Quantifying prion disease penetrance using large population control cohorts

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Richards, S., Aziz, N., Bale, S., Bick, D., Das, S., Gastier-Foster, J., Grody, W. W., Hegde, M., Lyon, E., Spector, E., et al. (2015) · Genetics in Medicine · doi:10.1038/gim.2015.30 · Cited by 32,594

Integrative genomics viewer

Robinson, J. T., Thorvaldsdóttir, H., Winckler, W., Guttman, M., Lander, E. S., Getz, G., & Mesirov, J. P. (2011) · Nature Biotechnology · doi:10.1038/nbt.1754 · Cited by 15,390

Analysis of protein-coding genetic variation in 60,706 humans

Exome Aggregation Consortium, Lek, M., Karczewski, K. J., Minikel, E. V., Samocha, K. E., Banks, E., Fennell, T., O’Donnell-Luria, A. H., Ware, J. S., Hill, A. J., et al. (2016) · Nature · doi:10.1038/nature19057 · Cited by 9,587

Prions

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

ClinVar: public archive of relationships among sequence variation and human phenotype

Landrum, M. J., Lee, J. M., Riley, G. R., Jang, W., Rubinstein, W. S., Church, D. M., & Maglott, D. R. (2014) · Nucleic Acids Research · doi:10.1093/nar/gkt1113 · Cited by 3,516

Rapid and Accurate Haplotype Phasing and Missing-Data Inference for Whole-Genome Association Studies By Use of Localized Haplotype Clustering

Browning, S. R., & Browning, B. L. (2007) · The American Journal of Human Genetics · doi:10.1086/521987 · Cited by 3,217

ON ESTIMATING THE RELATION BETWEEN BLOOD GROUP AND DISEASE

Woolf, B. (1955) · Annals of Human Genetics · doi:10.1111/j.1469-1809.1955.tb01348.x · Cited by 2,724

Mice devoid of PrP are resistant to scrapie

Büeler, H., Aguzzi, A., Sailer, A. W., Greiner, R., Autenried, P., Aguet, M., & Weissmann, C. (1993) · Cell · doi:10.1016/0092-8674(93)90360-3 · Cited by 2,107

Normal development and behaviour of mice lacking the neuronal cell-surface PrP protein

Büeler, H., Fischer, M., Lang, Y., Bluethmann, H., Lipp, H., DeArmond, S. J., Prusiner, S. B., Aguet, M., & Weissmann, C. (1992) · Nature · doi:10.1038/356577a0 · Cited by 1,678

The Rotterdam Study: objectives and design update

Albert Hofman, D., Breteler, M. M. B., van Duijn, C. M., Krestin, G. P., Pols, H. A. P., Stricker, B. H. C., Tiemeier, H. W., Uitterlinden, A. G., Vingerling, J. R., & Witteman, J. C. M. (2007) · European Journal of Epidemiology · doi:10.1007/s10654-007-9199-x · Cited by 1,408

A polygenic burden of rare disruptive mutations in schizophrenia

Purcell, S. M., Moran, J. L., Fromer, M., Ruderfer, D., Solovieff, N., Roussos, P., O’Dushlaine, C., Chambert, K., Bergen, S. E., Kähler, A., et al. (2014) · Nature · doi:10.1038/nature12975 · Cited by 1,385

A copy number variation morbidity map of developmental delay

Cooper, G. M., Coe, B. P., Girirajan, S., Rosenfeld, J. A., Vu, T. H., Baker, C., Williams, C., Stalker, H., Hamid, R., Hannig, V., et al. (2011) · Nature Genetics · doi:10.1038/ng.909 · Cited by 1,351

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

Stenson, P. D., Mort, M. E., Ball, E. V., Shaw, K., Phillips, A. D., & Cooper, D. N. (2013) · Human Genetics · doi:10.1007/s00439-013-1358-4 · Cited by 1,350

Guidelines for investigating causality of sequence variants in human disease

MacArthur, D. G., Manolio, T. A., Dimmock, D. P., Rehm, H. L., Shendure, J., Abecasis, G. R., Adams, D. R., Altman, R. B., Antonarakis, S. E., Ashley, E. A., et al. (2014) · Nature · doi:10.1038/nature13127 · Cited by 1,224

A framework for the interpretation of de novo mutation in human disease

Samocha, K. E., Robinson, E. B., Sanders, S. J., Stevens, C., Sabo, A., McGrath, L. M., Kosmicki, J. A., Rehnström, K., Mallick, S., Kirby, A., et al. (2014) · Nature Genetics · doi:10.1038/ng.3050 · Cited by 979

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 927

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

Prion protein (PrP) with amino‐proximal deletions restoring susceptibility of PrP knockout mice to scrapie.

Fischer, M. B., Rülicke, T., Raeber, A. J., Sailer, A. W., Moser, M., Oesch, B., Brandner, S., Aguzzi, A., & Weissmann, C. (1996) · The EMBO Journal · doi:10.1002/j.1460-2075.1996.tb00467.x · Cited by 877

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 859

Depleting Neuronal PrP in Prion Infection Prevents Disease and Reverses Spongiosis

Mallucci, G. R., Dickinson, A., Linehan, J. M., Klöhn, P., Brandner, S., & Collinge, J. (2003) · Science · doi:10.1126/science.1090187 · Cited by 783

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 720

The genetic ancestry of African Americans, Latinos, and European Americans across the United States

Bryc, K., Durand, E. Y., Macpherson, J. M., Reich, D., & Mountain, J. L. (2015) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2014.11.010 · Cited by 712

A Method of Estimating Comparative Rates from Clinical Data. Applications to Cancer of the Lung, Breast, and Cervix

Cornfield, J. (1951) · JNCI Journal of the National Cancer Institute · doi:10.1093/jnci/11.6.1269 · Cited by 696

Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease

Cooper, D. N., Krawczak, M., Polychronakos, C., Tyler‐Smith, C., & Kehrer‐Sawatzki, H. (2013) · Human Genetics · doi:10.1007/s00439-013-1331-2 · Cited by 671

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

Chong, J. X., Buckingham, K. J., Jhangiani, S. N., Boehm, C., Sobreira, N., Smith, J. D., Harrell, T. M., McMillin, M. J., Wiszniewski, W., Gambin, T., et al. (2015) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2015.06.009 · Cited by 643

Prion biology and diseases.

