homozygosity at codon 129 of the prion protein gene and PrPSc type 2 in Japan.
    Journal of neurology, neurosurgery, and psychiatry, 2004, Volume: 75, Issue:3

    Topics: Aged; Autopsy; Codon; Creutzfeldt-Jakob Syndrome; Diffusion Magnetic Resonance Imaging; Female; Humans; Japan; Male; Prions; PrPSc Proteins; Thalamus; Valine

2004
Mimicry of variant Creutzfeldt-Jakob disease by sporadic Creutzfeldt-Jakob disease: importance of the pulvinar sign.
    Archives of neurology, 2004, Volume: 61, Issue:3

    Topics: Creutzfeldt-Jakob Syndrome; Genetic Variation; Humans; Magnetic Resonance Imaging; Observer Variation; Pulvinar; Valine

2004
The residue 129 polymorphism in human prion protein does not confer susceptibility to Creutzfeldt-Jakob disease by altering the structure or global stability of PrPC.
    The Journal of biological chemistry, 2004, Jul-02, Volume: 279, Issue:27

    Topics: Amides; Circular Dichroism; Creutzfeldt-Jakob Syndrome; Escherichia coli; Genetic Predisposition to Disease; Humans; Kinetics; Magnetic Resonance Spectroscopy; Methionine; Models, Molecular; Mutation; Plasmids; Polymorphism, Genetic; Protein Conformation; Protein Folding; Protein Structure, Secondary; Protein Structure, Tertiary; PrPC Proteins; Time Factors; Valine

2004
Methionine 129 variant of human prion protein oligomerizes more rapidly than the valine 129 variant: implications for disease susceptibility to Creutzfeldt-Jakob disease.
    The Journal of biological chemistry, 2004, Jul-23, Volume: 279, Issue:30

    Topics: Alleles; Amino Acid Sequence; Creutzfeldt-Jakob Syndrome; Endopeptidase K; Genetic Variation; Heterozygote; Homozygote; Humans; In Vitro Techniques; Methionine; Models, Molecular; Molecular Sequence Data; Prions; Protein Folding; Protein Structure, Quaternary; Protein Structure, Secondary; Recombinant Proteins; Valine

2004
Expression of excitatory amino acid transporter-1 (EAAT-1) in brain macrophages and microglia of patients with prion diseases.
    Journal of neuropathology and experimental neurology, 2004, Volume: 63, Issue:10

    Topics: Adult; Aged; Amyloid; Brain; Case-Control Studies; Child; Codon; Creutzfeldt-Jakob Syndrome; Excitatory Amino Acid Transporter 1; Female; Heterozygote; Humans; Insomnia, Fatal Familial; Macrophages; Male; Methionine; Microglia; Middle Aged; Prion Proteins; Prions; Protein Precursors; Severity of Illness Index; Time Factors; Valine

2004
Human prion protein with valine 129 prevents expression of variant CJD phenotype.
    Science (New York, N.Y.), 2004, Dec-03, Volume: 306, Issue:5702

    Topics: Amyloid; Animals; Brain; Cattle; Creutzfeldt-Jakob Syndrome; Encephalopathy, Bovine Spongiform; Humans; Methionine; Mice; Mice, Transgenic; Phenotype; Polymorphism, Genetic; Prion Proteins; Prions; Protein Conformation; Protein Precursors; PrPC Proteins; PrPSc Proteins; Valine

2004
Biomedicine. Prion dormancy and disease.
    Science (New York, N.Y.), 2004, Dec-03, Volume: 306, Issue:5702

    Topics: Animals; Appendix; Brain; Carrier State; Cattle; Creutzfeldt-Jakob Syndrome; Disease Outbreaks; Encephalopathy, Bovine Spongiform; Genetic Predisposition to Disease; Genotype; Humans; Methionine; Mice; Mice, Transgenic; Polymorphism, Genetic; Protein Conformation; PrPC Proteins; United Kingdom; Valine

2004
Creutzfeldt-Jakob disease (CJD) with a mutation at codon 148 of prion protein gene: relationship with sporadic CJD.
    The American journal of pathology, 2005, Volume: 167, Issue:6

