Schöls L - Search Results

1

Defining diagnostic cutoffs in neurological patients for serum very long chain fatty acids (VLCFA) in genetically confirmed X-Adrenoleukodystrophy.

Rattay TW, Rautenberg M, Söhn AS, Hengel H, Traschütz A, Röben B, Hayer SN, Schüle R, Wiethoff S, Zeltner L, Haack TB, Cegan A, Schöls L, Schleicher E, Peter A. Rattay TW, et al. Among authors: schols l. Sci Rep. 2020 Sep 15;10(1):15093. doi: 10.1038/s41598-020-71248-8. Sci Rep. 2020. PMID: 32934269 Free PMC article.

2

Cerebrotendinous xanthomatosis.

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

3

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

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

4

Identification of a heterozygous genomic deletion in the spatacsin gene in SPG11 patients using high-resolution comparative genomic hybridization.

Bauer P, Winner B, Schüle R, Bauer C, Häfele V, Hehr U, Bonin M, Walter M, Karle K, Ringer TM, Riess O, Winkler J, Schöls L. Bauer P, et al. Among authors: schols l. Neurogenetics. 2009 Feb;10(1):43-8. doi: 10.1007/s10048-008-0144-2. Epub 2008 Sep 12. Neurogenetics. 2009. PMID: 18787847

5

Marked accumulation of 27-hydroxycholesterol in SPG5 patients with hereditary spastic paresis.

Schüle R, Siddique T, Deng HX, Yang Y, Donkervoort S, Hansson M, Madrid RE, Siddique N, Schöls L, Björkhem I. Schüle R, et al. Among authors: schols l. J Lipid Res. 2010 Apr;51(4):819-23. doi: 10.1194/jlr.M002543. Epub 2009 Oct 7. J Lipid Res. 2010. PMID: 19812052 Free PMC article.

6

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.

7

Prevalence of THAP1 sequence variants in German patients with primary dystonia.

Söhn AS, Glöckle N, Doetzer AD, Deuschl G, Felbor U, Topka HR, Schöls L, Riess O, Bauer P, Müller U, Grundmann K. Söhn AS, et al. Among authors: schols l. Mov Disord. 2010 Sep 15;25(12):1982-6. doi: 10.1002/mds.23207. Mov Disord. 2010. PMID: 20669277

8

Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients.

Schlipf NA, Schüle R, Klimpe S, Karle KN, Synofzik M, Schicks J, Riess O, Schöls L, Bauer P. Schlipf NA, et al. Among authors: schols l. Clin Genet. 2011 Aug;80(2):148-60. doi: 10.1111/j.1399-0004.2011.01715.x. Epub 2011 Jun 13. Clin Genet. 2011. PMID: 21623769

9

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.

10

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

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