Prusiner, S. B. (1991) · PubMed · Cited by 641

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

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 610

Spontaneous Neurodegeneration in Transgenic Mice with Mutant Prion Protein

Hsiao, K., Scott, M., FOSTER, D. B., Groth, D., DeArmond, S. J., & Prusiner, S. B. (1990) · Science · doi:10.1126/science.1980379 · Cited by 526

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

The Prion's Elusive Reason for Being

Aguzzi, A., Baumann, F., & Bremer, J. (2008) · Annual Review of Neuroscience · doi:10.1146/annurev.neuro.31.060407.125620 · Cited by 439

Axonal prion protein is required for peripheral myelin maintenance

Bremer, J., Baumann, F., Tiberi, C., Wessig, C., Fischer, H., Schwarz, P., Steele, A. D., Toyka, K. V., Nave, K., Weis, J., et al. (2010) · Nature Neuroscience · doi:10.1038/nn.2483 · Cited by 395

The Rotterdam Study: 2016 objectives and design update

Albert Hofman, D., Brusselle, G., Murad, S. D., van Duijn, C. M., Franco, O. H., Goedegebure, A., Ikram, M. A., Klaver, C. C. W., Nijsten, T. E. C., Peeters, R. P., et al. (2015) · European Journal of Epidemiology · doi:10.1007/s10654-015-0082-x · Cited by 385

The Penetrance of Copy Number Variations for Schizophrenia and Developmental Delay

Kirov, G., Rees, E., Walters, J. T. R., Escott-Price, V., Georgieva, L., Richards, A. L., Chambert, K. D., Davies, G., Legge, S. E., Moran, J. L., et al. (2014) · Biological Psychiatry · doi:10.1016/j.biopsych.2013.07.022 · Cited by 368

Production of cattle lacking prion protein

Richt, J. A., Kasinathan, P., Hamir, A. N., Castilla, J., Sathiyaseelan, T., Vargas, F., Sathiyaseelan, J., Wu, H., Matsushita, H., Koster, J. A., et al. (2006) · Nature Biotechnology · doi:10.1038/nbt1271 · Cited by 343

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 334

A new face and new challenges for Online Mendelian Inheritance in Man (OMIM®)

Amberger, J. S., Bocchini, C. A., & Hamosh, A. (2011) · Human Mutation · doi:10.1002/humu.21466 · Cited by 332

Prion disease genetics

Mead, S. (2006) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5201544 · Cited by 325

Genetics and molecular pathogenesis of sporadic and hereditary cerebral amyloid angiopathies

Révész, T., Holton, J. L., Lashley, T., Plant, G. T., Frangione, B., Rostagno, A. A., & Ghiso, J. A. (2009) · Acta Neuropathologica · doi:10.1007/s00401-009-0501-8 · Cited by 300

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 279

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 258

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 248

MTM1 mutations in X-linked myotubular myopathy

Laporte, J., Biancalana, V., Tanner, S. M., Kreß, W., Schneider, V., Wallgren‐Pettersson, C., Herger, F., Buj‐Bello, A., Blondeau, F., Liechti‐Gallati, S., et al. (2000) · Human Mutation · doi:10.1002/(sici)1098-1004(200005)15:5 · Cited by 246

On the use of familial aggregation in population-based case probands for calculating penetrance.

Begg, C. (2002) · Journal of the National Cancer Institute · doi:10.1093/jnci/94.16.1221 · Cited by 226

Fatal familial insomnia

Medori, R., Montagna, P., Tritschler, H. J., LeBlanc, A. C., Cortelli, P., Tinuper, P., Lugaresi, E., & Gambetti, P. L. (1992) · Neurology · doi:10.1212/wnl.42.3.669 · Cited by 205

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

Single treatment with RNAi against prion protein rescues early neuronal dysfunction and prolongs survival in mice with prion disease

White, M. D., Farmer, M., Mirabile, I., Brandner, S., Collinge, J., & Mallucci, G. R. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0802759105 · Cited by 203

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 200

High Prevalence of Pathogenic Mutations in Patients with Early-Onset Dementia Detected by Sequence Analyses of Four Different Genes

Finckh, U., Müller‐Thomsen, T., Mann, U. M., Eggers, C., Marksteiner, J., Meins, W., Binetti, G. G., Alberici, A., Höck, C., Nitsch, R. M., et al. (2000) · The American Journal of Human Genetics · doi:10.1086/302702 · Cited by 193

An Amber Mutation of Prion Protein in Gerstmann-Sträussler Syndrome with Mutant PrP Plaques

Kitamoto, T., Iizuka, R., & Tateishi, J. (1993) · Biochemical and Biophysical Research Communications · doi:10.1006/bbrc.1993.1447 · Cited by 190

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

Mutation in codon 200 of scrapie amyloid precursor gene linked to Creutzfeldt-Jakob disease in Sephardic Jews of Libyan and non-Libyan origin

Goldfarb, L. G., Korczyn, A. D., Brown, P., Chapman, J., & Gajdusek, D. C. (1990) · The Lancet · doi:10.1016/0140-6736(90)93443-s · Cited by 181

New mutation in scrapie amyloid precursor gene (at codon 178) in Finnish Creutzfeldt-Jakob kindred

Goldfarb, L. G., Haltia, M., Brown, P., Nieto, A., Kovanen, J., McCombie, W. R., Trapp, S., & Gajdusek, D. C. (1991) · The Lancet · doi:10.1016/0140-6736(91)91198-4 · Cited by 169

Codon 219 lys allele of PRNP is not found in sporadic Creutzfeldt‐Jakob disease

Shibuya, S., Higuchi, J., Shin, R., Tateishi, J., & Kitamoto, T. (1998) · Annals of Neurology · doi:10.1002/ana.410430618 · Cited by 163

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

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

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

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

Spontaneous Generation of Prion Infectivity in Fatal Familial Insomnia Knockin Mice

Jackson, W. S., Borkowski, A. W., Faas, H., Steele, A. D., King, O. D., Watson, N., Jasanoff, A., & Lindquist, S. L. (2009) · Neuron · doi:10.1016/j.neuron.2009.07.026 · Cited by 145

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

Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes

Flannick, J., Beer, N. L., Bick, A. G., Agarwala, V., Molnes, J., Gupta, N., Burtt, N. P., Florez, J. C., Meigs, J. B., Taylor, H., et al. (2013) · Nature Genetics · doi:10.1038/ng.2794 · Cited by 136

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

Evaluation of LRRK2 G2019S penetrance

Goldwurm, S., Zini, M., Mariani, L., Tesei, S., Miceli, R., Sironi, F. M., Clementi, M., Bonifati, V., & Pezzoli, G. (2007) · Neurology · doi:10.1212/01.wnl.0000254483.19854.ef · Cited by 132

