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Year Number of Results
2007 1
2013 3
2014 6
2015 4
2016 3
2017 1
2019 1
2024 0

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15 results

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Page 1
Quantifying prion disease penetrance using large population control cohorts.
Minikel EV, Vallabh SM, Lek M, Estrada K, Samocha KE, Sathirapongsasuti JF, McLean CY, Tung JY, Yu LP, Gambetti P, Blevins J, Zhang S, Cohen Y, Chen W, Yamada M, Hamaguchi T, Sanjo N, Mizusawa H, Nakamura Y, Kitamoto T, Collins SJ, Boyd A, Will RG, Knight R, Ponto C, Zerr I, Kraus TF, Eigenbrod S, Giese A, Calero M, de Pedro-Cuesta J, Haïk S, Laplanche JL, Bouaziz-Amar E, Brandel JP, Capellari S, Parchi P, Poleggi A, Ladogana A, O'Donnell-Luria AH, Karczewski KJ, Marshall JL, Boehnke M, Laakso M, Mohlke KL, Kähler A, Chambert K, McCarroll S, Sullivan PF, Hultman CM, Purcell SM, Sklar P, van der Lee SJ, Rozemuller A, Jansen C, Hofman A, Kraaij R, van Rooij JG, Ikram MA, Uitterlinden AG, van Duijn CM; Exome Aggregation Consortium (ExAC); Daly MJ, MacArthur DG. Minikel EV, et al. Among authors: ponto c. Sci Transl Med. 2016 Jan 20;8(322):322ra9. doi: 10.1126/scitranslmed.aad5169. Sci Transl Med. 2016. PMID: 26791950 Free PMC article.
Rare structural genetic variation in human prion diseases.
Lukic A, Uphill J, Brown CA, Beck J, Poulter M, Campbell T, Adamson G, Hummerich H, Whitfield J, Ponto C, Zerr I, Lloyd SE, Collinge J, Mead S. Lukic A, et al. Among authors: ponto c. Neurobiol Aging. 2015 May;36(5):2004.e1-8. doi: 10.1016/j.neurobiolaging.2015.01.011. Epub 2015 Jan 22. Neurobiol Aging. 2015. PMID: 25726360
Age at onset in genetic prion disease and the design of preventive clinical trials.
Minikel EV, Vallabh SM, Orseth MC, Brandel JP, Haïk S, Laplanche JL, Zerr I, Parchi P, Capellari S, Safar J, Kenny J, Fong JC, Takada LT, Ponto C, Hermann P, Knipper T, Stehmann C, Kitamoto T, Ae R, Hamaguchi T, Sanjo N, Tsukamoto T, Mizusawa H, Collins SJ, Chiesa R, Roiter I, de Pedro-Cuesta J, Calero M, Geschwind MD, Yamada M, Nakamura Y, Mead S. Minikel EV, et al. Among authors: ponto c. Neurology. 2019 Jul 9;93(2):e125-e134. doi: 10.1212/WNL.0000000000007745. Epub 2019 Jun 6. Neurology. 2019. PMID: 31171647 Free PMC article.
Clinical findings and diagnosis in genetic prion diseases in Germany.
Krasnianski A, Heinemann U, Ponto C, Kortt J, Kallenberg K, Varges D, Schulz-Schaeffer WJ, Kretzschmar HA, Zerr I. Krasnianski A, et al. Among authors: ponto c. Eur J Epidemiol. 2016 Feb;31(2):187-96. doi: 10.1007/s10654-015-0049-y. Epub 2015 Jun 16. Eur J Epidemiol. 2016. PMID: 26076917
A proposal of new diagnostic pathway for fatal familial insomnia.
Krasnianski A, Sanchez Juan P, Ponto C, Bartl M, Heinemann U, Varges D, Schulz-Schaeffer WJ, Kretzschmar HA, Zerr I. Krasnianski A, et al. Among authors: ponto c. J Neurol Neurosurg Psychiatry. 2014 Jun;85(6):654-9. doi: 10.1136/jnnp-2013-305978. Epub 2013 Nov 18. J Neurol Neurosurg Psychiatry. 2014. PMID: 24249784 Free PMC article.
Doxycycline in early CJD: a double-blinded randomised phase II and observational study.
Varges D, Manthey H, Heinemann U, Ponto C, Schmitz M, Schulz-Schaeffer WJ, Krasnianski A, Breithaupt M, Fincke F, Kramer K, Friede T, Zerr I. Varges D, et al. Among authors: ponto c. J Neurol Neurosurg Psychiatry. 2017 Feb;88(2):119-125. doi: 10.1136/jnnp-2016-313541. Epub 2016 Nov 2. J Neurol Neurosurg Psychiatry. 2017. PMID: 27807198 Free PMC article. Clinical Trial.
Ascertainment bias causes false signal of anticipation in genetic prion disease.
Minikel EV, Zerr I, Collins SJ, Ponto C, Boyd A, Klug G, Karch A, Kenny J, Collinge J, Takada LT, Forner S, Fong JC, Mead S, Geschwind MD. Minikel EV, et al. Among authors: ponto c. Am J Hum Genet. 2014 Oct 2;95(4):371-82. doi: 10.1016/j.ajhg.2014.09.003. Am J Hum Genet. 2014. PMID: 25279981 Free PMC article.
A genome wide association study links glutamate receptor pathway to sporadic Creutzfeldt-Jakob disease risk.
Sanchez-Juan P, Bishop MT, Kovacs GG, Calero M, Aulchenko YS, Ladogana A, Boyd A, Lewis V, Ponto C, Calero O, Poleggi A, Carracedo Á, van der Lee SJ, Ströbel T, Rivadeneira F, Hofman A, Haïk S, Combarros O, Berciano J, Uitterlinden AG, Collins SJ, Budka H, Brandel JP, Laplanche JL, Pocchiari M, Zerr I, Knight RS, Will RG, van Duijn CM. Sanchez-Juan P, et al. Among authors: ponto c. PLoS One. 2015 Apr 28;10(4):e0123654. doi: 10.1371/journal.pone.0123654. eCollection 2014. PLoS One. 2015. PMID: 25918841 Free PMC article.
15 results