Appenzeller S - Search Results

1

Pontine autosomal dominant microangiopathy with leukoencephalopathy: Col4A1 gene variants in the original family and sporadic stroke.

Roos J, Müller S, Giese A, Appenzeller S, Ringelstein EB, Fiehler J, Berger K, Rolfs A, Hagel C, Kuhlenbäumer G. Roos J, et al. Among authors: appenzeller s. J Neurol. 2023 May;270(5):2631-2639. doi: 10.1007/s00415-023-11590-9. Epub 2023 Feb 14. J Neurol. 2023. PMID: 36786861 Free PMC article.

2

Genotype-phenotype analysis in patients with giant axonal neuropathy (GAN).

Koop O, Schirmacher A, Nelis E, Timmerman V, De Jonghe P, Ringelstein B, Rasic VM, Evrard P, Gärtner J, Claeys KG, Appenzeller S, Rautenstrauss B, Hühne K, Ramos-Arroyo MA, Wörle H, Moilanen JS, Hammans S, Kuhlenbäumer G. Koop O, et al. Among authors: appenzeller s. Neuromuscul Disord. 2007 Aug;17(8):624-30. doi: 10.1016/j.nmd.2007.03.012. Epub 2007 Jun 22. Neuromuscul Disord. 2007. PMID: 17587580

3

Two sets of identical twins with cervical artery dissection concordant for temporal artery pathology.

Völker W, Kuhlenbäumer G, Dittrich R, Appenzeller S, Grewe S, Maintz D, Heindel W, Grotemeyer KH, Ringelstein EB. Völker W, et al. Among authors: appenzeller s. Neurology. 2008 Sep 23;71(13):1035-7. doi: 10.1212/01.wnl.0000326577.25503.f0. Neurology. 2008. PMID: 18809841 No abstract available.

4

MRI features of pontine autosomal dominant microangiopathy and leukoencephalopathy (PADMAL).

Ding XQ, Hagel C, Ringelstein EB, Buchheit S, Zeumer H, Kuhlenbäumer G, Appenzeller S, Fiehler J. Ding XQ, et al. Among authors: appenzeller s. J Neuroimaging. 2010 Apr;20(2):134-40. doi: 10.1111/j.1552-6569.2008.00336.x. Epub 2009 Jan 29. J Neuroimaging. 2010. PMID: 19187480

5

Autosomal-dominant striatal degeneration is caused by a mutation in the phosphodiesterase 8B gene.

Appenzeller S, Schirmacher A, Halfter H, Bäumer S, Pendziwiat M, Timmerman V, De Jonghe P, Fekete K, Stögbauer F, Lüdemann P, Hund M, Quabius ES, Ringelstein EB, Kuhlenbäumer G. Appenzeller S, et al. Am J Hum Genet. 2010 Jan;86(1):83-7. doi: 10.1016/j.ajhg.2009.12.003. Am J Hum Genet. 2010. PMID: 20085714 Free PMC article.

6

Novel genomic techniques open new avenues in the analysis of monogenic disorders.

Kuhlenbäumer G, Hullmann J, Appenzeller S. Kuhlenbäumer G, et al. Among authors: appenzeller s. Hum Mutat. 2011 Feb;32(2):144-51. doi: 10.1002/humu.21400. Hum Mutat. 2011. PMID: 21280146 Review.

7

Polymorphisms in the glial glutamate transporter SLC1A2 are associated with essential tremor.

Thier S, Lorenz D, Nothnagel M, Poremba C, Papengut F, Appenzeller S, Paschen S, Hofschulte F, Hussl AC, Hering S, Poewe W, Asmus F, Gasser T, Schöls L, Christensen K, Nebel A, Schreiber S, Klebe S, Deuschl G, Kuhlenbäumer G. Thier S, et al. Among authors: appenzeller s. Neurology. 2012 Jul 17;79(3):243-8. doi: 10.1212/WNL.0b013e31825fdeed. Epub 2012 Jul 3. Neurology. 2012. PMID: 22764253 Free PMC article.

8

No association between NOD2 variants and Parkinson's disease.

Appenzeller S, Thier S, Papengut F, Klein C, Hagenah J, Kasten M, Berg D, Srulijes K, Gasser T, Schreiber S, Deuschl G, Kuhlenbäumer G. Appenzeller S, et al. Mov Disord. 2012 Aug;27(9):1191-2. doi: 10.1002/mds.25059. Epub 2012 Jul 13. Mov Disord. 2012. PMID: 22807259 No abstract available.

9

Febrile infection-related epilepsy syndrome (FIRES) is not caused by SCN1A, POLG, PCDH19 mutations or rare copy number variations.

Appenzeller S, Helbig I, Stephani U, Häusler M, Kluger G, Bungeroth M, Müller S, Kuhlenbäumer G, van Baalen A. Appenzeller S, et al. Dev Med Child Neurol. 2012 Dec;54(12):1144-8. doi: 10.1111/j.1469-8749.2012.04435.x. Epub 2012 Oct 15. Dev Med Child Neurol. 2012. PMID: 23066759 Free article.

10

Broad phenotypic heterogeneity due to a novel SCN1A mutation in a family with genetic epilepsy with febrile seizures plus.

Goldberg-Stern H, Aharoni S, Afawi Z, Bennett O, Appenzeller S, Pendziwiat M, Kuhlenbäumer G, Basel-Vanagaite L, Shuper A, Korczyn AD, Helbig I. Goldberg-Stern H, et al. Among authors: appenzeller s. J Child Neurol. 2014 Feb;29(2):221-6. doi: 10.1177/0883073813509016. Epub 2013 Nov 20. J Child Neurol. 2014. PMID: 24257433

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