Mutant Prion Protein Expression Causes Motor and Memory Deficits and Abnormal Sleep Patterns in a Transgenic Mouse Model

Dossena, S., Imeri, L., Mangieri, M., Garofoli, A., Ferrari, L. L., Senatore, A., Restelli, E., Balducci, C., Fiordaliso, F., Salio, M., et al. (2008) · Neuron · doi:10.1016/j.neuron.2008.09.008 · Cited by 131

Burden of Rare Sarcomere Gene Variants in the Framingham and Jackson Heart Study Cohorts

Bick, A. G., Flannick, J. A., Ito, K., Cheng, S. C., Vasan, R. S., Parfenov, M. G., Herman, D. S., DePalma, S. R., Gupta, N., Gabriel, S., et al. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2012.07.017 · Cited by 130

Fatal Transmissible Amyloid Encephalopathy: A New Type of Prion Disease Associated with Lack of Prion Protein Membrane Anchoring

Chesebro, B. W., Race, B., Meade-White, K. D., LaCasse, R. A., Race, R., Klingeborn, M., Striebel, J. F., Dorward, D. W., McGovern, G., & Jeffrey, M. (2010) · PLoS Pathogens · doi:10.1371/journal.ppat.1000800 · Cited by 128

Hardy, Weinberg and Language Impediments

Crow, J. F. (1999) · Genetics · doi:10.1093/genetics/152.3.821 · Cited by 127

The genetics of prion diseases

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

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 124

Prion clearance in bigenic mice

Safar, J., DeArmond, S. J., Kociuba, K., Deering, C., Didorenko, S., Bouzamondo, E., Prusiner, S. B., & Tremblay, P. (2005) · Journal of General Virology · doi:10.1099/vir.0.80947-0 · Cited by 120

Human Prion Diseases in the United States

Holman, R. C., Belay, E. D., Christensen, K. L. Y., Maddox, R. A., Miniño, A., Folkema, A. M., Haberling, D. L., Hammett, T. A., Kochanek, K. D., Sejvar, J. J., et al. (2009) · PLoS ONE · doi:10.1371/journal.pone.0008521 · Cited by 112

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 111

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

Distinct glycoform ratios of protease resistant prion protein associated with PRNP point mutations

Hill, A. F., Joiner, S., Beck, J. A., Campbell, T., Dickinson, A., Poulter, M., Wadsworth, J. D. F., & Collinge, J. (2006) · Brain · doi:10.1093/brain/awl013 · Cited by 110

A new point mutation of the prion protein gene in Creutzfeldt‐Jakob disease

Pocchiari, M., Salvatore, M., Cutruzzolà, F., Genuardi, M., Travaglini‐Allocatelli, C., Masullo, C., Macchi, G., Alemà, G., Galgani, S., Xi, Y. G., et al. (1993) · Annals of Neurology · doi:10.1002/ana.410340608 · Cited by 108

Ancestry Composition: A Novel, Efficient Pipeline for Ancestry Deconvolution

Durand, E. Y., Do, C. B., Mountain, J. L., & Macpherson, J. M. (2014) · doi:10.1101/010512 · Cited by 108

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

Unique drug screening approach for prion diseases identifies tacrolimus and astemizole as antiprion agents

Karapetyan, Y. E., Sferrazza, G. F., Zhou, M., Ottenberg, G. K., Spicer, T., Chase, P. S., Fallahi, M., Hodder, P., Weissmann, C., & Lasmézas, C. I. (2013) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1303510110 · Cited by 100

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

Seroepidemiological study of filovirus related to Ebola in the Philippines

Miranda, M. E., White, M., Mm, D., Cg, H., Ksiazek, T., & Burans, J. (1991) · The Lancet · doi:10.1016/0140-6736(91)91199-5 · Cited by 94

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

The risk of developing Creutzfeldt‐Jakob disease in subjects with the PRNP gene codon 200 point mutation

Chapman, J., Ben-Israel, J., Goldhammer, Y., & Korczyn, A. D. (1994) · Neurology · doi:10.1212/wnl.44.9.1683 · Cited by 92

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

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

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

Laplanche, J., Hachimi, K. H. E., Durieux, I., Thuillet, P., Defebvre, L., Delasnerie-Lauprêtre, N., Peoc’h, K., Foncin, J. F., & Destée, A. (1999) · Brain · doi:10.1093/brain/122.12.2375 · Cited by 89

Loss of glycosylation associated with the T183A mutation in human prion disease

Grasbon-Frodl, E. M., Lorenz, H., Mann, U. M., Nitsch, R. M., Windl, O., & Kretzschmar, H. A. (2004) · Acta Neuropathologica · doi:10.1007/s00401-004-0913-4 · Cited by 87

Gerstmann‐Straussler‐Scheinker disease. I. Extending the clinical spectrum

Farlow, M. R., Yee, R. D., Dlouhy, S. R., Conneally, P. M., Azzarelli, B., & Ghetti, B. F. (1989) · Neurology · doi:10.1212/wnl.39.11.1446 · Cited by 86

Liposome-siRNA-Peptide Complexes Cross the Blood-Brain Barrier and Significantly Decrease PrPC on Neuronal Cells and PrPRES in Infected Cell Cultures

Pulford, B., Reim, N., Bell, A., Veatch, J., Forster, G., Bender, H., Meyerett, C., Hafeman, S., Michel, B., Johnson, T., et al. (2010) · PLoS ONE · doi:10.1371/journal.pone.0011085 · Cited by 85

Hunting human disease genes: lessons from the past, challenges for the future

Brunham, L. R., & Hayden, M. R. (2013) · Human Genetics · doi:10.1007/s00439-013-1286-3 · Cited by 84

Healthy goats naturally devoid of prion protein

Benestad, S. L., Austbø, L., Tranulis, M. A., Espenes, A., & Olsaker, I. (2012) · Veterinary Research · doi:10.1186/1297-9716-43-87 · Cited by 83

Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP

Mead, S., Uphill, J. B., Beck, J., Poulter, M., Campbell, T., Lowe, J., Adamson, G., Hummerich, H., Klopp, N., Rückert, I., et al. (2011) · Human Molecular Genetics · doi:10.1093/hmg/ddr607 · Cited by 83

High incidence of genetic human transmissible spongiform encephalopathies in Italy

Ladogana, A., Puopolo, M., Poleggi, A., Almonti, S., Mellina, V., Equestre, M., & Pocchiari, M. (2005) · Neurology · doi:10.1212/01.wnl.0000160118.26865.11 · Cited by 81

