Genetic PrP Prion Diseases

An integrated map of genetic variation from 1,092 human genomes

The 1000 Genomes Project Consortium (2012) · Nature · doi:10.1038/nature11632 · Cited by 7,711 · see citing works

Prions

Prusiner, S. B. (1998) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.95.23.13363 · Cited by 5,373 · see citing works

Conversion of alpha-helices into beta-sheets features in the formation of the scrapie prion proteins.

Pan, K. M., Baldwin, M. A., Nguyen, J. T., Gasset, M., Serban, A. V., Groth, D., Mehlhorn, I., Huang, Z., Fletterick, R. J., & Cohen, F. E. (1993) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.90.23.10962 · Cited by 2,281 · see citing works

Updated clinical diagnostic criteria for sporadic Creutzfeldt-Jakob disease

Zerr, I., Kallenberg, K., Summers, D. M., Romero, C., Taratuto, A. L., Heinemann, U., Breithaupt, M., Varges, D., Meißner, B., Ladogana, A., et al. (2009) · Brain · doi:10.1093/brain/awp191 · Cited by 917 · see citing works

Homozygous prion protein genotype predisposes to sporadic Creutzfeldt–Jakob disease

Palmer, M. S., Dryden, A. J., Hughes, J. T., & Collinge, J. (1991) · Nature · doi:10.1038/352340a0 · Cited by 890 · see citing works

Molecular basis of phenotypic variability in sporadc creudeldt‐jakob disease

Parchi, P., Castellani, R., Capellari, S., Ghetti, B., Young, K., Chen, S. G., Farlow, M., Dickson, D. W., Sima, A. A. F., Trojanowski, J. Q., et al. (1996) · Annals of Neurology · doi:10.1002/ana.410390613 · Cited by 864 · see citing works

Linkage of a prion protein missense variant to Gerstmann–Sträussler syndrome

Hsiao, K., Baker, H. F., Crow, T. J., Poulter, M., Owen, F., Terwilliger, J. D., Westaway, D. A., Ott, J., & Prusiner, S. B. (1989) · Nature · doi:10.1038/338342a0 · Cited by 848 · see citing works

Human spongiform encephalopathy: The national institutes of health series of 300 cases of experimentally transmitted disease

Brown, P., Gibbs, C. J., Rodgers‐Johnson, P., Asher, D. M., Sulima, M. P., Bacote, A. E., Goldfarb, L. G., & Gajdusek, D. C. (1994) · Annals of Neurology · doi:10.1002/ana.410350504 · Cited by 813 · see citing works

Fatal Familial Insomnia and Familial Creutzfeldt-Jakob Disease: Disease Phenotype Determined by a DNA Polymorphism

Goldfarb, L. G., Petersen, R. B., Tabaton, M., Brown, P., LeBlanc, A. C., Montagna, P., Cortelli, P., Julien, J., Vital, C., Pendelbury, W. W., et al. (1992) · Science · doi:10.1126/science.1439789 · Cited by 713 · see citing works

Fatal Familial Insomnia and Dysautonomia with Selective Degeneration of Thalamic Nuclei

Lugaresi, E., Medori, R., Montagna, P., Baruzzi, A., Cortelli, P., Lugaresi, A., Tinuper, P., Zucconi, M., & Gambetti, P. L. (1986) · New England Journal of Medicine · doi:10.1056/nejm198610163151605 · Cited by 640 · see citing works

Creutzfeldt‐Jakob disease: Patterns of worldwide occurrence and the significance of familial and sporadic clustering

Masters, C. L., Harris, J. O., Gajdusek, D. C., Gibbs, C. J., Bernoulli, C., & Asher, D. M. (1979) · Annals of Neurology · doi:10.1002/ana.410050212 · Cited by 625 · see citing works

Fatal Familial Insomnia, a Prion Disease with a Mutation at Codon 178 of the Prion Protein Gene

Medori, R., Tritschler, H., LeBlanc, A., Villare, F., Manetto, V., Chen, H. Y., Xue, R., Leal, S. M., Montagna, P., Cortelli, P., et al. (1992) · New England Journal of Medicine · doi:10.1056/nejm199202133260704 · Cited by 605 · see citing works

Oral treatment targeting the unfolded protein response prevents neurodegeneration and clinical disease in prion-infected mice

Moreno, J. A., Halliday, M., Molloy, C., Radford, H., Verity, N., Axten, J. M., Ortori, C. A., Willis, A. E., Fischer, P. M., Barrett, D. A., et al. (2013) · Science Translational Medicine · doi:10.1126/scitranslmed.3006767 · Cited by 589 · see citing works

Sporadic and familial CJD: classification and characterisation

Gambetti, P. L., Kong, Q., Zou, W., Parchi, P., & Chen, S. G. (2003) · British Medical Bulletin · doi:10.1093/bmb/66.1.213 · Cited by 568 · see citing works

Evidence for human transmission of amyloid-β pathology and cerebral amyloid angiopathy

Jaunmuktane, Z., Mead, S., Ellis, M., Wadsworth, J. D. F., Nicoll, A. J., Kenny, J., Launchbury, F., Linehan, J., Richard-Loendt, A., Walker, A. S., et al. (2015) · Nature · doi:10.1038/nature15369 · Cited by 518 · see citing works

A Unifying Role for Prions in Neurodegenerative Diseases

Prusiner, S. B. (2012) · Science · doi:10.1126/science.1222951 · Cited by 495 · see citing works

PrionsPreprint

Colby, D. W., & Prusiner, S. B. (2011) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a006833 · Cited by 469 · see citing works

Biology and Genetics of Prions Causing Neurodegeneration

Prusiner, S. B. (2013) · Annual Review of Genetics · doi:10.1146/annurev-genet-110711-155524 · Cited by 455 · see citing works

Genetic prion disease: the EUROCJD experience

Kovács, G. G., Puopolo, M., Ladogana, A., Pocchiari, M., Budka, H., van Duijn, C. M., Collins, S. J., Boyd, A., Giulivi, A., Coulthart, M., et al. (2005) · Human Genetics · doi:10.1007/s00439-005-0020-1 · Cited by 449 · see citing works