    Topics: Amino Acid Substitution; Autopsy; Brain; Codon; Creutzfeldt-Jakob Syndrome; Female; Genetic Carrier Screening; Genotype; Humans; Male; Methionine; Middle Aged; Mutation; Open Reading Frames; Pedigree; Phenotype; Protein Conformation; PrPC Proteins; PrPSc Proteins; Valine

2005
Familial Creutzfeldt-Jakob disease with an R208H-129V haplotype and Kuru plaques.
    Archives of neurology, 2006, Volume: 63, Issue:3

    Topics: Amyloid; Arginine; Blotting, Western; Brain; Creutzfeldt-Jakob Syndrome; Haplotypes; Histidine; Humans; Immunohistochemistry; Male; Middle Aged; Mutation; Plaque, Amyloid; Prion Proteins; Prions; Protein Precursors; Valine

2006
Analysis of PRNP gene codon 129 polymorphism in the Greek population.
    European journal of epidemiology, 2006, Volume: 21, Issue:3

    Topics: Adult; Aged; Codon; Creutzfeldt-Jakob Syndrome; Female; Gene Frequency; Genetics, Population; Genotype; Greece; Humans; Male; Methionine; Middle Aged; Polymerase Chain Reaction; Polymorphism, Genetic; Prion Proteins; Prions; Valine; White People

2006
Autopsy-proven Creutzfeldt-Jakob disease with a codon 180 mutation showing dissociation between diffusion-weighted magnetic resonance imaging and single-photon emission computed tomography findings: Is this a suggestive finding in long survival?
    European neurology, 2006, Volume: 56, Issue:1

    Topics: Aged; Autopsy; Cerebral Cortex; Creutzfeldt-Jakob Syndrome; Diffusion Magnetic Resonance Imaging; Female; Humans; Isoleucine; Methionine; Mutation; Prions; Tomography, Emission-Computed, Single-Photon; Valine

2006
Autopsy case of Creutzfeldt-Jakob disease with Met/Val heterozygosity at codon 129 and type 1 protease-resistant prion protein presenting some florid-type plaques and many Kuru plaques in the cerebellum.
    Neuropathology : official journal of the Japanese Society of Neuropathology, 2006, Volume: 26, Issue:4

    Topics: Autopsy; Blotting, Western; Cerebellum; Creutzfeldt-Jakob Syndrome; Female; Genotype; Humans; Kuru; Methionine; Middle Aged; Peptide Hydrolases; Plaque, Amyloid; Polymerase Chain Reaction; Polymorphism, Genetic; Prions; Valine

2006
Regulatory sequences of the PRNP gene influence susceptibility to sporadic Creutzfeldt-Jakob disease.
    Neuroscience letters, 2007, Jan-16, Volume: 411, Issue:3

    Topics: Creutzfeldt-Jakob Syndrome; Female; Gene Frequency; Genetic Predisposition to Disease; Genotype; Humans; Male; Methionine; Polymorphism, Single Nucleotide; Prion Proteins; Prions; Regulatory Elements, Transcriptional; Valine

2007
Cross-sequence transmission of sporadic Creutzfeldt-Jakob disease creates a new prion strain.
    The Journal of biological chemistry, 2007, Oct-12, Volume: 282, Issue:41

    Topics: Animals; Autopsy; Brain; Codon; Creutzfeldt-Jakob Syndrome; Genotype; Homozygote; Humans; Mice; Mice, Knockout; Mice, Transgenic; Prions; Protein Isoforms; Valine

2007
The M129V polymorphism of codon 129 in the prion gene (PRNP) in the Danish population.
    European journal of epidemiology, 2008, Volume: 23, Issue:1

    Topics: Adult; Aged; Alanine; Alleles; Codon; Creutzfeldt-Jakob Syndrome; Denmark; Female; Genotype; Humans; Male; Middle Aged; Mutation; Polymerase Chain Reaction; Polymorphism, Genetic; Prion Proteins; Prions; Serine; Valine

