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Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature.
Abou Jamra R, Philippe O, Raas-Rothschild A, Eck SH, Graf E, Buchert R, Borck G, Ekici A, Brockschmidt FF, Nöthen MM, Munnich A, Strom TM, Reis A, Colleaux L. Abou Jamra R, et al. Among authors: eck sh. Am J Hum Genet. 2011 Jun 10;88(6):788-795. doi: 10.1016/j.ajhg.2011.04.019. Epub 2011 May 27. Am J Hum Genet. 2011. PMID: 21620353 Free PMC article.
A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease.
Zimprich A, Benet-Pagès A, Struhal W, Graf E, Eck SH, Offman MN, Haubenberger D, Spielberger S, Schulte EC, Lichtner P, Rossle SC, Klopp N, Wolf E, Seppi K, Pirker W, Presslauer S, Mollenhauer B, Katzenschlager R, Foki T, Hotzy C, Reinthaler E, Harutyunyan A, Kralovics R, Peters A, Zimprich F, Brücke T, Poewe W, Auff E, Trenkwalder C, Rost B, Ransmayr G, Winkelmann J, Meitinger T, Strom TM. Zimprich A, et al. Among authors: eck sh. Am J Hum Genet. 2011 Jul 15;89(1):168-75. doi: 10.1016/j.ajhg.2011.06.008. Am J Hum Genet. 2011. PMID: 21763483 Free PMC article.
Dysfunctional nitric oxide signalling increases risk of myocardial infarction.
Erdmann J, Stark K, Esslinger UB, Rumpf PM, Koesling D, de Wit C, Kaiser FJ, Braunholz D, Medack A, Fischer M, Zimmermann ME, Tennstedt S, Graf E, Eck S, Aherrahrou Z, Nahrstaedt J, Willenborg C, Bruse P, Brænne I, Nöthen MM, Hofmann P, Braund PS, Mergia E, Reinhard W, Burgdorf C, Schreiber S, Balmforth AJ, Hall AS, Bertram L, Steinhagen-Thiessen E, Li SC, März W, Reilly M, Kathiresan S, McPherson R, Walter U; CARDIoGRAM; Ott J, Samani NJ, Strom TM, Meitinger T, Hengstenberg C, Schunkert H. Erdmann J, et al. Nature. 2013 Dec 19;504(7480):432-6. doi: 10.1038/nature12722. Epub 2013 Nov 10. Nature. 2013. PMID: 24213632
Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits.
Horn D, Kapeller J, Rivera-Brugués N, Moog U, Lorenz-Depiereux B, Eck S, Hempel M, Wagenstaller J, Gawthrope A, Monaco AP, Bonin M, Riess O, Wohlleber E, Illig T, Bezzina CR, Franke A, Spranger S, Villavicencio-Lorini P, Seifert W, Rosenfeld J, Klopocki E, Rappold GA, Strom TM. Horn D, et al. Hum Mutat. 2010 Nov;31(11):E1851-60. doi: 10.1002/humu.21362. Hum Mutat. 2010. PMID: 20848658 Free PMC article.
Rare variants in PLXNA4 and Parkinson's disease.
Schulte EC, Stahl I, Czamara D, Ellwanger DC, Eck S, Graf E, Mollenhauer B, Zimprich A, Lichtner P, Haubenberger D, Pirker W, Brücke T, Bereznai B, Molnar MJ, Peters A, Gieger C, Müller-Myhsok B, Trenkwalder C, Winkelmann J. Schulte EC, et al. PLoS One. 2013 Nov 11;8(11):e79145. doi: 10.1371/journal.pone.0079145. eCollection 2013. PLoS One. 2013. PMID: 24244438 Free PMC article. Clinical Trial.
CpG-methylation regulates a class of Epstein-Barr virus promoters.
Bergbauer M, Kalla M, Schmeinck A, Göbel C, Rothbauer U, Eck S, Benet-Pagès A, Strom TM, Hammerschmidt W. Bergbauer M, et al. PLoS Pathog. 2010 Sep 23;6(9):e1001114. doi: 10.1371/journal.ppat.1001114. PLoS Pathog. 2010. PMID: 20886097 Free PMC article.
Rare variants in LRRK1 and Parkinson's disease.
Schulte EC, Ellwanger DC, Dihanich S, Manzoni C, Stangl K, Schormair B, Graf E, Eck S, Mollenhauer B, Haubenberger D, Pirker W, Zimprich A, Brücke T, Lichtner P, Peters A, Gieger C, Trenkwalder C, Mewes HW, Meitinger T, Lewis PA, Klünemann HH, Winkelmann J. Schulte EC, et al. Neurogenetics. 2014 Mar;15(1):49-57. doi: 10.1007/s10048-013-0383-8. Epub 2013 Nov 16. Neurogenetics. 2014. PMID: 24241507 Free PMC article.
19 results