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Items: 14

1.

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.

J Neurol Neurosurg Psychiatry. 2017 Feb;88(2):119-125. doi: 10.1136/jnnp-2016-313541. Epub 2016 Nov 2.

2.

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.

Sci Transl Med. 2016 Jan 20;8(322):322ra9. doi: 10.1126/scitranslmed.aad5169.

3.

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.

Eur J Epidemiol. 2016 Feb;31(2):187-96. doi: 10.1007/s10654-015-0049-y. Epub 2015 Jun 16.

PMID:
26076917
4.

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.

PLoS One. 2015 Apr 28;10(4):e0123654. doi: 10.1371/journal.pone.0123654. eCollection 2014.

5.

Cerebrospinal fluid tau levels are a marker for molecular subtype in sporadic Creutzfeldt-Jakob disease.

Karch A, Hermann P, Ponto C, Schmitz M, Arora A, Zafar S, Llorens F, Müller-Heine A, Zerr I.

Neurobiol Aging. 2015 May;36(5):1964-8. doi: 10.1016/j.neurobiolaging.2015.01.021. Epub 2015 Feb 7.

PMID:
25749129
6.

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.

Neurobiol Aging. 2015 May;36(5):2004.e1-8. doi: 10.1016/j.neurobiolaging.2015.01.011. Epub 2015 Jan 22.

PMID:
25726360
7.

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.

Am J Hum Genet. 2014 Oct 2;95(4):371-82. doi: 10.1016/j.ajhg.2014.09.003.

8.

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.

Alzheimers Dement. 2014 Nov;10(6):602-608.e4. doi: 10.1016/j.jalz.2014.05.1751. Epub 2014 Aug 23.

9.

Diagnostic profiles of patients with late-onset Creutzfeldt-Jakob disease differ from those of younger Creutzfeldt-Jakob patients: a historical cohort study using data from the German National Reference Center.

Karch A, Raddatz LM, Ponto C, Hermann P, Summers D, Zerr I.

J Neurol. 2014 May;261(5):877-83. doi: 10.1007/s00415-014-7283-1. Epub 2014 Feb 26.

PMID:
24570280
10.

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.

PLoS One. 2013 Dec 27;8(12):e84405. doi: 10.1371/journal.pone.0084405. eCollection 2013.

11.

Detection of infectivity in blood of persons with variant and sporadic Creutzfeldt-Jakob disease.

Douet JY, Zafar S, Perret-Liaudet A, Lacroux C, Lugan S, Aron N, Cassard H, Ponto C, Corbière F, Torres JM, Zerr I, Andreoletti O.

Emerg Infect Dis. 2014 Jan;20(1):114-7. doi: 10.3201/eid2001.130353.

12.

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.

J Neurol Neurosurg Psychiatry. 2014 Jun;85(6):654-9. doi: 10.1136/jnnp-2013-305978. Epub 2013 Nov 18.

13.

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.

Dement Geriatr Cogn Disord. 2013;35(3-4):229-37. doi: 10.1159/000345991. Epub 2013 Mar 5.

PMID:
23467330
14.

[Multiple Intraluminal Impedance measurement in the esophagus. Experience with the first 100 Danish patients].

Dalby K, Markøw S, Pontø CH, Kruse-Andersen S.

Ugeskr Laeger. 2007 Oct 15;169(42):3579-83. Danish.

PMID:
18031670

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