Schüle R - Search Results

1

Phenotype and frequency of STUB1 mutations: next-generation screenings in Caucasian ataxia and spastic paraplegia cohorts.

Synofzik M, Schüle R, Schulze M, Gburek-Augustat J, Schweizer R, Schirmacher A, Krägeloh-Mann I, Gonzalez M, Young P, Züchner S, Schöls L, Bauer P. Synofzik M, et al. Among authors: schule r. Orphanet J Rare Dis. 2014 Apr 17;9:57. doi: 10.1186/1750-1172-9-57. Orphanet J Rare Dis. 2014. PMID: 24742043 Free PMC article.

2

The Spastic Paraplegia Rating Scale (SPRS): a reliable and valid measure of disease severity.

Schüle R, Holland-Letz T, Klimpe S, Kassubek J, Klopstock T, Mall V, Otto S, Winner B, Schöls L. Schüle R, et al. Neurology. 2006 Aug 8;67(3):430-4. doi: 10.1212/01.wnl.0000228242.53336.90. Neurology. 2006. PMID: 16894103

3

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: schule r. Neurology. 2006 Dec 12;67(11):1926-30. doi: 10.1212/01.wnl.0000244413.49258.f5. Epub 2006 Oct 11. Neurology. 2006. PMID: 17035675

4

Cerebrotendinous xanthomatosis.

Schöls L, Nägele T, Schüle R, Berg D. Schöls L, et al. Among authors: schule r. Neurology. 2006 Dec 12;67(11):E20. doi: 10.1212/01.wnl.0000247673.08554.0f. Neurology. 2006. PMID: 17159091 No abstract available.

5

Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia.

Hehr U, Bauer P, Winner B, Schule R, Olmez A, Koehler W, Uyanik G, Engel A, Lenz D, Seibel A, Hehr A, Ploetz S, Gamez J, Rolfs A, Weis J, Ringer TM, Bonin M, Schuierer G, Marienhagen J, Bogdahn U, Weber BH, Topaloglu H, Schols L, Riess O, Winkler J. Hehr U, et al. Among authors: schule r. Ann Neurol. 2007 Dec;62(6):656-65. doi: 10.1002/ana.21310. Ann Neurol. 2007. PMID: 18067136

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: schule r. 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

Effect of spastic paraplegia mutations in KIF5A kinesin on transport activity.

Ebbing B, Mann K, Starosta A, Jaud J, Schöls L, Schüle R, Woehlke G. Ebbing B, et al. Among authors: schule r. Hum Mol Genet. 2008 May 1;17(9):1245-52. doi: 10.1093/hmg/ddn014. Epub 2008 Jan 18. Hum Mol Genet. 2008. PMID: 18203753

8

SPG10 is a rare cause of spastic paraplegia in European families.

Schüle R, Kremer BP, Kassubek J, Auer-Grumbach M, Kostic V, Klopstock T, Klimpe S, Otto S, Boesch S, van de Warrenburg BP, Schöls L. Schüle R, et al. J Neurol Neurosurg Psychiatry. 2008 May;79(5):584-7. doi: 10.1136/jnnp.2007.137596. Epub 2008 Feb 1. J Neurol Neurosurg Psychiatry. 2008. PMID: 18245137 Free article.

9

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: schule r. Brain. 2008 Apr;131(Pt 4):1078-86. doi: 10.1093/brain/awn026. Epub 2008 Mar 5. Brain. 2008. PMID: 18321925 Free PMC article.

10

"Pseudodominant inheritance" of ataxia with ocular apraxia type 2 (AOA2).

Schöls L, Arning L, Schüle R, Epplen JT, Timmann D. Schöls L, et al. Among authors: schule r. J Neurol. 2008 Apr;255(4):495-501. doi: 10.1007/s00415-008-0707-z. Epub 2008 Mar 20. J Neurol. 2008. PMID: 18350359

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