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Page 1
The spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8.
Jahic A, Khundadze M, Jaenisch N, Schüle R, Klimpe S, Klebe S, Frahm C, Kassubek J, Stevanin G, Schöls L, Brice A, Hübner CA, Beetz C. Jahic A, et al. Among authors: klimpe s. Orphanet J Rare Dis. 2015 Nov 16;10:147. doi: 10.1186/s13023-015-0359-x. Orphanet J Rare Dis. 2015. PMID: 26572744 Free PMC article.
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: klimpe s. Neurogenetics. 2009 Apr;10(2):97-104. doi: 10.1007/s10048-008-0158-9. Epub 2008 Oct 15. Neurogenetics. 2009. PMID: 18855023
A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42).
Schlipf NA, Beetz C, Schüle R, Stevanin G, Erichsen AK, Forlani S, Zaros C, Karle K, Klebe S, Klimpe S, Durr A, Otto S, Tallaksen CM, Riess O, Brice A, Bauer P, Schöls L. Schlipf NA, et al. Among authors: klimpe s. Eur J Hum Genet. 2010 Sep;18(9):1065-7. doi: 10.1038/ejhg.2010.68. Epub 2010 May 12. Eur J Hum Genet. 2010. PMID: 20461110 Free PMC article.
Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients.
Schüle R, Wiethoff S, Martus P, Karle KN, Otto S, Klebe S, Klimpe S, Gallenmüller C, Kurzwelly D, Henkel D, Rimmele F, Stolze H, Kohl Z, Kassubek J, Klockgether T, Vielhaber S, Kamm C, Klopstock T, Bauer P, Züchner S, Liepelt-Scarfone I, Schöls L. Schüle R, et al. Among authors: klimpe s. Ann Neurol. 2016 Apr;79(4):646-58. doi: 10.1002/ana.24611. Epub 2016 Mar 11. Ann Neurol. 2016. PMID: 26856398
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: klimpe s. Brain. 2008 Apr;131(Pt 4):1078-86. doi: 10.1093/brain/awn026. Epub 2008 Mar 5. Brain. 2008. PMID: 18321925 Free PMC article.
A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes.
Dufke C, Schlipf N, Schüle R, Bonin M, Auer-Grumbach M, Stevanin G, Depienne C, Kassubek J, Klebe S, Klimpe S, Klopstock T, Otto S, Poths S, Seibel A, Stolze H, Gal A, Schöls L, Bauer P. Dufke C, et al. Among authors: klimpe s. Neurogenetics. 2012 Aug;13(3):215-27. doi: 10.1007/s10048-012-0329-6. Epub 2012 May 3. Neurogenetics. 2012. PMID: 22552817
AP5Z1/SPG48 frequency in autosomal recessive and sporadic spastic paraplegia.
Schlipf NA, Schüle R, Klimpe S, Karle KN, Synofzik M, Wolf J, Riess O, Schöls L, Bauer P. Schlipf NA, et al. Among authors: klimpe s. Mol Genet Genomic Med. 2014 Sep;2(5):379-82. doi: 10.1002/mgg3.87. Epub 2014 May 25. Mol Genet Genomic Med. 2014. PMID: 25333062 Free PMC article.
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: klimpe s. Neurology. 2006 Dec 12;67(11):1926-30. doi: 10.1212/01.wnl.0000244413.49258.f5. Epub 2006 Oct 11. Neurology. 2006. PMID: 17035675
36 results