Deufel T - Search Results

1

Isoform-specific increase of spastin stability by N-terminal missense variants including intragenic modifiers of SPG4 hereditary spastic paraplegia.

Schickel J, Pamminger T, Ehrsam A, Münch S, Huang X, Klopstock T, Kurlemann G, Hemmerich P, Dubiel W, Deufel T, Beetz C. Schickel J, et al. Among authors: deufel t. Eur J Neurol. 2007 Dec;14(12):1322-8. doi: 10.1111/j.1468-1331.2007.01971.x. Epub 2007 Oct 3. Eur J Neurol. 2007. PMID: 17916079

2

Motor system abnormalities in hereditary spastic paraparesis type 4 (SPG4) depend on the type of mutation in the spastin gene.

Bönsch D, Schwindt A, Navratil P, Palm D, Neumann C, Klimpe S, Schickel J, Hazan J, Weiller C, Deufel T, Liepert J. Bönsch D, et al. Among authors: deufel t. J Neurol Neurosurg Psychiatry. 2003 Aug;74(8):1109-12. doi: 10.1136/jnnp.74.8.1109. J Neurol Neurosurg Psychiatry. 2003. PMID: 12876245 Free PMC article.

3

Unexpected pathogenic mechanism of a novel mutation in the coding sequence of SPG4 (spastin).

Schickel J, Beetz C, Frömmel C, Heide G, Sasse A, Hemmerich P, Deufel T. Schickel J, et al. Among authors: deufel t. Neurology. 2006 Feb 14;66(3):421-3. doi: 10.1212/01.wnl.0000196468.01815.55. Neurology. 2006. PMID: 16476945

4

High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia.

Beetz C, Nygren AO, Schickel J, Auer-Grumbach M, Bürk K, Heide G, Kassubek J, Klimpe S, Klopstock T, Kreuz F, Otto S, Schüle R, Schöls L, Sperfeld AD, Witte OW, Deufel T. Beetz C, et al. Among authors: deufel t. Neurology. 2006 Dec 12;67(11):1926-30. doi: 10.1212/01.wnl.0000244413.49258.f5. Epub 2006 Oct 11. Neurology. 2006. PMID: 17035675

5

Identification of nuclear localisation sequences in spastin (SPG4) using a novel Tetra-GFP reporter system.

Beetz C, Brodhun M, Moutzouris K, Kiehntopf M, Berndt A, Lehnert D, Deufel T, Bastmeyer M, Schickel J. Beetz C, et al. Among authors: deufel t. Biochem Biophys Res Commun. 2004 Jun 11;318(4):1079-84. doi: 10.1016/j.bbrc.2004.03.195. Biochem Biophys Res Commun. 2004. PMID: 15147984

6

Screening of hereditary spastic paraplegia patients for alterations at NIPA1 mutational hotspots.

Beetz C, Schüle R, Klebe S, Klimpe S, Klopstock T, Lacour A, Otto S, Sperfeld AD, van de Warrenburg B, Schöls L, Deufel T. Beetz C, et al. Among authors: deufel t. J Neurol Sci. 2008 May 15;268(1-2):131-5. doi: 10.1016/j.jns.2007.11.015. Epub 2008 Jan 14. J Neurol Sci. 2008. PMID: 18191948

7

REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.

Beetz C, Schüle R, Deconinck T, Tran-Viet KN, Zhu H, Kremer BP, Frints SG, van Zelst-Stams WA, Byrne P, Otto S, Nygren AO, Baets J, Smets K, Ceulemans B, Dan B, Nagan N, Kassubek J, Klimpe S, Klopstock T, Stolze H, Smeets HJ, Schrander-Stumpel CT, Hutchinson M, van de Warrenburg BP, Braastad C, Deufel T, Pericak-Vance M, Schöls L, de Jonghe P, Züchner S. Beetz C, et al. Among authors: deufel t. Brain. 2008 Apr;131(Pt 4):1078-86. doi: 10.1093/brain/awn026. Epub 2008 Mar 5. Brain. 2008. PMID: 18321925 Free PMC article.

8

Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia.

Schüle R, Brandt E, Karle KN, Tsaousidou M, Klebe S, Klimpe S, Auer-Grumbach M, Crosby AH, Hübner CA, Schöls L, Deufel T, Beetz C. Schüle R, et al. Among authors: deufel t. Neurogenetics. 2009 Apr;10(2):97-104. doi: 10.1007/s10048-008-0158-9. Epub 2008 Oct 15. Neurogenetics. 2009. PMID: 18855023

9

Functional mutation analysis provides evidence for a role of REEP1 in lipid droplet biology.

Falk J, Rohde M, Bekhite MM, Neugebauer S, Hemmerich P, Kiehntopf M, Deufel T, Hübner CA, Beetz C. Falk J, et al. Among authors: deufel t. Hum Mutat. 2014 Apr;35(4):497-504. doi: 10.1002/humu.22521. Epub 2014 Mar 5. Hum Mutat. 2014. PMID: 24478229

10

A polymorphic Alu insertion that mediates distinct disease-associated deletions.

Jahic A, Erichsen AK, Deufel T, Tallaksen CM, Beetz C. Jahic A, et al. Among authors: deufel t. Eur J Hum Genet. 2016 Aug;24(9):1371-4. doi: 10.1038/ejhg.2016.20. Epub 2016 Mar 2. Eur J Hum Genet. 2016. PMID: 26932189 Free PMC article.

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