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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.
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.
Report about four novel mutations in the prion protein gene.
Schelzke G, Stoeck K, Eigenbrod S, Grasbon-Frodl E, Raddatz LM, Ponto C, Kretzschmar HA, Zerr I. Schelzke G, et al. Among authors: ponto c. Dement Geriatr Cogn Disord. 2013;35(3-4):229-37. doi: 10.1159/000345991. Epub 2013 Mar 5. Dement Geriatr Cogn Disord. 2013. PMID: 23467330 Free article.
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.
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
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
R47H TREM2 variant increases risk of typical early-onset Alzheimer's disease but not of prion or frontotemporal dementia.
Slattery CF, Beck JA, Harper L, Adamson G, Abdi Z, Uphill J, Campbell T, Druyeh R, Mahoney CJ, Rohrer JD, Kenny J, Lowe J, Leung KK, Barnes J, Clegg SL, Blair M, Nicholas JM, Guerreiro RJ, Rowe JB, Ponto C, Zerr I, Kretzschmar H, Gambetti P, Crutch SJ, Warren JD, Rossor MN, Fox NC, Collinge J, Schott JM, Mead S. Slattery CF, et al. Among authors: ponto c. Alzheimers Dement. 2014 Nov;10(6):602-608.e4. doi: 10.1016/j.jalz.2014.05.1751. Epub 2014 Aug 23. Alzheimers Dement. 2014. PMID: 25160042 Free PMC article.
Investigating the association of ApoE genotypes with blood-brain barrier dysfunction measured by cerebrospinal fluid-serum albumin ratio in a cohort of patients with different types of dementia.
Karch A, Manthey H, Ponto C, Hermann P, Heinemann U, Schmidt C, Zerr I. Karch A, et al. Among authors: ponto c. PLoS One. 2013 Dec 27;8(12):e84405. doi: 10.1371/journal.pone.0084405. eCollection 2013. PLoS One. 2013. PMID: 24386372 Free PMC article. Clinical Trial.
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.
15 results