Transgenic Fatal Familial Insomnia Mice Indicate Prion Infectivity-Independent Mechanisms of Pathogenesis and Phenotypic Expression of Disease

Bouybayoune, I., Mantovani, S., Del Gallo, F., Bertani, I., Restelli, E., Comerio, L., Tapella, L., Baracchi, F., Fernández-Borges, N., Mangieri, M., et al. (2015) · PLOS Pathogens · doi:10.1371/journal.ppat.1004796 · Cited by 81

Spontaneous generation of anchorless prions in transgenic mice

Stöhr, J., Watts, J. C., Legname, G., Oehler, A., Lemus, A., Nguyen, H.-O. B., Sussman, J., Wille, H., DeArmond, S. J., Prusiner, S. B., et al. (2011) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1117827108 · Cited by 80

Familial prion disease with alzheimer disease‐like tau pathology and clinical phenotype

Jayadev, S., Nochlin, D., Poorkaj, P., Steinbart, E. J., Mastrianni, J. A., Montine, T. J., Ghetti, B. F., Schellenberg, G. D., Bird, T. D., & Leverenz, J. B. (2011) · Annals of Neurology · doi:10.1002/ana.22264 · Cited by 76

A New PRNP Mutation (G131V) Associated With Gerstmann-Sträussler-Scheinker Disease

Panegyres, P. K. (2001) · Archives of Neurology · doi:10.1001/archneur.58.11.1899 · Cited by 76

Intensity of human prion disease surveillance predicts observed disease incidence

Klug, G. M., Wand, H. C., Simpson, M. A., Boyd, A., Law, M. G., Masters, C. L., Matěj, R., Howley, R., Farrell, M., Breithaupt, M., et al. (2013) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp-2012-304820 · Cited by 75

A new point mutation in the prion protein gene at codon 210 in Creutzfeldt‐Jakob disease

Ripoll, L., Laplanche, J., Salzmann, M., Jouvet, A., Planques, B., Dussaucy, M., Chatelain, J., Beaudry, P., & Launay, J. (1993) · Neurology · doi:10.1212/wnl.43.10.1934 · Cited by 74

Creutzfeldt-Jakob disease with E200K mutation in Slovakia: characterization and development.

Mitrova, E., & Belay, G. (2002) · PubMed · Cited by 72

Prion disease (PrP‐A117V) presenting with ataxia instead of dementia

Mastrianni, J. A., Curtis, M., Oberholtzer, J. C., Costa, M. M., DeArmond, S. J., Prusiner, S. B., & Garbern, J. Y. (1995) · Neurology · doi:10.1212/wnl.45.11.2042 · Cited by 70

A New Transgenic Mouse Model of Gerstmann–Sträussler–Scheinker Syndrome Caused by the A117V Mutation ofPRNP

Yang, W., Cook, J., Rassbach, B., Lemus, A., DeArmond, S. J., & Mastrianni, J. A. (2009) · Journal of Neuroscience · doi:10.1523/jneurosci.2542-09.2009 · Cited by 67

PRNP variation in UK sporadic and variant Creutzfeldt Jakob disease highlights genetic risk factors and a novel non-synonymous polymorphism

Bishop, M., Pennington, C. M., Heath, C. A., Will, R. G., & Knight, R. (2009) · BMC Medical Genetics · doi:10.1186/1471-2350-10-146 · Cited by 65

A prion disease with a novel 96-base pair insertional mutation in the prion protein gene

Campbell, T., Palmer, M. S., Will, R. G., Gibb, W. R. G., Luthert, P. J., & Collinge, J. (1996) · Neurology · doi:10.1212/wnl.46.3.761 · Cited by 64

Creutzfeldt–Jakob disease with a novel four extra-repeat insertional mutation in the PrP gene

Rossi, G., Giaccone, G., Giampaolo, L., Iussich, S., Puoti, G., Frigo, M., Cavaletti, G., Frattola, L., Bugiani, O., & Tagliavini, F. (2000) · Neurology · doi:10.1212/wnl.55.3.405 · Cited by 64

Intracerebral Infusion of Antisense Oligonucleotides Into Prion-infected Mice

Nazor, K. E., Hung, G., Wancewicz, E. V., Giles, K., Black, C., Freier, S., Bennett, F., DeArmond, S. J., Freyman, Y., Lessard, P., et al. (2012) · Molecular Therapy — Nucleic Acids · doi:10.1038/mtna.2011.6 · Cited by 63

Two-octapeptide repeat deletion of prion protein associated with rapidly progressive dementia

Beck, J. A., Mead, S., Campbell, T., Dickinson, A., Wientjens, D., Croes, E. A., van Duijn, C. M., & Collinge, J. (2001) · Neurology · doi:10.1212/wnl.57.2.354 · Cited by 63

Two novel insertions in the prion protein gene in patients with lateonset dementia

Laplanche, J., Delasnerie-Lauprêtre, N., Brandel, J., Dussaucy, M., Chatelain, J., & Launay, J. (1995) · Human Molecular Genetics · doi:10.1093/hmg/4.6.1109 · Cited by 60

Generation of goats lacking prion protein

Yu, G., Chen, J., Xu, Y., Zhu, C., Yu, H., Liu, S., Sha, H., Chen, J., Xu, X., Wu, Y., et al. (2008) · Molecular Reproduction and Development · doi:10.1002/mrd.20960 · Cited by 57

The Features of Genetic Prion Diseases Based on Chinese Surveillance Program

Shi, Q., Zhou, W. M., Chen, C., Zhang, B., Xiao, K., Zhang, X., Shen, X., Li, Q., Deng, L., Dong, J.-H., et al. (2015) · PLoS ONE · doi:10.1371/journal.pone.0139552 · Cited by 56

Mutation of the prion protein gene at codon 208 in familial Creutzfeldt-Jakob disease

Mastrianni, J. A., Iannicola, C., Myers, R., DeArmond, S. J., & Prusiner, S. B. (1996) · Neurology · doi:10.1212/wnl.47.5.1305 · Cited by 53

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

Kim, M., Calì, I., Oehler, A., Fong, J. C., Wong, K., See, T. M., Katz, J., Gambetti, P. L., Bettcher, B. M., DeArmond, S. J., et al. (2013) · Acta Neuropathologica Communications · doi:10.1186/2051-5960-1-80 · Cited by 53

Profoundly different prion diseases in knock-in mice carrying single PrP codon substitutions associated with human diseases