2008
A novel phenotype of sporadic Creutzfeldt-Jakob disease.
    Journal of neurology, neurosurgery, and psychiatry, 2007, Volume: 78, Issue:12

    Topics: Aged; Antibodies; Antibodies, Monoclonal; Antiparkinson Agents; Blotting, Western; Brain; Codon; Creutzfeldt-Jakob Syndrome; Female; Humans; Immunohistochemistry; Levodopa; Magnetic Resonance Imaging; Methionine; Parkinsonian Disorders; Phenotype; Polymorphism, Genetic; PrPSc Proteins; Valine

2007
Creutzfeldt-Jakob disease, prion protein gene codon 129VV, and a novel PrPSc type in a young British woman.
    Archives of neurology, 2007, Volume: 64, Issue:12

    Topics: Adult; Autopsy; Brain; Codon; Creutzfeldt-Jakob Syndrome; Female; Genotype; Homozygote; Humans; Immunohistochemistry; Magnetic Resonance Imaging; Prions; Valine

2007
Differences of apparent diffusion coefficient values in patients with Creutzfeldt-Jakob disease according to the codon 129 genotype.
    AJNR. American journal of neuroradiology, 2008, Volume: 29, Issue:7

    Topics: Basal Ganglia; Caudate Nucleus; Cerebral Cortex; Codon; Corpus Striatum; Creutzfeldt-Jakob Syndrome; Diffusion Magnetic Resonance Imaging; Genotype; Humans; Methionine; Polymorphism, Genetic; Prions; Pulvinar; Retrospective Studies; Valine

2008
Unusual brain disease death in the United Kingdom: possible implications for variant Creutzfeldt-Jacob disease.
    Euro surveillance : bulletin Europeen sur les maladies transmissibles = European communicable disease bulletin, 2008, Jan-10, Volume: 13, Issue:2

    Topics: Adult; Animals; Brain Chemistry; Cattle; Codon; Creutzfeldt-Jakob Syndrome; Disease Outbreaks; Encephalopathy, Bovine Spongiform; Female; Food Contamination; Genotype; Humans; PrPSc Proteins; United Kingdom; Valine

2008
Neuropathological phenotype and 'prion protein' genotype correlation in sporadic Creutzfeldt-Jakob disease.
    Neuroscience letters, 1994, Sep-26, Volume: 179, Issue:1-2

    Topics: Aged; Aged, 80 and over; Amyloid; Amyloidosis; Creutzfeldt-Jakob Syndrome; DNA; Genotype; Humans; Methionine; Middle Aged; Open Reading Frames; Phenotype; Polymerase Chain Reaction; Polymorphism, Genetic; Prions; Valine

1994
Creutzfeldt-Jakob disease after pituitary-derived human growth hormone therapy: two cases with valine 129 homozygous genotype.
    Neurology, 1994, Volume: 44, Issue:1

    Topics: Adult; Amino Acid Sequence; Creutzfeldt-Jakob Syndrome; Genotype; Growth Hormone; Homozygote; Humans; Hypopituitarism; Male; Prions; PrPSc Proteins; Valine

1994
A new point mutation in the prion protein gene at codon 210 in Creutzfeldt-Jakob disease.
    Neurology, 1993, Volume: 43, Issue:10

    Topics: Aged; Aged, 80 and over; Amino Acid Sequence; Base Sequence; Brain; Codon; Creutzfeldt-Jakob Syndrome; DNA; DNA Primers; Humans; Isoleucine; Middle Aged; Molecular Sequence Data; Nerve Tissue Proteins; Oligonucleotide Probes; Point Mutation; Polymerase Chain Reaction; Polymorphism, Genetic; Prions; PrPSc Proteins; Reference Values; Valine

1993
Iatrogenic Creutzfeldt-Jakob disease: an example of the interplay between ancient genes and modern medicine.
    Neurology, 1994, Volume: 44, Issue:2