Quantifying prion disease penetrance using large population control cohorts

Minikel, E. V., Vallabh, S. M., Lek, M., Estrada, K., Samocha, K. E., Sathirapongsasuti, J. F., McLean, C. Y., Tung, J. Y., Yu, L. P. C., Gambetti, P., et al. (2016) · Science Translational Medicine · doi:10.1126/scitranslmed.aad5169 · Cited by 442 · see citing works

Neuropathological Diagnostic Criteria for Creutzfeldt‐Jakob Disease (CJD) and Other Human Spongiform Encephalopathies (Prion Diseases)

Budka, H., Aguzzi, A., Brown, P., Brucher, J., Bugiani, O., Gullotta, F., Haltia, M., Hauw, J., Ironside, J. W., Jellinger, K. A., et al. (1995) · Brain Pathology · doi:10.1111/j.1750-3639.1995.tb00625.x · Cited by 428 · see citing works

Creutzfeldt‐Jakob disease: Clinical analysis of a consecutive series of 230 neuropathologically verified cases

Brown, P., Cathala, F., Castaigne, P., & Gajdusek, D. C. (1986) · Annals of Neurology · doi:10.1002/ana.410200507 · Cited by 398 · see citing works

Diffusion-weighted MRI hyperintensity patterns differentiate CJD from other rapid dementias

Vitali, P., Maccagnano, E., Caverzasi, E., Henry, R. G., Haman, A., Torres-Chae, C. C., Johnson, D. Y., Miller, B. L., & Geschwind, M. D. (2011) · Neurology · doi:10.1212/wnl.0b013e31821a4439 · Cited by 396 · see citing works

Sporadic human prion diseases: molecular insights and diagnosis

Puoti, G., Bizzi, A., Forloni, G., Safar, J., Tagliavini, F., & Gambetti, P. L. (2012) · The Lancet Neurology · doi:10.1016/s1474-4422(12)70063-7 · Cited by 362 · see citing works

Determinants of diagnostic investigation sensitivities across the clinical spectrum of sporadic Creutzfeldt-Jakob disease

Collins, S. J. (2006) · Brain · doi:10.1093/brain/awl159 · Cited by 338 · see citing works

Transmissible familial Creutzfeldt-Jakob disease associated with five, seven, and eight extra octapeptide coding repeats in the PRNP gene.

Goldfarb, L. G., Brown, P., McCombie, W. R., Goldgaber, D., Swergold, G. D., Wills, P. R., Červen̆áková, L., Baron, H., Gibbs, C. J., & Gajdusek, D. C. (1991) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.88.23.10926 · Cited by 331 · see citing works

INSERTION IN PRION PROTEIN GENE IN FAMILIAL CREUTZFELDT-IAKOB DISEASE

Owen, F., Lofthouse, R., Crow, T. J., Baker, H. F., Poulter, M., Collinge, J., Risby, D., Ridley, R. M., Hsiao, K., & Prusiner, S. B. (1989) · The Lancet · doi:10.1016/s0140-6736(89)91713-3 · Cited by 305 · see citing works

Vascular variant of prion protein cerebral amyloidosis with tau-positive neurofibrillary tangles: the phenotype of the stop codon 145 mutation in PRNP.

Ghetti, B. F., Piccardo, P., Spillantini, M. G., Ichimiya, Y., Porro, M., Perini, F., Kitamoto, T., Tateishi, J., Seiler, C. E., Frangione, B., et al. (1996) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.93.2.744 · Cited by 281 · see citing works

Mutation of the Prion Protein in Libyan Jews with Creutzfeldt–Jakob Disease

Hsiao, K., Meiner, Z., Kahana, E., Cass, C., Kahana, I., Avrahami, D., Scarlato, G., Abramsky, O., Prusiner, S. B., & Gabizon, R. (1991) · New England Journal of Medicine · doi:10.1056/nejm199104183241604 · Cited by 277 · see citing works

Targeting Cellular Prion Protein Reverses Early Cognitive Deficits and Neurophysiological Dysfunction in Prion-Infected Mice

Mallucci, G. R., White, M. D., Farmer, M., Dickinson, A., Khatun, H., Powell, A. D., Brandner, S., Jefferys, J. G. R., & Collinge, J. (2007) · Neuron · doi:10.1016/j.neuron.2007.01.005 · Cited by 267 · see citing works

Incidence and spectrum of sporadic Creutzfeldt–Jakob disease variants with mixed phenotype and co-occurrence of PrPSc types: an updated classification

Parchi, P., Strammiello, R., Notari, S., Giese, A., Langeveld, J., Ladogana, A., Zerr, I., Roncaroli, F., Cras, P., Ghetti, B. F., et al. (2009) · Acta Neuropathologica · doi:10.1007/s00401-009-0585-1 · Cited by 262 · see citing works

Mutations of the Prion Protein Gene

Kovács, G. G., Trabattoni, G., Hainfellner, J. A., Ironside, J. W., Knight, R., & Budka, H. (2002) · Journal of Neurology · doi:10.1007/s00415-002-0896-9 · Cited by 260 · see citing works

Mutations in familial Creutzfeldt-Jakob disease and Gerstmann-Sträussler-Scheinker's syndrome

Goldgaber, D., Goldfarb, L. G., Brown, P., Asher, D. M., Brown, W. T., Lin, S., Teener, J. W., Feinstone, S. M., Rubenstein, R., & Kascsak, R. J. (1989) · Experimental Neurology · doi:10.1016/0014-4886(89)90095-2 · Cited by 256 · see citing works

Mutant prion proteins in Gerstmann-Sträussler-Scheinker disease with neurofibrillary tangles

Hsiao, K., Dlouhy, S. R., Farlow, M. R., Cass, C., Costa, M. D., Conneally, P. M., Hodes, M. E., Ghetti, B. F., & Prusiner, S. B. (1992) · Nature Genetics · doi:10.1038/ng0492-68 · Cited by 245 · see citing works

Propagation of prions causing synucleinopathies in cultured cells

Woerman, A. L., Stöhr, J., Aoyagi, A., Rampersaud, R., Krejciova, Z., Watts, J. C., Ohyama, T., Patel, S. S., Widjaja, K., Oehler, A., et al. (2015) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1513426112 · Cited by 241 · see citing works

Recommendations for the predictive genetic test in Huntington's disease

MacLeod, R., Tibben, A., Frontali, M., Evers‐Kiebooms, G., Jones, A., Martínez‐Descals, A., & Roos, R. (2012) · Clinical Genetics · doi:10.1111/j.1399-0004.2012.01900.x · Cited by 237 · see citing works