Jackson, W. S., Borkowski, A. W., Watson, N., King, O. D., Faas, H., Jasanoff, A., & Lindquist, S. L. (2013) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1312006110 · Cited by 53

A NovelPRNP Y218NMutation in Gerstmann-Sträussler-Scheinker Disease With Neurofibrillary Degeneration

Alzualde, A., Indakoetxea, B., Ferrer, I., Moreno, F., Barandiarán, M., Gorostidi, A., Estanga, A., Ruiz, I., Calero, M., van Leeuwen, F. W., et al. (2010) · Journal of Neuropathology & Experimental Neurology · doi:10.1097/nen.0b013e3181e85737 · Cited by 52

An inherited prion disease with a PrP P105L mutation

Yamada, M., Itoh, Y., Inaba, A., Wada, Y., Takashima, M., Satoh, S., Kamata, T., Okeda, R., Kayano, T., Suematsu, N., et al. (1999) · Neurology · doi:10.1212/wnl.53.1.181 · Cited by 52

Molecular genetics of human prion diseases

Collinge, J., & Palmer, M. S. (1994) · Philosophical Transactions of the Royal Society B Biological Sciences · doi:10.1098/rstb.1994.0031 · Cited by 52

Human Prion Diseases in The Netherlands (1998–2009): Clinical, Genetic and Molecular Aspects

Jansen, C., Parchi, P., Capellari, S., Ibrahim‐Verbaas, C. A., Schuur, M., Strammiello, R., Corrado, P., Bishop, M., van Gool, W. A., Verbeek, M. M., et al. (2012) · PLoS ONE · doi:10.1371/journal.pone.0036333 · Cited by 51

A novel mutation (G114V) in the prion protein gene in a family with inherited prion disease

Rodriguez, M. M., Peoc’h, K., Haı̈k, S., Bouchet, C., Vernengo, L., Mañana, G., Salamano, R., Carrasco, L., Lenne, M., Beaudry, P., et al. (2005) · Neurology · doi:10.1212/01.wnl.0000158618.39527.93 · Cited by 49

Double mutations at codon 180 and codon 232 of the PRNP gene in an apparently sporadic case of Creutzfeldt-Jakob disease

HITOSHI, S., Nagura, H., Yamanouchi, H., & Kitamoto, T. (1993) · Journal of the Neurological Sciences · doi:10.1016/0022-510x(93)90275-4 · Cited by 48

Mutation in the prion protein gene at codon 232 in Japanese patients with Creutzfeldt-Jakob disease: a clinicopathological, immunohistochemical and transmission study

Hoque, M. Z., Kitamoto, T., Furukawa, H., Muramoto, T., & Tateishi, J. (1996) · Acta Neuropathologica · doi:10.1007/s004010050544 · Cited by 48

Novel prion protein gene mutation presenting with subacute PSP-like syndrome

Rowe, D. B., Lewis, V., Needham, M., Rodríguez, M. E., Boyd, A., McLean, C., Roberts, H., Masters, C. L., & Collins, S. J. (2007) · Neurology · doi:10.1212/01.wnl.0000256819.61531.98 · Cited by 47

A new prion disease: relationship with central and peripheral amyloidoses

Mead, S., & Reilly, M. M. (2015) · Nature Reviews Neurology · doi:10.1038/nrneurol.2014.263 · Cited by 47

V180I mutation of the prion protein gene associated with atypical PrPSc glycosylation

Chasseigneaux, S., Haı̈k, S., Laffont-Proust, I., Marco, O. D., Lenne, M., Brandel, J., Hauw, J., Laplanche, J., & Peoc’h, K. (2006) · Neuroscience Letters · doi:10.1016/j.neulet.2006.08.008 · Cited by 46

Creutzfeldt-Jakob Disease (CJD) with a Mutation at Codon 148 of Prion Protein Gene

Pastore, M., Chin, S., Bell, K. L., Dong, Z., Yang, Q., Yang, L., Yuan, J., Chen, S. G., Gambetti, P. L., & Zou, W. (2005) · American Journal Of Pathology · doi:10.1016/s0002-9440(10)61254-0 · Cited by 44

Novel Prion Protein Gene Mutation in an Octogenarian With Creutzfeldt-Jakob Disease

Collins, S. J., Boyd, A., Fletcher, A., Byron, K. A., Harper, C. C., McLean, C., & Masters, C. L. (2000) · Archives of Neurology · doi:10.1001/archneur.57.7.1058 · Cited by 44

A missense mutation at codon 105 with codon 129 polymorphism of the prison protein gene in a new variant of Gerstmann‐Strassler‐Scheinker disease

Yamada, M., Itoh, Y., Fujigasaki, H., Naruse, S., Kaneko, K., Kitamoto, T., Tateishi, J., Otomo, E., Hayakawa, M., Tanaka, J., et al. (1993) · Neurology · doi:10.1212/wnl.43.12.2723-a · Cited by 44

Reducing Pervasive False-Positive Identical-by-Descent Segments Detected by Large-Scale Pedigree Analysis

Durand, E. Y., Eriksson, N., & McLean, C. Y. (2014) · Molecular Biology and Evolution · doi:10.1093/molbev/msu151 · Cited by 44

Creutzfeldt-Jakob disease associated with the R208H mutation in the prion protein gene

Capellari, S., Cardone, F., Notari, S., Schininà, M. E., Maras, B., Sità, D., Baruzzi, A., Pocchiari, M., & Parchi, P. (2005) · Neurology · doi:10.1212/01.wnl.0000152837.82388.de · Cited by 43

Inherited prion encephalopathy associated with the novel PRNP H187R mutation

Bütefisch, C. M., Gambetti, P. L., Červen̆áková, L., Park, K.-Y., Hallett, M., & Goldfarb, L. G. (2000) · Neurology · doi:10.1212/wnl.55.4.517 · Cited by 43

Creutzfeldt–Jakob disease in Australia 1970–1999

Collins, S. J., Boyd, A., Lee, J. S., Lewis, V., Fletcher, A. A., McLean, C., Law, M. G., Kaldor, J. M., Smith, M. J., & Masters, C. L. (2002) · Neurology · doi:10.1212/01.wnl.0000031793.11602.8c · Cited by 42

Ascertainment Bias Causes False Signal of Anticipation in Genetic Prion Disease

Minikel, E. V., Zerr, I., Collins, S. J., Ponto, C., Boyd, A., Klug, G. M., Karch, A., Kenny, J., Collinge, J., Takada, L. T., et al. (2014) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2014.09.003 · Cited by 41