    Topics: Amyloid; Base Sequence; Brain; Chromosomes, Human, Pair 20; Codon; Corneal Transplantation; Creutzfeldt-Jakob Syndrome; Deoxyribonucleases, Type II Site-Specific; DNA; DNA Primers; Dura Mater; Electroencephalography; Genotype; Gonadotropins; Growth Hormone; Homozygote; Humans; Iatrogenic Disease; Methionine; Molecular Sequence Data; Open Reading Frames; Point Mutation; Restriction Mapping; Transplantation, Homologous; Valine

1994
Valine homozygous 129 PrP genotype in a French growth-hormone-related Creutzfeldt-Jakob disease patient.
    Neurology, 1993, Volume: 43, Issue:2

    Topics: Adult; Creutzfeldt-Jakob Syndrome; Genotype; Growth Hormone; Homozygote; Humans; Male; Prions; Valine

1993
Putative neurosurgical transmission of Creutzfeldt-Jakob disease with analysis of donor and recipient: agent strains.
    Comptes rendus de l'Academie des sciences. Serie III, Sciences de la vie, 1997, Volume: 320, Issue:4

    Topics: Biopsy; Brain; Creutzfeldt-Jakob Syndrome; Female; Genotype; Humans; Iatrogenic Disease; Immunohistochemistry; Male; Methionine; Middle Aged; Neurosurgery; Phenotype; Prions; Valine

1997
Phenotype-genotype studies in kuru: implications for new variant Creutzfeldt-Jakob disease.
    Proceedings of the National Academy of Sciences of the United States of America, 1998, Oct-27, Volume: 95, Issue:22

    Topics: Adolescent; Adult; Age of Onset; Amyloid; Child; Chromosomes, Human, Pair 20; Codon; Creutzfeldt-Jakob Syndrome; DNA; Female; Genetic Variation; Genotype; Humans; Kuru; Male; Methionine; Middle Aged; Papua New Guinea; Phenotype; Point Mutation; Prion Proteins; Prions; Protein Precursors; Retrospective Studies; Valine

1998
Codon 129 prion protein genotype and sporadic Creutzfeldt-Jakob disease.
    Lancet (London, England), 1999, May-15, Volume: 353, Issue:9165

    Topics: Aged; Aged, 80 and over; Codon; Creutzfeldt-Jakob Syndrome; Genotype; Homozygote; Humans; Methionine; Middle Aged; Molecular Epidemiology; Prions; Valine

1999
A novel phenotype in familial Creutzfeldt-Jakob disease: prion protein gene E200K mutation coupled with valine at codon 129 and type 2 protease-resistant prion protein.
    Annals of neurology, 1999, Volume: 45, Issue:6

    Topics: Aged; Blotting, Western; Creutzfeldt-Jakob Syndrome; Female; Genotype; Humans; Mutation; Pedigree; Phenotype; Prions; Valine

1999
Type 1 protease resistant prion protein and valine homozygosity at codon 129 of PRNP identify a subtype of sporadic Creutzfeldt-Jakob disease.
    Journal of neurology, neurosurgery, and psychiatry, 1999, Volume: 67, Issue:5

    Topics: Codon; Creutzfeldt-Jakob Syndrome; Electroencephalography; Homozygote; Humans; Immunohistochemistry; Male; Middle Aged; Phenotype; Polymorphism, Genetic; Prions; Protease Inhibitors; Valine

1999
Identification of three novel mutations (E196K, V203I, E211Q) in the prion protein gene (PRNP) in inherited prion diseases with Creutzfeldt-Jakob disease phenotype.
    Human mutation, 2000, Volume: 15, Issue:5

    Topics: Aged; Amino Acid Substitution; Amyloid; Creutzfeldt-Jakob Syndrome; Female; Glutamic Acid; Glutamine; Humans; Isoleucine; Lysine; Male; Middle Aged; Mutation, Missense; Phenotype; Prion Proteins; Prions; Protein Precursors; Valine

2000
Trends in mortality from sporadic Creutzfeldt-Jakob disease in France 1992-7.
    Journal of neurology, neurosurgery, and psychiatry, 2000, Volume: 68, Issue:6