Über eine eigenartige hereditär- familiäre Erkrankung des Zentralnervensystems

Gerstmann, J., Sträussler, E., & SCHEINKER, I. M. (1954) · Zeitschrift für die gesamte Neurologie und Psychiatrie · doi:10.1007/bf02865827 · Cited by 217 · see citing works

Iatrogenic Creutzfeldt–Jakob disease

Brown, P., Brandel, J., Preese, M., & SATO, T. A. (2006) · Neurology · doi:10.1212/01.wnl.0000231528.65069.3f · Cited by 204 · see citing works

Linkage of the Indiana kindred of Gerstmann-Sträussler-Scheinker disease to the prion protein gene

Dlouhy, S. R., Hsiao, K., Farlow, M. R., Foroud, T., Conneally, P. M., Johnson, P., Prusiner, S. B., Hodes, M. E., & Ghetti, B. (1992) · Nature Genetics · doi:10.1038/ng0492-64 · Cited by 203 · see citing works

Phenotypic Variability of Gerstmann-Straussler-Scheinker Disease is Associated with Prion Protein Heterogeneity

Piccardo, P., Dlouhy, S. R., Lievens, P., Young, K., Bird, T. D., Nochlin, D., Dickson, D. W., Vinters, H. V., Zimmerman, T. R., Mackenzie, I. R., et al. (1998) · Journal of Neuropathology & Experimental Neurology · doi:10.1097/00005072-199810000-00010 · Cited by 203 · see citing works

Prospective 10-year surveillance of human prion diseases in Japan

Nozaki, I., Hamaguchi, T., Sanjo, N., Noguchi‐Shinohara, M., Sakai, K., Nakamura, Y., SATO, T. A., Kitamoto, T., Mizusawa, H., Moriwaka, F., et al. (2010) · Brain · doi:10.1093/brain/awq216 · Cited by 199 · see citing works

Molecular genetics of human prion diseases in Germany

Windl, O., Giese, A., Schulz‐Schaeffer, W., Zerr, I., Skworc, K., Arendt, S., Oberdieck, C., Bodemer, M., Poser, S., & Kretzschmar, H. A. (1999) · Human Genetics · doi:10.1007/s004399900124 · Cited by 182 · see citing works

Prion hypothesis: the end of the controversy?

Soto, C. A. (2010) · Trends in Biochemical Sciences · doi:10.1016/j.tibs.2010.11.001 · Cited by 168 · see citing works

Meta‐Analysis of gross insertions causing human genetic disease: Novel mutational mechanisms and the role of replication slippage

Chen, J., Chuzhanova, N. A., Stenson, P. D., Férec, C., & Cooper, D. N. (2005) · Human Mutation · doi:10.1002/humu.20133 · Cited by 166 · see citing works

Regional distribution of protease‐resistant prion protein in fatal familial insomnia

Parchi, P., Castellani, R. J., Cortelli, P., Montagna, P., Chen, S. G., Petersen, R. B., Manetto, V., Vnencak‐Jones, C. L., McLean, M. J., Sheller, J. R., et al. (1995) · Annals of Neurology · doi:10.1002/ana.410380107 · Cited by 159 · see citing works

A Novel Prion Disease Associated with Diarrhea and Autonomic Neuropathy

Mead, S., Gandhi, S., Beck, J. A., Caine, D., Gajulapalli, D., Carswell, C. J., Hyare, H., Joiner, S., Ayling, H., Lashley, T., et al. (2013) · New England Journal of Medicine · doi:10.1056/nejmoa1214747 · Cited by 156 · see citing works

A prion protein variant in a family with the telencephalic form of Gerstmann‐Straussler‐Scheinker syndrome

Hsiao, K., Cass, C., Schellenberg, G. D., Bird, T. D., Devine-Gage, E. A., Wisniewski, H., & Prusiner, S. B. (1991) · Neurology · doi:10.1212/wnl.41.5.681 · Cited by 153 · see citing works

Huntington Disease Phenocopy Is a Familial Prion Disease

Moore, R. C., Xiang, F., Monaghan, J., Han, D. G., Zhang, Z., Edström, L., Anvret, M., & Prusiner, S. B. (2001) · The American Journal of Human Genetics · doi:10.1086/324414 · Cited by 153 · see citing works

Gerstmann‐Sträussler‐Scheinker Disease and the Indiana Kindred

Ghetti, B. F., Dlouhy, S. R., Giaccone, G., Bugiani, O., Frangione, B., Farlow, M. R., & Tagliavini, F. (1995) · Brain Pathology · doi:10.1111/j.1750-3639.1995.tb00578.x · Cited by 151 · see citing works

An in-frame insertion in the prion protein gene in familial Creutzfeldt-Jakob disease

Owen, F., Poulter, M., Shah, T., Collinge, J., Lofthouse, R., Baker, H. F., Ridley, R. M., McVey, J. H., & Crow, T. J. (1990) · Molecular Brain Research · doi:10.1016/0169-328x(90)90038-f · Cited by 148 · see citing works

Early Detection of Abnormal Prion Protein in Genetic Human Prion Diseases Now Possible Using Real-Time QUIC Assay

Sano, K., Satoh, K., Atarashi, R., Takashima, H., Iwasaki, Y., Yoshida, M., Sanjo, N., Murai, H., Mizusawa, H., Schmitz, M., et al. (2013) · PLoS ONE · doi:10.1371/journal.pone.0054915 · Cited by 147 · see citing works

Pre-symptomatic diagnosis in fatal familial insomnia: serial neurophysiological and 18FDG-PET studies

Cortelli, P., Perani, D., Montagna, P., Gallassi, R., Tinuper, P., Provini, F., Avoni, P., Ferrillo, F., Anchisi, D., Moresco, R. M., et al. (2006) · Brain · doi:10.1093/brain/awl003 · Cited by 143 · see citing works

Rapidly progressive dementia

Geschwind, M. D., Haman, A., & Miller, B. L. (2007) · Neurologic Clinics · doi:10.1016/j.ncl.2007.04.001 · Cited by 143 · see citing works

The Original Gerstmann‐Sträussler‐Scheinker Family of Austria: Divergent Clinicopathological Phenotypes but Constant PrP Genotype

