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509 results

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CNS-associated T-lymphocytes in a mouse model of Hereditary Spastic Paraplegia type 11 (SPG11) are therapeutic targets for established immunomodulators.
Hörner M, Groh J, Klein D, Ilg W, Schöls L, Dos Santos S, Bergmann A, Klebe S, Cauhape M, Branchu J, El Hachimi KH, Stevanin G, Darios F, Martini R. Hörner M, et al. Among authors: schols l. Exp Neurol. 2022 Sep;355:114119. doi: 10.1016/j.expneurol.2022.114119. Epub 2022 May 20. Exp Neurol. 2022. PMID: 35605667
New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14.
Klebe S, Durr A, Rentschler A, Hahn-Barma V, Abele M, Bouslam N, Schöls L, Jedynak P, Forlani S, Denis E, Dussert C, Agid Y, Bauer P, Globas C, Wüllner U, Brice A, Riess O, Stevanin G. Klebe S, et al. Among authors: schols l. Ann Neurol. 2005 Nov;58(5):720-9. doi: 10.1002/ana.20628. Ann Neurol. 2005. PMID: 16193476
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: schols l. Brain. 2008 Apr;131(Pt 4):1078-86. doi: 10.1093/brain/awn026. Epub 2008 Mar 5. Brain. 2008. PMID: 18321925 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: schols l. 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: schols l. 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.
Spinocerebellar ataxia type 11 (SCA11) is an uncommon cause of dominant ataxia among French and German kindreds.
Bauer P, Stevanin G, Beetz C, Synofzik M, Schmitz-Hübsch T, Wüllner U, Berthier E, Ollagnon-Roman E, Riess O, Forlani S, Mundwiller E, Durr A, Schöls L, Brice A. Bauer P, et al. Among authors: schols l. J Neurol Neurosurg Psychiatry. 2010 Nov;81(11):1229-32. doi: 10.1136/jnnp.2009.202150. Epub 2010 Jul 28. J Neurol Neurosurg Psychiatry. 2010. PMID: 20667868
Genetics of hereditary spastic paraplegias.
Schüle R, Schöls L. Schüle R, et al. Among authors: schols l. Semin Neurol. 2011 Nov;31(5):484-93. doi: 10.1055/s-0031-1299787. Epub 2012 Jan 21. Semin Neurol. 2011. PMID: 22266886 Review.
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: schols l. Neurogenetics. 2012 Aug;13(3):215-27. doi: 10.1007/s10048-012-0329-6. Epub 2012 May 3. Neurogenetics. 2012. PMID: 22552817
509 results