Winter P - Search Results

1

Three novel presenilin 1 mutations marking the wide spectrum of age at onset and clinical patterns in familial Alzheimer's disease.

Roeber S, Müller-Sarnowski F, Kress J, Edbauer D, Kuhlmann T, Tüttelmann F, Schindler C, Winter P, Arzberger T, Müller U, Danek A, Kretzschmar HA. Roeber S, et al. Among authors: winter p. J Neural Transm (Vienna). 2015 Dec;122(12):1715-9. doi: 10.1007/s00702-015-1450-0. Epub 2015 Sep 8. J Neural Transm (Vienna). 2015. PMID: 26350633

2

Previously unrecognized missense mutation E126K of PSEN2 segregates with early onset Alzheimer's disease in a family.

Müller U, Winter P, Bolender C, Nolte D. Müller U, et al. Among authors: winter p. J Alzheimers Dis. 2014;42(1):109-13. doi: 10.3233/JAD-140399. J Alzheimers Dis. 2014. PMID: 24844686

3

Previously not recognized deletion in presenilin-1 (p.Leu174del.) in a patient with early-onset familial Alzheimer's disease.

Tiedt HO, Lueschow A, Winter P, Müller U. Tiedt HO, et al. Among authors: winter p. Neurosci Lett. 2013 Jun 7;544:115-8. doi: 10.1016/j.neulet.2013.03.056. Epub 2013 Apr 10. Neurosci Lett. 2013. PMID: 23583593

4

A presenilin 1 mutation in the first case of Alzheimer's disease.

Müller U, Winter P, Graeber MB. Müller U, et al. Among authors: winter p. Lancet Neurol. 2013 Feb;12(2):129-30. doi: 10.1016/S1474-4422(12)70307-1. Epub 2012 Dec 14. Lancet Neurol. 2013. PMID: 23246540 No abstract available.

5

Novel mutation in the ALS2 gene in juvenile amyotrophic lateral sclerosis.

Kress JA, Kühnlein P, Winter P, Ludolph AC, Kassubek J, Müller U, Sperfeld AD. Kress JA, et al. Among authors: winter p. Ann Neurol. 2005 Nov;58(5):800-3. doi: 10.1002/ana.20665. Ann Neurol. 2005. PMID: 16240357

6

Alois Alzheimer's case, Auguste D., did not carry the N141I mutation in PSEN2 characteristic of Alzheimer disease in Volga Germans.

Müller U, Winter P, Graeber MB. Müller U, et al. Among authors: winter p. Arch Neurol. 2011 Sep;68(9):1210-1, author reply 1211. doi: 10.1001/archneurol.2011.218. Arch Neurol. 2011. PMID: 21911706 No abstract available.

7

DYT7 gene locus for cervical dystonia on chromosome 18p is questionable.

Winter P, Kamm C, Biskup S, Köhler A, Leube B, Auburger G, Gasser T, Benecke R, Müller U. Winter P, et al. Mov Disord. 2012 Dec;27(14):1819-21. doi: 10.1002/mds.25219. Epub 2012 Oct 31. Mov Disord. 2012. PMID: 23115116

8

Maternal uniparental heterodisomy with partial isodisomy of a chromosome 2 carrying a splice acceptor site mutation (IVS9-2A>T) in ALS2 causes infantile-onset ascending spastic paralysis (IAHSP).

Herzfeld T, Wolf N, Winter P, Hackstein H, Vater D, Müller U. Herzfeld T, et al. Among authors: winter p. Neurogenetics. 2009 Feb;10(1):59-64. doi: 10.1007/s10048-008-0148-y. Epub 2008 Sep 23. Neurogenetics. 2009. PMID: 18810511

9

Epigenome-wide DNA methylation profiling in Progressive Supranuclear Palsy reveals major changes at DLX1.

Weber A, Schwarz SC, Tost J, Trümbach D, Winter P, Busato F, Tacik P, Windhorst AC, Fagny M, Arzberger T, McLean C, van Swieten JC, Schwarz J, Vogt Weisenhorn D, Wurst W, Adhikary T, Dickson DW, Höglinger GU, Müller U. Weber A, et al. Among authors: winter p. Nat Commun. 2018 Jul 26;9(1):2929. doi: 10.1038/s41467-018-05325-y. Nat Commun. 2018. PMID: 30050033 Free PMC article.

10

A Severe Dementia Syndrome Caused by Intron Retention and Cryptic Splice Site Activation in STUB1 and Exacerbated by TBP Repeat Expansions.

Reis MC, Patrun J, Ackl N, Winter P, Scheifele M, Danek A, Nolte D. Reis MC, et al. Among authors: winter p. Front Mol Neurosci. 2022 Apr 14;15:878236. doi: 10.3389/fnmol.2022.878236. eCollection 2022. Front Mol Neurosci. 2022. PMID: 35493319 Free PMC article.

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