Hainfellner, J. A., Brantner-Inthaler, S., Červen̆áková, L., Brown, P., Kitamoto, T., Tateishi, J., Diringer, H., Liberski, P. P., Regele, H. M., Feucht, M., et al. (1995) · Brain Pathology · doi:10.1111/j.1750-3639.1995.tb00596.x · Cited by 142 · see citing works

Gerstmann–Sträussler–Scheinker syndrome,fatal familial insomnia, and kuru: a review ofthese less common human transmissiblespongiform encephalopathies

Collins, S. J., McLean, C., & Masters, C. L. (2001) · Journal of Clinical Neuroscience · doi:10.1054/jocn.2001.0919 · Cited by 141 · see citing works

Phenotypic heterogeneity and genetic modification of P102L inherited prion disease in an international series

Webb, T., Poulter, M., Beck, J. A., Uphill, J. B., Adamson, G., Campbell, T., Linehan, J. M., Powell, C., Brandner, S., Pal, S., et al. (2008) · Brain · doi:10.1093/brain/awn202 · Cited by 138 · see citing works

INHERITED PRION DISEASES

Kong, Q., Surewicz, W., Petersen, R., Zou, W., Chen, S., Gambetti, P. L., Parchi, P., Capellari, S., Goldfarb, L. G., Montagna, P., et al. (2004) · Cold Spring Harbor Laboratory eBooks · Cited by 138 · see citing works

Prion protein amyloidosis with divergent phenotype associated with two novel nonsense mutations in PRNP

Jansen, C., Parchi, P., Capellari, S., Vermeij, A. J., Corrado, P., Baas, F., Strammiello, R., van Gool, W. A., Swieten, J. C. V., & Rozemüller, A. J. M. (2009) · Acta Neuropathologica · doi:10.1007/s00401-009-0609-x · Cited by 134 · see citing works

Rapidly Progressive Dementia

Geschwind, M. D. (2016) · Continuum · doi:10.1212/con.0000000000000319 · Cited by 131 · see citing works

The Prion Diseases

Brown, K., & Mastrianni, J. A. (2010) · Journal of Geriatric Psychiatry and Neurology · doi:10.1177/0891988710383576 · Cited by 128 · see citing works

The genetics of prion diseases

Mastrianni, J. A. (2010) · Genetics in Medicine · doi:10.1097/gim.0b013e3181cd7374 · Cited by 125 · see citing works

Genetic Creutzfeldt–Jakob disease and fatal familial insomnia: insights into phenotypic variability and disease pathogenesis

Capellari, S., Strammiello, R., Saverioni, D., Kretzschmar, H. A., & Parchi, P. (2010) · Acta Neuropathologica · doi:10.1007/s00401-010-0760-4 · Cited by 120 · see citing works

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

Kovács, G. G., Seguin, J., Quadrio, I., Höftberger, R., Kapás, I., Streichenberger, N., Biacabé, A.-G., Meyronet, D., Sciot, R., Vandenberghe, R. R., et al. (2010) · Acta Neuropathologica · doi:10.1007/s00401-010-0713-y · Cited by 118 · see citing works

Prion disease associated with a novel nine octapeptide repeat insertion in the PRNP gene

Krasemann, S., Zerr, I., Weber, T., Poser, S., Kretzschmar, H. A., Hunsmann, G., & Bodemer, W. (1995) · Molecular Brain Research · doi:10.1016/0169-328x(95)00175-r · Cited by 110 · see citing works

Inherited prion disease with six octapeptide repeat insertional mutation--molecular analysis of phenotypic heterogeneity

Mead, S. (2006) · Brain · doi:10.1093/brain/awl226 · Cited by 110 · see citing works

Familial spongiform encephalopathy associated with a novel prion protein gene mutation

Nitrini, R., Rosemberg, S., Passos‐Bueno, M. R., da Silva, L. S. T., Iughetti, P., Papadopoulos, M., Carrilho, P. M., Caramelli, P., Albrecht, S., Zatz, M., et al. (1997) · Annals of Neurology · doi:10.1002/ana.410420203 · Cited by 106 · see citing works

Cellular Phenotyping of Secretory and Nuclear Prion Proteins Associated with Inherited Prion Diseases

Lorenz, H., Windl, O., & Kretzschmar, H. A. (2002) · Journal of Biological Chemistry · doi:10.1074/jbc.m110197200 · Cited by 101 · see citing works

Phenotypic variability in familial prion diseases due to the D178N mutation

Zarranz, J. J. (2005) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp.2004.056606 · Cited by 101 · see citing works

Creutzfeldt‐Jakob disease in France: II. Clinical characteristics of 124 consecutive verified cases during the decade 1968–1977

Brown, P., Cathala, F., Sadowsky, D. A., & Gajdusek, D. C. (1979) · Annals of Neurology · doi:10.1002/ana.410060510 · Cited by 100 · see citing works

Identification of three novel mutations (E196K, V203I, E211Q) in the prion protein gene (PRNP) in inherited prion diseases with Creutzfeldt-Jakob disease phenotype

Peoc’h, K., Manivet, P., Beaudry, P., Attane, F., Besson, G., Hannequin, D., Delasnerie-Lauprêtre, N., & Laplanche, J. (2000) · Human Mutation · doi:10.1002/(sici)1098-1004(200005)15:5 · Cited by 100 · see citing works

Genetic prion disease: Experience of a rapidly progressive dementia center in the United States and a review of the literature

Takada, L. T., Kim, M., Cleveland, R. W., Wong, K., Forner, S. A., Illán‐Gala, I., Fong, J. C., & Geschwind, M. D. (2016) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32505 · Cited by 100 · see citing works

Hereditary Human Prion Diseases: an Update

Schmitz, M., Dittmar, K., Llorens, F., Gelpí, E., Ferrer, I., Schulz‐Schaeffer, W., & Zerr, I. (2016) · Molecular Neurobiology · doi:10.1007/s12035-016-9918-y · Cited by 99 · see citing works

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

Spudich, S., Mastrianni, J. A., Wrensch, M., Gabizon, R., Meiner, Z., Kahana, I., Rosenmann, H., Kahana, E., & Prusiner, S. B. (1995) · Molecular Medicine · doi:10.1007/bf03401601 · Cited by 96 · see citing works

