Schöls L - Search Results

1

Generation of a homozygous CRISPR/Cas9-mediated knockout human iPSC line for the STUB1 locus.

Schuster S, Saravanakumar S, Schöls L, Hauser S. Schuster S, et al. Among authors: schols l. Stem Cell Res. 2019 Jan;34:101378. doi: 10.1016/j.scr.2018.101378. Epub 2018 Dec 21. Stem Cell Res. 2019. PMID: 30605842 Free article.

2

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: schols l. 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.

3

Inducing Differentiation of Premalignant Hepatic Cells as a Novel Therapeutic Strategy in Hepatocarcinoma.

Wolf B, Krieg K, Falk C, Breuhahn K, Keppeler H, Biedermann T, Schmid E, Warmann S, Fuchs J, Vetter S, Thiele D, Nieser M, Avci-Adali M, Skokowa Y, Schöls L, Hauser S, Ringelhan M, Yevsa T, Heikenwalder M, Kossatz-Boehlert U. Wolf B, et al. Among authors: schols l. Cancer Res. 2016 Sep 15;76(18):5550-61. doi: 10.1158/0008-5472.CAN-15-3453. Epub 2016 Aug 3. Cancer Res. 2016. PMID: 27488521

4

Establishment of SPAST mutant induced pluripotent stem cells (iPSCs) from a hereditary spastic paraplegia (HSP) patient.

Hauser S, Erzler M, Theurer Y, Schuster S, Schüle R, Schöls L. Hauser S, et al. Among authors: schols l. Stem Cell Res. 2016 Nov;17(3):485-488. doi: 10.1016/j.scr.2016.09.022. Epub 2016 Sep 26. Stem Cell Res. 2016. PMID: 27789400 Free article.

5

Generation of induced pluripotent stem cells (iPSCs) from a hereditary spastic paraplegia patient carrying a homozygous R486C mutation in CYP7B1 (SPG5).

Höflinger P, Theurer Y, Schüle R, Schöls L, Hauser S. Höflinger P, et al. Among authors: schols l. Stem Cell Res. 2016 Sep;17(2):422-425. doi: 10.1016/j.scr.2016.09.013. Epub 2016 Sep 17. Stem Cell Res. 2016. PMID: 27879216 Free article.

6

Generation of optic atrophy 1 patient-derived induced pluripotent stem cells (iPS-OPA1-BEHR) for disease modeling of complex optic atrophy syndromes (Behr syndrome).

Hauser S, Schuster S, Theurer Y, Synofzik M, Schöls L. Hauser S, et al. Among authors: schols l. Stem Cell Res. 2016 Sep;17(2):426-429. doi: 10.1016/j.scr.2016.09.012. Epub 2016 Sep 17. Stem Cell Res. 2016. PMID: 27879217 Free article.

7

Induced pluripotent stem cells (iPSCs) derived from cerebrotendinous xanthomatosis (CTX) patient's fibroblasts carrying a R395S mutation.

Höflinger P, Hauser S, Theurer Y, Weißenberger S, Wilke C, Schöls L. Höflinger P, et al. Among authors: schols l. Stem Cell Res. 2016 Sep;17(2):433-436. doi: 10.1016/j.scr.2016.09.010. Epub 2016 Sep 17. Stem Cell Res. 2016. PMID: 27879219 Free article.

8

Generation of induced pluripotent stem cells (iPSCs) from a hereditary spastic paraplegia patient carrying a homozygous Y275X mutation in CYP7B1 (SPG5).

Hauser S, Höflinger P, Theurer Y, Rattay TW, Schöls L. Hauser S, et al. Among authors: schols l. Stem Cell Res. 2016 Sep;17(2):437-440. doi: 10.1016/j.scr.2016.09.011. Epub 2016 Sep 18. Stem Cell Res. 2016. PMID: 27879220 Free article.

9

STUB1/CHIP mutations cause Gordon Holmes syndrome as part of a widespread multisystemic neurodegeneration: evidence from four novel mutations.

Hayer SN, Deconinck T, Bender B, Smets K, Züchner S, Reich S, Schöls L, Schüle R, De Jonghe P, Baets J, Synofzik M. Hayer SN, et al. Among authors: schols l. Orphanet J Rare Dis. 2017 Feb 13;12(1):31. doi: 10.1186/s13023-017-0580-x. Orphanet J Rare Dis. 2017. PMID: 28193273 Free PMC article.

10

A combinatorial approach to identify calpain cleavage sites in the Machado-Joseph disease protein ataxin-3.

Weber JJ, Golla M, Guaitoli G, Wanichawan P, Hayer SN, Hauser S, Krahl AC, Nagel M, Samer S, Aronica E, Carlson CR, Schöls L, Riess O, Gloeckner CJ, Nguyen HP, Hübener-Schmid J. Weber JJ, et al. Among authors: schols l. Brain. 2017 May 1;140(5):1280-1299. doi: 10.1093/brain/awx039. Brain. 2017. PMID: 28334907

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