    Topics: Aged; Aged, 80 and over; Cause of Death; Codon; Creutzfeldt-Jakob Syndrome; Cross-Sectional Studies; France; Genotype; Humans; Incidence; Methionine; Middle Aged; Prions; Valine

2000
Clinicopathological phenotype of codon 129 valine homozygote sporadic Creutzfeldt-Jakob disease.
    Neuropathology and applied neurobiology, 2000, Volume: 26, Issue:5

    Topics: Aged; Aged, 80 and over; Amino Acid Sequence; Brain; Codon; Creutzfeldt-Jakob Syndrome; Female; Homozygote; Humans; Immunohistochemistry; Male; Middle Aged; Phenotype; PrPSc Proteins; Valine

2000
Creutzfeldt-Jakob disease in a young person with valine homozygosity at codon 129: sporadic or variant?
    Journal of neurology, neurosurgery, and psychiatry, 2001, Volume: 70, Issue:1

    Topics: Adult; Codon; Creutzfeldt-Jakob Syndrome; Homozygote; Humans; Male; Valine

2001
The Val-210-Ile pathogenic Creutzfeldt-Jakob disease mutation increases both the helical and aggregation propensities of a sequence corresponding to helix-3 of PrP(C).
    Biochimica et biophysica acta, 2001, Jan-12, Volume: 1544, Issue:1-2

    Topics: Amino Acid Sequence; Circular Dichroism; Creutzfeldt-Jakob Syndrome; Isoleucine; Molecular Sequence Data; Mutation; Nuclear Magnetic Resonance, Biomolecular; Protein Structure, Secondary; PrPC Proteins; Valine

2001
An atypical case of sporadic Creutzfeldt-Jakob disease with Parkinson's disease.
    Neuropathology : official journal of the Japanese Society of Neuropathology, 2001, Volume: 21, Issue:4

    Topics: Aged; Atrophy; Cerebral Cortex; Creutzfeldt-Jakob Syndrome; Fatal Outcome; Female; Genetic Carrier Screening; Humans; Middle Aged; Parkinson Disease; Prions; Valine

2001
[Clinically atypical CJD: diagnostic relevance of cerebrospinal fluid markers and molecular genetic analysis?].
    Deutsche medizinische Wochenschrift (1946), 2002, Feb-15, Volume: 127, Issue:7

    Topics: Aged; Alleles; Codon; Creutzfeldt-Jakob Syndrome; Electroencephalography; Female; Homozygote; Humans; Magnetic Resonance Imaging; Phosphopyruvate Hydratase; Point Mutation; Polymerase Chain Reaction; Prions; tau Proteins; Valine

2002
Creutzfeldt-Jakob disease with codon 129 polymorphism (valine): a comparative study of patients with codon 102 point mutation or without mutations.
    Acta neuropathologica, 1992, Volume: 84, Issue:4

    Topics: Adult; Aged; Brain Chemistry; Codon; Creutzfeldt-Jakob Syndrome; Female; Gerstmann-Straussler-Scheinker Disease; Humans; Immunohistochemistry; Japan; Male; Middle Aged; Point Mutation; Polymorphism, Genetic; Prions; PrPSc Proteins; Valine

1992
Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism.
    Science (New York, N.Y.), 1992, Oct-30, Volume: 258, Issue:5083

    Topics: Adult; Asparagine; Chromosomes, Human, Pair 20; Codon; Creutzfeldt-Jakob Syndrome; DNA; Genotype; Humans; Middle Aged; Mutation; Phenotype; Polymorphism, Genetic; Prion Diseases; Prions; Valine

1992
Genetic predisposition to iatrogenic Creutzfeldt-Jakob disease.
    Lancet (London, England), 1991, Jun-15, Volume: 337, Issue:8755

    Topics: Alleles; Creutzfeldt-Jakob Syndrome; Disease Susceptibility; DNA; Gonadotropins, Pituitary; Growth Hormone; Homozygote; Humans; Iatrogenic Disease; Polymerase Chain Reaction; PrPSc Proteins; Valine; Viral Proteins

1991