Phenotypic characteristics of familial Creutzfeldt‐Jakob disease assoicated with the codon 178AsnPRNP mutation

Brown, P., Goldfarb, L. G., Kovanen, J., Haltia, M., Cathala, F., Sulima, M. P., Gibbs, C. J., & Gajdusek, D. C. (1992) · Annals of Neurology · doi:10.1002/ana.410310309 · Cited by 95 · see citing works

PRNP allelic series from 19 years of prion protein gene sequencing at the MRC Prion Unit

Beck, J. A., Poulter, M., Campbell, T., Adamson, G., Uphill, J. B., Guerreiro, R. J., Jackson, G. S., Stevens, J. C., Manji, H., Collinge, J., et al. (2010) · Human Mutation · doi:10.1002/humu.21281 · Cited by 94 · see citing works

A dementing illness associated with a novel insertion in the prion protein gene

Owen, F., Poulter, M., Collinge, J., Leach, M., Lofthouse, R., Crow, T. J., & Harding, A. E. (1992) · Molecular Brain Research · doi:10.1016/0169-328x(92)90056-h · Cited by 93 · see citing works

Ancestral Origins and Worldwide Distribution of the PRNP 200K Mutation Causing Familial Creutzfeldt-Jakob Disease

Lee, H. S., Sambuughin, N., Červen̆áková, L., Chapman, J., Pocchiari, M., Litvak, S., Qi, H. Y., Budka, H., del Ser, T., Furukawa, H., et al. (1999) · The American Journal of Human Genetics · doi:10.1086/302340 · Cited by 91 · see citing works

Immunochemical, molecular genetic, and transmission studies on a case of Gerstmann‐Straussler‐Scheinker syndrome

Tateishi, J., Kitamoto, T., Doh‐ura, K., Sakaki, Y., Steinmetz, G., Tranchant, C., Warter, J., & Heldt, N. (1990) · Neurology · doi:10.1212/wnl.40.10.1578 · Cited by 90 · see citing works

Prominent psychiatric features and early onset in an inherited prion disease with a new insertional mutation in the prion protein gene

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Abnormal Properties of Prion Protein with Insertional Mutations in Different Cell Types

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A systemic analysis of Creutzfeldt Jakob disease cases in Asia

Rasheed, U., Khan, S. I., Khalid, M., Noor, A., & Zafar, S. (2024) · Prion · doi:10.1080/19336896.2024.2311950 · Cited by 16 · see citing works

Recent developments in antibody therapeutics against prion disease

Frontzek, K., & Aguzzi, A. (2020) · Emerging Topics in Life Sciences · doi:10.1042/etls20200002 · Cited by 13 · see citing works

Detection of Pathognomonic Biomarker PrPSc and the Contribution of Cell Free-Amplification Techniques to the Diagnosis of Prion Diseases

Eraña, H., Charco, J. M., González-Miranda, E., García-Martínez, S., López-Moreno, R., Pérez‐Castro, M. A., Díaz‐Domínguez, C. M., García-Salvador, A., & Castilla, J. (2020) · Biomolecules · doi:10.3390/biom10030469 · Cited by 13 · see citing works

Transcript errors generate amyloid-like proteins in human cells

Chung, C. S., Kou, Y., Shemtov, S. J., Verheijen, B. M., Flores, I., Love, K., Dosso, A. D., Thorwald, M. A., Liu, Y., Hicks, D., et al. (2024) · Nature Communications · doi:10.1038/s41467-024-52886-2 · Cited by 14 · see citing works

Multisite interactions of prions with membranes and native nanodiscs

Overduin, M., Wille, H., & Westaway, D. A. (2021) · Chemistry and Physics of Lipids · doi:10.1016/j.chemphyslip.2021.105063 · Cited by 12 · see citing works

Analysis of 12 Chinese Patients with Proline-to-Leucine Mutation at Codon 102-Associated Gerstmann-Sträussler-Scheinker Disease

Wang, J., Xiao, K., Zhou, W. M., Shi, Q., & Dong, X.-P. (2019) · Journal of Clinical Neurology · doi:10.3988/jcn.2019.15.2.184 · Cited by 12 · see citing works

Autoantibodies against the prion protein in individuals with PRNP mutations

Frontzek, K., Carta, M. C., Losa, M., Epskamp, M., Meisl, G., Anane, A., Brandel, J., Camenisch, U., Castilla, J., Haı̈k, S., et al. (2020) · Neurology · doi:10.1212/wnl.0000000000009183 · Cited by 13 · see citing works

An in vivo 11C‐ PK PET study of microglia activation in Fatal Familial Insomnia

Iaccarino, L., Presotto, L., Bettinardi, V., Gianolli, L., Roiter, I., Capellari, S., Parchi, P., Cortelli, P., & Perani, D. (2017) · Annals of Clinical and Translational Neurology · doi:10.1002/acn3.498 · Cited by 11 · see citing works

Differential gene expression response of synovial fibroblasts from temporomandibular joints and knee joints to dynamic tensile stress

Nazet, U., Neubert, P., Schatz, V., Grässel, S., Proff, P., Jantsch, J., Schröder, A., & Kirschneck, C. (2021) · Journal of Orofacial Orthopedics / Fortschritte der Kieferorthopädie · doi:10.1007/s00056-021-00309-y · Cited by 10 · see citing works

Description of the first Spanish case of Gerstmann–Sträussler–Scheinker disease with A117V variant: clinical, histopathological and biochemical characterization

Eraña, H., Millán, B. S., Díaz‐Domínguez, C. M., Charco, J. M., Rodríguez, R., Viéitez, I., Pereda, A., Yañez, R., Geijó, M., Fernández-Balbuena, C. N., et al. (2022) · Journal of Neurology · doi:10.1007/s00415-022-11051-9 · Cited by 10 · see citing works

Stress and viral insults do not trigger E200K PrP conversion in human cerebral organoids

Smith, A., Groveman, B. R., Winkler, C. W., Williams, K., Walters, R., Yuan, J., Zou, W., Peterson, K. E., Foliaki, S. T., & Haigh, C. L. (2022) · PLoS ONE · doi:10.1371/journal.pone.0277051 · Cited by 9 · see citing works

Enfermedades por priones humanas. Una revisión general

Morales, R. P., Barrero-Hernández, F., & Aliaga–Martínez, L. (2023) · Medicina Clínica · doi:10.1016/j.medcli.2023.03.001 · Cited by 10 · see citing works

