Winter P - Search Results

1

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

2

The epidemiology of CuZn-SOD mutations in Germany: a study of 217 families.

Rabe M, Felbecker A, Waibel S, Steinbach P, Winter P, Müller U, Ludolph AC. Rabe M, et al. Among authors: winter p. J Neurol. 2010 Aug;257(8):1298-302. doi: 10.1007/s00415-010-5512-9. Epub 2010 Mar 23. J Neurol. 2010. PMID: 20309572

3

Novel homozygous ALS2 nonsense mutation (p.Gln715X) in sibs with infantile-onset ascending spastic paralysis: the first cases from northwestern Europe.

Verschuuren-Bemelmans CC, Winter P, Sival DA, Elting JW, Brouwer OF, Müller U. Verschuuren-Bemelmans CC, et al. Among authors: winter p. Eur J Hum Genet. 2008 Nov;16(11):1407-11. doi: 10.1038/ejhg.2008.108. Epub 2008 Jun 4. Eur J Hum Genet. 2008. PMID: 18523452

4

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

5

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

6

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.

7

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

8

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.

9

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

10

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

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