Creutzfeldt–Jakob disease associated with a deletion of two repeats in the prion protein gene

Capellari, S., Parchi, P., Wolff, B., Campbell, J., Atkinson, R., Posey, D., Petersen, R. B., & Gambetti, P. L. (2002) · Neurology · doi:10.1212/01.wnl.0000035533.86833.28 · Cited by 39

High incidence of Creutzfeldt-Jakob disease in rural Calabria, Italy

D'Alessandro, M., Petraroli, R. P., Ladogana, A., & Pocchiari, M. (1998) · The Lancet · doi:10.1016/s0140-6736(05)61335-9 · Cited by 38

Creutzfeldt-Jakob disease in a patient with an R208H mutation of the prion protein gene (PRNP) and a 17-kDa prion protein fragment

Roeber, S., Krebs, B., Neumann, M., Windl, O., Zerr, I., Grasbon‐Frodl, E., & Kretzschmar, H. A. (2005) · Acta Neuropathologica · doi:10.1007/s00401-004-0978-0 · Cited by 34

A novel familial prion disease causing pan‐autonomic‐sensory neuropathy and cognitive impairment

Matsuzono, K., Ikeda, Y., Liu, W., Kurata, T., Deguchi, S., Deguchi, K., & Abe, K. (2013) · European Journal of Neurology · doi:10.1111/ene.12089 · Cited by 33

Substitutions at residue 211 in the prion protein drive a switch between CJD and GSS syndrome, a new mechanism governing inherited neurodegenerative disorders

Peoc’h, K., Levavasseur, E., Delmont, É., Simone, A. D., Laffont-Proust, I., Privat, N., Chebaro, Y., Chapuis, C., Bedoucha, P., Brandel, J., et al. (2012) · Human Molecular Genetics · doi:10.1093/hmg/dds377 · Cited by 33

Inherited prion disease with 4-octapeptide repeat insertion: disease requires the interaction of multiple genetic risk factors

Kaski, D. N., Pennington, C. M., Beck, J. A., Poulter, M., Uphill, J. B., Bishop, M., Linehan, J. M., O’Malley, C., Wadsworth, J. D. F., Joiner, S., et al. (2011) · Brain · doi:10.1093/brain/awr079 · Cited by 31

A novel PRNP -P105S mutation associated with atypical prion disease and a rare PrP Sc conformation

Tunnell, E., Wollman, R., Mallik, S., Cortés, C. J., DeArmond, S. J., & Mastrianni, J. A. (2008) · Neurology · doi:10.1212/01.wnl.0000330237.94742.fa · Cited by 29

Clinical Characterization of a Kindred With a Novel 12-Octapeptide Repeat Insertion in the Prion Protein Gene

Kumar, N., Boeve, B. F., Boot, B. P., Orr, C., Duffy, J. R., Woodruff, B. K., Nair, A. K., Ellison, J. W., Kuntz, K., Kantarci, K., et al. (2011) · Archives of Neurology · doi:10.1001/archneurol.2011.187 · Cited by 29

Novel prion protein insert mutation associated with prolonged neurodegenerative illness

Lewis, V., Collins, S. J., Hill, A. F., Boyd, A., McLean, C., Smith, M. J., & Masters, C. L. (2003) · Neurology · doi:10.1212/01.wnl.0000065887.14609.0e · Cited by 28

PRNP mutations in a series of apparently sporadic neurodegenerative dementias in China

Liu, Z., Longfei, J., Jing, Y., Zhang, X., Haiqing, S., Haiyan, L., Wang, F., Xiu-min, D., & Jia, J. (2008) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.30761 · Cited by 28

Predictive testing for inherited prion disease: report of 22 years experience

Owen, J., Beck, J. A., Campbell, T., Adamson, G., Gorham, M., Thompson, A. G. B., Smithson, S., Rosser, E., Rudge, P., Collinge, J., et al. (2014) · European Journal of Human Genetics · doi:10.1038/ejhg.2014.42 · Cited by 27

Mortality trend from sporadic Creutzfeldt-Jakob disease (CJD) in Italy, 1993–2000

Puopolo, M., Ladogana, A., Almonti, S., Daude, N., Bevivino, S., Petraroli, R. P., Poleggi, A., Quanguo, L., & Pocchiari, M. (2003) · Journal of Clinical Epidemiology · doi:10.1016/s0895-4356(02)00606-6 · Cited by 26

A novel mutation I215V in the PRNP gene associated with Creutzfeldt–Jakob and Alzheimer’s diseases in three patients with divergent clinical phenotypes

Muñoz-Nieto, M., Ramonet, N., López-Gastón, J. I., Cuadrado‐Corrales, N., Calero, O., Díaz-Hurtado, M., Ipiens, J. R., y Cajal, S. R., de Pedro‐Cuesta, J., & Calero, M. (2012) · Journal of Neurology · doi:10.1007/s00415-012-6588-1 · Cited by 26

Evidence for a Pathogenic Role of Different Mutations at Codon 188 of PRNP

Roeber, S., Grasbon‐Frodl, E., Windl, O., Krebs, B., Xiang, W., Vollmert, C., Illig, T., Schröter, A., Arzberger, T., Weber, P., et al. (2008) · PLoS ONE · doi:10.1371/journal.pone.0002147 · Cited by 26

Genetic Creutzfeldt–Jakob disease with R208H mutation presenting as progressive supranuclear palsy

Matěj, R., Kovács, G. G., Johanidesová, S., Keller, J., Matějčková, M., Nováková, J., Šigut, V., Keller, O., & Rusina, R. (2012) · Movement Disorders · doi:10.1002/mds.24002 · Cited by 26

Novel compounds lowering the cellular isoform of the human prion protein in cultured human cells

Silber, B. M., Gever, J. R., Rao, S., Li, Z., Renslo, A. R., Widjaja, K., Wong, C., Giles, K., Freyman, Y., Elepano, M., et al. (2014) · Bioorganic & Medicinal Chemistry · doi:10.1016/j.bmc.2014.01.001 · Cited by 25

Gerstmann-Straüssler-Scheinker disease

Jones, M. S., Odunsi, S., du Plessis, D., Vincent, A. C., Bishop, M., Head, M. W., Ironside, J. W., & Gow, D. L. (2014) · Neurology · doi:10.1212/wnl.0000000000000500 · Cited by 25

Atypical Prion Protein Conformation in Familial Prion Disease with PRNP P105T Mutation