Creutzfeldt-Jakob Disease: Alterations of Gut Microbiota

Guo, Y., Xu, Y., Lin, X. M., Zhen, Z., Fang, Y., Guan, H., Shi, Q., Sun, W., Yang, A., Dong, X., et al. (2022) · Frontiers in Neurology · doi:10.3389/fneur.2022.832599 · Cited by 10 · see citing works

Systematic Review of Clinical and Pathophysiological Features of Genetic Creutzfeldt–Jakob Disease Caused by a Val-to-Ile Mutation at Codon 180 in the Prion Protein Gene

Matsubayashi, T., & Sanjo, N. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms232315172 · Cited by 9 · see citing works

Peritoneal lavage with Glycyrrhiza glabra is effective in preventing peritoneal adhesion in a rat model

Rakhshandeh, H., Rahimi, V. B., Dehghan-Naieri, B., Rahmanian-Devin, P., Jebalbarezy, A., Hasanpour, M., Iranshahi, M., & Askari, V. (2023) · InflammoPharmacology · doi:10.1007/s10787-023-01139-7 · Cited by 7 · see citing works

Prion protein post-translational modifications modulate heparan sulfate binding and limit aggregate size in prion disease

Callender, J. A., Sevillano, A. M., Soldau, K., Kurt, T. D., Schumann, T., Pizzo, D. P., Altmeppen, H. C., Glatzel, M., Esko, J. D., & Sigurdson, C. J. (2020) · Neurobiology of Disease · doi:10.1016/j.nbd.2020.104955 · Cited by 9 · see citing works

Rare genetic Creutzfeldt-Jakob disease with E196A mutation: a case report

Dai, Y., Lang, Y., Ding, M., Zhang, B., Han, X., Duan, G., & Cui, L. (2019) · Prion · doi:10.1080/19336896.2019.1631679 · Cited by 8 · see citing works

“It may cost you your money, it costs you your life”: a framework for financial hardship in dementia

Harrison, K. L., Adrion, E., Friend, J., Garrett, S. B., Halim, M., Terranova, M. J., Sideman, A. B., Boyd, N. D., Naasan, G., Gilissen, J., et al. (2025) · The Gerontologist · doi:10.1093/geront/gnaf170 · Cited by 7 · see citing works

Characterization of Prion Disease Associated with a Two-Octapeptide Repeat Insertion

Brennecke, N., Calì, I., Mok, T. H., Speedy, H. E., Hosszu, L. L. P., Stehmann, C., Cracco, L., Puoti, G., Prior, T. W., Cohen, M. L., et al. (2021) · Viruses · doi:10.3390/v13091794 · Cited by 7 · see citing works

Characteristics of Chinese patients with genetic CJD who have E196A or E196K mutation in PRNP : comparative analysis of patients identified in the Chinese National CJD Surveillance System

Shi, Q., Xiao, K., Chen, C., Zhou, W., Gao, L., Wu, Y.-Z., Wang, Y., Hu, C., Gao, C., & Dong, X. (2021) · BMJ Open · doi:10.1136/bmjopen-2021-054551 · Cited by 7 · see citing works

Genetic landscape of early-onset dementia in Hungary

Csabán, D., Illés, A., Toth-Bencsik, R., Balicza, P., Pentelényi, K., Molnár, V., Gézsi, A., Grosz, Z., Gál, A., Kovacs, T., et al. (2022) · Neurological Sciences · doi:10.1007/s10072-022-06168-8 · Cited by 7 · see citing works

Loss of small GTPase Rab7 activation in prion infection negatively affects a feedback loop regulating neuronal cholesterol metabolism

Cherry, P., Li, L., Shim, S. Y., Ebacher, V., Tahir, W., Schätzl, H. M., Hannaoui, S., & Gilch, S. (2023) · Journal of Biological Chemistry · doi:10.1016/j.jbc.2023.102883 · Cited by 6 · see citing works

Clinical and Genetic Characteristics of the Heidenhain Variant of Creutzfeldt–Jakob Disease

Kong, Y., Chen, Z., Zhang, J., Wang, X., & Wu, L. (2023) · Viruses · doi:10.3390/v15051092 · Cited by 6 · see citing works

Neurodegenerative Diseases - Molecular Mechanisms and Current Therapeutic Approaches

Tunalı, N. E. (2020) · IntechOpen eBooks · doi:10.5772/intechopen.83153 · Cited by 6 · see citing works

A family with mental disorder as the first symptom finally confirmed with Gerstmann–Sträussler–Scheinker disease with P102L mutation in PRNP gene – case report

Chen, Z., Guo, J., Ran, N.-J., Zhong, Y., Yang, F., & Sun, H. (2023) · Prion · doi:10.1080/19336896.2023.2180255 · Cited by 6 · see citing works

Enhanced Facial Rejuvenation: Biostimulatory Effects of Hylan Gel Dermal Filler DX on Collagen Synthesis and Tissue Regeneration

Flores, R. M. O., Escamilla, A., Cidoncha-Morcillo, B., Mastronardi, L. M., Fontenete, S., & García‐Delgado, R. (2025) · Aesthetic Plastic Surgery · doi:10.1007/s00266-025-05245-5 · Cited by 6 · see citing works

Disease-Associated Q159X Mutant Prion Protein Is Sufficient to Cause Fatal Degenerative Disease in Mice

Zhang, Y., Yan, R., Zhang, X., & Ma, J. (2024) · Molecular Neurobiology · doi:10.1007/s12035-024-04224-2 · Cited by 5 · see citing works

Gerstmann-Sträussler-Scheinker syndrome misdiagnosed as cervical spondylotic myelopathy

Cao, L., Feng, H., Huang, X., Yi, J., & Zhou, Y. (2021) · Medicine · doi:10.1097/md.0000000000025687 · Cited by 5 · see citing works

Activation of Src family kinase ameliorates secretory trafficking in mutant prion protein cells

Restelli, E., Capone, V., Pozzoli, M., Ortolan, D., Quaglio, E., Corbelli, A., Fiordaliso, F., Beznoussenko, G. V., Artuso, V., Roiter, I., et al. (2021) · Journal of Biological Chemistry · doi:10.1016/j.jbc.2021.100490 · Cited by 5 · see citing works

