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Page 1
Recessive dystonia-ataxia syndrome in a Turkish family caused by a COX20 (FAM36A) mutation.
Doss S, Lohmann K, Seibler P, Arns B, Klopstock T, Zühlke C, Freimann K, Winkler S, Lohnau T, Drungowski M, Nürnberg P, Wiegers K, Lohmann E, Naz S, Kasten M, Bohner G, Ramirez A, Endres M, Klein C. Doss S, et al. Among authors: nurnberg p. J Neurol. 2014 Jan;261(1):207-12. doi: 10.1007/s00415-013-7177-7. Epub 2013 Nov 8. J Neurol. 2014. PMID: 24202787
Genetic association study of the P-type ATPase ATP13A2 in late-onset Parkinson's disease.
Rakovic A, Stiller B, Djarmati A, Flaquer A, Freudenberg J, Toliat MR, Linnebank M, Kostic V, Lohmann K, Paus S, Nürnberg P, Kubisch C, Klein C, Wüllner U, Ramirez A. Rakovic A, et al. Among authors: nurnberg p. Mov Disord. 2009 Feb 15;24(3):429-33. doi: 10.1002/mds.22399. Mov Disord. 2009. PMID: 19097176 Free article.
A mutation in the signal sequence of LRP5 in a family with an osteoporosis-pseudoglioma syndrome (OPPG)-like phenotype indicates a novel disease mechanism for trinucleotide repeats.
Chung BD, Kayserili H, Ai M, Freudenberg J, Uzümcü A, Uyguner O, Bartels CF, Höning S, Ramirez A, Hanisch FG, Nürnberg G, Nürnberg P, Warman ML, Wollnik B, Kubisch C, Netzer C. Chung BD, et al. Among authors: nurnberg p, nurnberg g. Hum Mutat. 2009 Apr;30(4):641-8. doi: 10.1002/humu.20916. Hum Mutat. 2009. PMID: 19177549
Contractures and hypertrophic cardiomyopathy in a novel FHL1 mutation.
Knoblauch H, Geier C, Adams S, Budde B, Rudolph A, Zacharias U, Schulz-Menger J, Spuler A, Yaou RB, Nürnberg P, Voit T, Bonne G, Spuler S. Knoblauch H, et al. Among authors: nurnberg p. Ann Neurol. 2010 Jan;67(1):136-40. doi: 10.1002/ana.21839. Ann Neurol. 2010. PMID: 20186852
Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study.
Rosewich H, Thiele H, Ohlenbusch A, Maschke U, Altmüller J, Frommolt P, Zirn B, Ebinger F, Siemes H, Nürnberg P, Brockmann K, Gärtner J. Rosewich H, et al. Among authors: nurnberg p. Lancet Neurol. 2012 Sep;11(9):764-73. doi: 10.1016/S1474-4422(12)70182-5. Epub 2012 Jul 30. Lancet Neurol. 2012. PMID: 22850527
A novel OPA3 mutation revealed by exome sequencing: an example of reverse phenotyping.
Arif B, Kumar KR, Seibler P, Vulinovic F, Fatima A, Winkler S, Nürnberg G, Thiele H, Nürnberg P, Jamil AZ, Brüggemann A, Abbas G, Klein C, Naz S, Lohmann K. Arif B, et al. Among authors: nurnberg p, nurnberg g. JAMA Neurol. 2013 Jun;70(6):783-7. doi: 10.1001/jamaneurol.2013.1174. JAMA Neurol. 2013. PMID: 23700088
A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy.
Hallmann K, Zsurka G, Moskau-Hartmann S, Kirschner J, Korinthenberg R, Ruppert AK, Ozdemir O, Weber Y, Becker F, Lerche H, Elger CE, Thiele H, Nürnberg P, Sander T, Kunz WS. Hallmann K, et al. Among authors: nurnberg p. Neurology. 2014 Dec 2;83(23):2183-7. doi: 10.1212/WNL.0000000000001055. Epub 2014 Oct 31. Neurology. 2014. PMID: 25361775
Rare variants in γ-aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes.
Reinthaler EM, Dejanovic B, Lal D, Semtner M, Merkler Y, Reinhold A, Pittrich DA, Hotzy C, Feucht M, Steinböck H, Gruber-Sedlmayr U, Ronen GM, Neophytou B, Geldner J, Haberlandt E, Muhle H, Ikram MA, van Duijn CM, Uitterlinden AG, Hofman A, Altmüller J, Kawalia A, Toliat MR; EuroEPINOMICS Consortium; Nürnberg P, Lerche H, Nothnagel M, Thiele H, Sander T, Meier JC, Schwarz G, Neubauer BA, Zimprich F. Reinthaler EM, et al. Among authors: nurnberg p. Ann Neurol. 2015 Jun;77(6):972-86. doi: 10.1002/ana.24395. Epub 2015 Mar 28. Ann Neurol. 2015. PMID: 25726841
Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia.
Hardies K, de Kovel CG, Weckhuysen S, Asselbergh B, Geuens T, Deconinck T, Azmi A, May P, Brilstra E, Becker F, Barisic N, Craiu D, Braun KP, Lal D, Thiele H, Schubert J, Weber Y, van 't Slot R, Nürnberg P, Balling R, Timmerman V, Lerche H, Maudsley S, Helbig I, Suls A, Koeleman BP, De Jonghe P; autosomal recessive working group of the EuroEPINOMICS RES Consortium. Hardies K, et al. Among authors: nurnberg p. Brain. 2015 Nov;138(Pt 11):3238-50. doi: 10.1093/brain/awv263. Epub 2015 Sep 17. Brain. 2015. PMID: 26384929
696 results