Polymenidou, M., Prokop, S., Jung, H. H., Hewer, E., Peretz, D., Moos, R., Tolnay, M., & Aguzzi, A. (2010) · Brain Pathology · doi:10.1111/j.1750-3639.2010.00439.x · Cited by 25

Creutzfeldt-Jakob disease with the V203I mutation and M129V polymorphism of the prion protein gene (PRNP) and a 17 kDa prion protein fragment

Jeong, B., Jeon, Y., Lee, Y., Cho, H.-J., Park, S. J., Chung, D.-I., Kim, J., Kim, S. H., Ht, K., Choi, E., et al. (2010) · Neuropathology and Applied Neurobiology · doi:10.1111/j.1365-2990.2010.01094.x · Cited by 24

Mutation at codon 210 (V210I) of the prion protein gene in a North African patient with Creutzfeldt-Jakob disease

Mouillet‐Richard, S., Teil, C., Lenne, M., Hugon, S., Taleb, O., & Laplanche, J. (1999) · Journal of the Neurological Sciences · doi:10.1016/s0022-510x(99)00179-3 · Cited by 24

Creutzfeldt-Jakob disease with a novel extra-repeat insertional mutation in the PRNP gene

Pietrini, V., Puoti, G., Limido, L., Rossi, G., Fede, G. D., Giaccone, G., Mangieri, M., F, T., Bondavalli, A., Mancia, D., et al. (2003) · Neurology · doi:10.1212/01.wnl.0000092017.74772.ca · Cited by 23

Creutzfeldt-Jakob disease with PRNP G114V mutation in a Chinese family

Liu, Z., Jia, L., Piao, Y.-S., Lü, D., Wang, F., Lv, H., Lu, Y., & Jia, J. (2009) · Acta Neurologica Scandinavica · doi:10.1111/j.1600-0404.2009.01236.x · Cited by 22

Gerstmann-Sträussler-Scheinker disease due to a novel prion protein gene mutation

Hinnell, C., Coulthart, M., Jansen, G. H., Cashman, N. R., Lauzon, J., Clark, A., Costello, F., White, C., Midha, R., Wiebe, S. A., et al. (2011) · Neurology · doi:10.1212/wnl.0b013e31820a0ab2 · Cited by 22

Childhood Onset in Familial Prion Disease With a Novel Mutation in the PRNP Gene

Rogaeva, E. A., Zadikoff, C., Ponesse, J. S., Schmitt‐Ulms, G., Kawarai, T., Sato, C., Salehi‐Rad, S., George‐Hyslop, P. S., & Lang, A. E. (2006) · Archives of Neurology · doi:10.1001/archneur.63.7.1016 · Cited by 22

Familial Creutzfeldt-Jakob Disease With an R208H-129V Haplotype and Kuru Plaques

Basset-Leobon, C., Uro‐Coste, E., Peoc’h, K., Haı̈k, S., Sazdovitch, V., Rigal, M., Andréoletti, O., Hauw, J., & Delisle, M. (2006) · Archives of Neurology · doi:10.1001/archneur.63.3.449 · Cited by 22

Prion protein gene M232R variation is probably an uncommon polymorphism rather than a pathogenic mutation

Beck, J. A., Collinge, J., & Mead, S. (2011) · Brain · doi:10.1093/brain/awr294 · Cited by 22

Creutzfeldt–Jakob disease with a novel insertion and codon 219 Lys/Lys polymorphism in PRNP

Nishida, Y., Sodeyama, N., Toru, Y., Toru, S., Kitamoto, T., & Mizusawa, H. (2004) · Neurology · doi:10.1212/01.wnl.0000144196.43430.e1 · Cited by 21

Unusual Clinical and Molecular-Pathological Profile of Gerstmann-Sträussler-Scheinker Disease Associated With a NovelPRNPMutation (V176G)

Simpson, M. A., Johanssen, V. A., Boyd, A., Klug, G. M., Masters, C. L., Li, Q., Pamphlett, R., McLean, C., Lewis, V., & Collins, S. J. (2013) · JAMA Neurology · doi:10.1001/jamaneurol.2013.165 · Cited by 20

Novel mutation of the PRNPgene of a clinical CJD case

Kotta, K., Paspaltsis, I., Bostantjopoulou, S., Latsoudis, H., Plaitakis, A., Kazis, D. A., Collinge, J., & Sklaviadis, T. (2006) · BMC Infectious Diseases · doi:10.1186/1471-2334-6-169 · Cited by 20

Rare V180I mutation in PRNP gene of a Chinese patient with Creutzfeldt-Jacob disease

Shi, Q., Shen, X.-J., Zhou, W., Xiao, K., Zhang, X., Zhang, B., & Dong, X. (2014) · Prion · doi:10.4161/19336896.2014.967040 · Cited by 19

Novel N-terminal domain mutation in prion protein detected in 2 patients diagnosed with frontotemporal lobar degeneration syndrome

Bernardi, L., Cupidi, C., Frangipane, F., Anfossi, M., Gallo, M., Conidi, M. E., Vasso, F., Colao, R., Puccio, G., Curcio, S. A. M., et al. (2014) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2014.06.006 · Cited by 19

Novel PRNP mutation in a patient with a slow progressive dementia syndrome

Heinemann, U., Krasnianski, A., Meißner, B., Grasbon-Frodl, E. M., Kretzschmar, H. A., & Zerr, I. (2008) · PubMed · doi:10.5167/uzh-18180 · Cited by 18

Creutzfeldt-Jakob disease associated with an R148H mutation of the prion protein gene

Krebs, B., Lederer, R. M., Windl, O., Grasbon‐Frodl, E., Zerr, I., & Kretzschmar, H. A. (2005) · Neurogenetics · doi:10.1007/s10048-004-0208-x · Cited by 17

Novel prion protein gene mutation at codon 196 (E196A) in a septuagenarian with Creutzfeldt–Jakob disease

Zhang, H., Wang, M., Wu, L., Zhang, H., Jin, T., Wu, J., & Sun, L. J. (2013) · Journal of Clinical Neuroscience · doi:10.1016/j.jocn.2013.03.016 · Cited by 17

Can 23andMe have it all?