“By the Time We Knew …”: Poetic Analysis of End‐of‐Life Caregiving Experiences for Rapidly Progressive and Slower‐Duration Dementia Syndromes

Harrison, K. L., Morgan, B. E., Friend, J., Garrett, S. B., Looi, D., Halim, M., James, J. E., Boyd, N. D., Gilissen, J., Geschwind, M. D., et al. (2025) · Journal of the American Geriatrics Society · doi:10.1111/jgs.19382 · Cited by 4 · see citing works

Octapeptide repeat alteration mutations of the prion protein gene in clinically diagnosed Alzheimer's disease and frontotemporal dementia

Nan, H., Liu, L., Chen, Z., Chu, M. K., Li, J., Jing, D., Wang, Y., & Wu, L. (2023) · Clinical Genetics · doi:10.1111/cge.14354 · Cited by 5 · see citing works

Clinical and Laboratory Features of Three Rare Chinese V210I gCJD Patients

Xiao, K., Zhou, W., Gao, L., Wu, Y.-Z., Wang, Y., Chen, C., Chen, G., Shi, Q., & Dong, X. (2020) · Pathogens · doi:10.3390/pathogens9100800 · Cited by 4 · see citing works

Genetic Creutzfeldt-Jakob disease linked to the E200K mutation: a large cohort study

Appleby, B. S., Manca, M., Piazza, M. S., Kerr, T. D., Cornacchia, A., Bizzi, A., Kraus, A., Cohen, M. L., & Calì, I. (2026) · Acta Neuropathologica · doi:10.1007/s00401-026-02975-x · Cited by 3 · see citing works

Noninvasive Antemortem Detection of Retinal Prions by a Fluorescent Tracer

Aguilar‐Calvo, P., Sevillano, A. M., Rasool, S., Cao, K., Randolph, L. M., Rissman, R. A., Sarraf, S. T., Yang, J., & Sigurdson, C. J. (2022) · Journal of Alzheimer s Disease · doi:10.3233/jad-220314 · Cited by 3 · see citing works

Genetics of Prion Disease

Mastrianni, J. A. (2023) · Springer eBooks · doi:10.1007/978-3-031-20565-1_19 · Cited by 3 · see citing works

General Method of Quantifying the Extent of Methionine Oxidation in the Prion Protein

Silva, C. J., & Erickson‐Beltran, M. L. (2023) · Journal of the American Society for Mass Spectrometry · doi:10.1021/jasms.2c00280 · Cited by 3 · see citing works

Genetics of Huntington’s disease and related disorders: beyond triplet repeats

Burgunder, J. (2024) · Ageing and Neurodegenerative Diseases · doi:10.20517/and.2023.49 · Cited by 3 · see citing works

Measuring prion propagation in single bacteria elucidates mechanism of lossPreprint

Jager, K., Orozco-Hidalgo, M. T., Springstein, B. L., Joly-Smith, E., Papazotos, F., McDonough, E., FLEMING, E. M., McCallum, G., Hilfinger, A., Hochschild, A., et al. (2023) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2023.01.11.523042 · Cited by 3 · see citing works

Circular RNA RORβ regulates TGFβR1 in alcohol-induced fibroblast-to-myofibroblast differentiation

Sueblinvong, V., Fan, X., Karmouty‐Quintana, H., Kopp, B. T., & Kang, B. (2025) · Scientific Reports · doi:10.1038/s41598-025-15040-6 · Cited by 2 · see citing works

Genetic and structural aspects of amyloid diseases

Rosenberg, G. M., Murray, K. A., Sawaya, M. R., Jiang, Y. X., Geschwind, D. H., & Eisenberg, D. S. (2025) · Science Translational Medicine · doi:10.1126/scitranslmed.adp3378 · Cited by 2 · see citing works

Comprehensive Characterization of 98 Chinese Cases of Genetic Creutzfeldt‐Jakob Disease With T188K Mutation

Li, C.-J., Liang, D.-L., Gao, L., Zhang, W. W., Zhou, W., Ruhan, A., Xu, B., Cao, R., Xiao, K., Chen, C., et al. (2026) · Annals of Clinical and Translational Neurology · doi:10.1002/acn3.70425 · Cited by 2 · see citing works

Phenotypic Variability and Anticipation in a Family of D178N-Familial Creutzfeldt-Jakob Disease

Sunny, A. S., Stezin, A., Balaji, B., Nataraja, P., & Thota, N. (2021) · Acta Scientific Neurology · doi:10.31080/asne.2021.04.0330 · Cited by 2 · see citing works

Amino Acid Substitution within Seven-Octapeptide Repeat Insertions in the Prion Protein Gene Associated with Short-Term Course

Chen, Z., Nan, H., Kong, Y., Chu, M. K., Liu, L., Zhang, J., Wang, L., & Wu, L. (2022) · Viruses · doi:10.3390/v14102245 · Cited by 2 · see citing works

Hypothesis: functional age and onset of autosomal dominant genetic prion disease

Bordonaro, M. (2023) · Theory in Biosciences · doi:10.1007/s12064-023-00389-x · Cited by 2 · see citing works

The First Sporadic Creutzfeldt–Jakob Disease Case with a Rare Molecular Subtype VV1 and 1-Octapeptide Repeat Deletion in PRNP

Areškevičiūtė, A., Lund, E. L., Capellari, S., Parchi, P., & Pinkowsky, C. T. (2021) · Viruses · doi:10.3390/v13102061 · Cited by 2 · see citing works

Human prion disease

Satoh, K., & Nakamura, T. (2021) · Clinical and Experimental Neuroimmunology · doi:10.1111/cen3.12683 · Cited by 2 · see citing works

Electrophysiological Investigations of Prion Protein Roles in Health and Disease

Foliaki, S. T., Groveman, B. R., & Haigh, C. L. (2019) · IntechOpen eBooks · doi:10.5772/intechopen.90049 · Cited by 2 · see citing works

Transcript errors generate a continuous stream of amyloid and prion-like proteins in human cellsPreprint

Chung, C. S., Kou, Y., Shemtov, S. J., Verheijen, B. M., Flores, I., Love, K., Dosso, A. D., Thorwald, M. A., Liu, Y., Toney, R. G., et al. (2023) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2023.05.11.540433 · Cited by 2 · see citing works

Human Prion Disease Surveillance

Appleby, B. S., Schonberger, L. B., & Belay, E. D. (2023) · Springer eBooks · doi:10.1007/978-3-031-20565-1_34 · Cited by 1 · see citing works

PRNP expression predicts imaging findings in sporadic Creutzfeldt‐Jakob disease

Broce, I., Caverzasi, E., Sacco, S., Nillo, R. M., Paoletti, M., Desikan, R. S., Geschwind, M. D., & Sugrue, L. P. (2023) · Annals of Clinical and Translational Neurology · doi:10.1002/acn3.51739 · Cited by 1 · see citing works

Geographic Diversity in the Incidence of Human Prion Diseases - China, 2006-2019.