Servick, K. (2015) · Science · doi:10.1126/science.349.6255.1472 · Cited by 17

Familial prion disease with a novel serine to isoleucine mutation at codon 132 of prion protein gene (PRNP)

Hilton, D. A., Head, M. W., Singh, V. K., Bishop, M. D., & Ironside, J. W. (2008) · Neuropathology and Applied Neurobiology · doi:10.1111/j.1365-2990.2008.00964.x · Cited by 16

Pathologic Evidence That the T188R Mutation inPRNPIs Associated With Prion Disease

Tartaglia, M. C., Thai, J. N., See, T. M., Kuo, A. L., Harbaugh, R. E., Raudabaugh, B., Calì, I., Sattavat, M., Sanchez, H. C., DeArmond, S. J., et al. (2010) · Journal of Neuropathology & Experimental Neurology · doi:10.1097/nen.0b013e3181ffc39c · Cited by 15

Convection-Enhanced Delivery of AAV2-PrPshRNA in Prion-Infected Mice

Ahn, M., Bajsarowicz, K., Oehler, A., Lemus, A., Bankiewicz, K. S., & DeArmond, S. J. (2014) · PLoS ONE · doi:10.1371/journal.pone.0098496 · Cited by 15

Rare V203I mutation in thePRNPgene of a Chinese patient with Creutzfeldt–Jakob disease

Shi, Q., Chen, C., Wang, X., Zhou, W., Wang, J., Zhang, B., Tian, C., Gao, C., Han, J., & Dong, X. (2013) · Prion · doi:10.4161/pri.24674 · Cited by 14

A new point mutation of the PRNP gene in Gerstmann-Sträussler-Scheinker case in Poland.

Bratosiewicz, J., Barcikowska, M., Červen̆áková, L., Brown, P., Gajdusek, D. C., & Liberski, P. P. (2000) · PubMed · Cited by 13

The first Chinese case of Creutzfeldt-Jakob disease patient with R208H mutation inPRNP

Chen, C., Shi, Q. W., Tian, C., Li, Q., Zhou, W., Gao, C., Han, J., & Dong, X. (2011) · Prion · doi:10.4161/pri.5.3.16796 · Cited by 12

Creutzfeldt-Jakob disease associated with a V203I homozygous mutation in the prion protein gene

Komatsu, J., Sakai, K., Hamaguchi, T., Sugiyama, Y., Iwasa, K., & Yamada, M. (2014) · Prion · doi:10.4161/19336896.2014.971569 · Cited by 12

R208H-129VV haplotype in the prion protein gene: phenotype and neuroimaging of a patient with genetic Creutzfeldt-Jakob disease

Vita, M. G., Gaudino, S., Giuda, D. D., Sauchelli, D., Alboini, P. E., Gangemi, E., Bizzarro, A., Scaricamazza, E., Capellari, S., Parchi, P., et al. (2013) · Journal of Neurology · doi:10.1007/s00415-013-7078-9 · Cited by 9

Can Mortality Data Provide Reliable Indicators for Creutzfeldt-Jakob Disease Surveillance? A Study in France from 2000 to 2008

Brandel, J., Welaratne, A., Salomon, D., Capek, I., Vaillant, V., Aouaba, A., Haı̈k, S., & Alpérovitch, A. (2011) · Neuroepidemiology · doi:10.1159/000332764 · Cited by 9

Reply: Prion protein gene M232R variation is probably an uncommon polymorphism rather than a pathogenic mutation

Nozaki, I., Sakai, K., Kitamoto, T., & Yamada, M. (2011) · Brain · doi:10.1093/brain/awr295 · Cited by 4

Untitled work

Solano (2000) · doi:10.1002/1531-8249(200002)47:2 · Cited by 3

Classification of sporadic Creutzfeldt-Jakob disease based on molecular and phenotypic analysis of 300 subjects

Parchi, P., Giese, A., Capellari, S., Brown, P., Schulz-Schaeffer, W., Windl, O., Zerr, I., Budka, H., Kopp, N., Piccardo, P., et al. (1999) · Annals of Neurology · doi:10.1002/1531-8249(199908)46:2

Analysis of protein-coding genetic variation in 60,706 humans

Exome Aggregation Consortium, Lek, M., Karczewski, K. J., Minikel, E. V., Samocha, K. E., Banks, E., Fennell, T., O’Donnell-Luria, A. H., Ware, J. S., Hill, A. J., et al. (2016) · Nature · doi:10.1038/nature19057 · Cited by 9,587

Human Demographic History Impacts Genetic Risk Prediction across Diverse Populations

Martin, A. R., Gignoux, C. R., Walters, R. K., Wojcik, G. L., Neale, B. M., Gravel, S., Daly, M. J., Bustamante, C. D., & Kenny, E. E. (2017) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2017.03.004 · Cited by 1,391

The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease

Astle, W. J., Elding, H., Jiang, T., Allen, D., Ruklisa, D., Mann, A. L., Mead, D., Bouman, H., Riveros-Mckay, F., Kostadima, M. A., et al. (2016) · Cell · doi:10.1016/j.cell.2016.10.042 · Cited by 1,224

Integrative omics for health and disease

Karczewski, K. J., & Snyder, M. P. (2018) · Nature Reviews Genetics · doi:10.1038/nrg.2018.4 · Cited by 1,158

A brief history of human disease genetics

Claussnitzer, M., Cho, J. H., Collins, R., Cox, N. J., Dermitzakis, E. T., Hurles, M. E., Kathiresan, S., Kenny, E. E., Lindgren, C. M., MacArthur, D. G., et al. (2020) · Nature · doi:10.1038/s41586-019-1879-7 · Cited by 697

Prion variant pathogenicity through large-scale population sequencing

Burgess, D. J. (2016) · Nature Reviews Genetics · doi:10.1038/nrg.2016.9 · Cited by 2

Estimating the Penetrance of PRNP Mutations in Chinese Prion Disease Patients based on the Genome Databases

Ruhan, A., Jia, X.-X., Zhou, D.-H., Wu, Y.-Z., Wang, Y., Zhang, W. W., Xiao, K., Liang, D.-L., Gao, L., Zhou, W., et al. (2026) · Genomics Proteomics & Bioinformatics · doi:10.1093/gpbjnl/qzag054

Genetics of Prion Disease

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

Evaluating the causality of novel sequence variants in the prion protein gene by example

Mok, T. H., Koriath, C., Jaunmuktane, Z., Campbell, T., Joiner, S., Wadsworth, J. D. F., Hosszu, L. L. P., Brandner, S., Parvez, A., Truelsen, T. C., et al. (2018) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2018.05.011 · Cited by 12

Mortality of Individuals With PRNP Variants Associated With Prion Disease in the United States, 1998–2024

Lian, Y., Kotobelli, K., Glisic, K., Sprague, D. A., Vallabh, S. M., Appleby, B. S., & Minikel, E. V. (2026) · Neurology Genetics · doi:10.1212/nxg.0000000000200423 · Cited by 3