Shi, Q., Xiao, K., Gao, L., Wu, Y.-Z., Zhou, W. M., Liang, D.-L., Chen, C., & Dong, X. (2023) · PubMed Central · doi:10.46234/ccdcw2023.181 · Cited by 1 · see citing works

Accumulation Area of a Japanese PRNP P102L Variant Associated With Gerstmann-Sträussler-Scheinker Disease: The Ariake PRNP P102L Variant

Suzuyama, K., Eriguchi, M., Minagawa, H., Honda, H., Kai, K., Kitamoto, T., & Hara, H. (2024) · Journal of Clinical Neurology · doi:10.3988/jcn.2023.0102 · Cited by 1 · see citing works

Isolated Diffuse Precentral Gyrus Signals in Creutzfeldt-Jakob Disease

Chen, Z., Wang, Z., & Wu, L. (2024) · JAMA Neurology · doi:10.1001/jamaneurol.2024.1466 · Cited by 1 · see citing works

A clinical case of fatal familial insomnia with a transient positive response to corticosteroids

Shpilyukova, Y. A., Seliverstov, Y. A., & Nuzhny, E. P. (2020) · Annals of Clinical and Experimental Neurology · doi:10.25692/acen.2020.4.12 · Cited by 1 · see citing works

Comparative Analysis of The Characteristics of The Chinese gCJD Patients With E196A and E196K Mutation in PRNPPreprint

Shi, Q., Xiao, K., Chen, C., Zhou, W., Gao, L., Wu, Y.-Z., Wang, Y., Hu, C., Gao, C., & Dong, X. (2021) · Research Square · doi:10.21203/rs.3.rs-375212/v1

Índice de prevalência e principais manifestações clínicas iniciais da insônia familiar fatal

Lustosa, N. G., dos Santos, L. B., de Sousa, V. A., da Silva, Á. G. F., Rodrigues, C. N. D. S., Duarte, G. G. D. M., & Soares, E. A. (2021) · Research Society and Development · doi:10.33448/rsd-v10i14.21719

Desperation and d'sespoir: gay activism in France

Wharton, S. (1995)

Prions

Prusiner, S. B. (2014) · Elsevier eBooks · doi:10.1016/b978-0-12-801238-3.00090-8

Behavioral Abnormalities and Cognitive Impairment in Rare Dementia Syndromes, Progressive Supranuclear Palsy, Huntington Disease and Sporadic Creutzfeldt-Jakob Disease

Keret, O. (2020) · Elsevier eBooks · doi:10.1016/b978-0-12-819641-0.00011-6

Biomarcadores diagnósticos de la enfermedad de Creutzfeld-Jakob

Jiménez, B. N., & Chercoles, A. G. (2023) · Revista de Medicina de Laboratorio · doi:10.20960/revmedlab.00125

Human prion diseases: An overview

Morales, R. P., Barrero-Hernández, F., & Aliaga–Martínez, L. (2023) · Medicina Clínica (English Edition) · doi:10.1016/j.medcle.2023.06.002

DOENÇA DE CREUTZFELDT-JAKOB FAMILIAR

Silva, A. L., tadini, A. C. N., de Camargos, V. L., & Mundim, F. G. L. (2023) · doi:10.22533/at.ed.2762329097

KURU

Brunhara, V. G., Machado, A. C. S., Amaral, D. V., & Santos, G. B. (2023) · doi:10.22533/at.ed.27623290915

DOENÇA DE CREUTZFELDT-JAKOB

Jorge, L. F., de Oliveira, M. C. G., Neto, S. A. M., & Romero, R. B. (2023) · doi:10.22533/at.ed.2762329091

CREUTZFELDT-JAKOB VARIANTE

Mendonça, H. D. S., Costa, L. C., Corrêa, M. L., & Romero, R. B. (2023) · doi:10.22533/at.ed.27623290917

INSÔNIA FAMILIAR FATAL

Agostini, H. L., Santos, J. D. C., Ferreira, M. C., & Santos, G. B. (2023) · doi:10.22533/at.ed.2762329099

Doenças priônicas: uma abordagem clínica

Romero, R. B., Júnior, A. D. O. F., Santos, G. B., & Mundim, F. G. L. (2023) · doi:10.22533/at.ed.276232909

Genetic prion disease: Experience of a rapidly progressive dementia center in the United States and a review of the literature

Takada, L. T., Kim, M., Cleveland, R. W., Wong, K., Forner, S. A., Illán‐Gala, I., Fong, J. C., & Geschwind, M. D. (2016) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32505 · Cited by 100 · see citing works

Liste Alphabétique Des Auteurs

(1985) · Biochimie · doi:10.1016/s0300-9084(85)80278-9

Prion disease

Takada, L. T., Kim, M., Metcalf, S., Illán‐Gala, I., & Geschwind, M. D. (2018) · Handbook of clinical neurology · doi:10.1016/b978-0-444-64076-5.00029-6 · Cited by 33 · see citing works

Clinical findings and diagnosis in genetic prion diseases in Germany

Krasnianski, A., Heinemann, U., Ponto, C., Kortt, J., Kallenberg, K., Varges, D., Schulz‐Schaeffer, W., Kretzschmar, H. A., & Zerr, I. (2015) · European Journal of Epidemiology · doi:10.1007/s10654-015-0049-y · Cited by 32 · see citing works

Mutations of the Prion Protein Gene

Kovács, G. G., Trabattoni, G., Hainfellner, J. A., Ironside, J. W., Knight, R., & Budka, H. (2002) · Journal of Neurology · doi:10.1007/s00415-002-0896-9 · Cited by 260 · see citing works