Höflinger P - Search Results

1

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. 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.

2

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. 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.

3

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: hoflinger p. 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.

4

Establishment of STUB1/CHIP mutant induced pluripotent stem cells (iPSCs) from a patient with Gordon Holmes syndrome/SCAR16.

Schuster S, Schelling Y, Synofzik M, Höflinger P, Schöls L, Hauser S. Schuster S, et al. Among authors: hoflinger p. Stem Cell Res. 2018 May;29:166-169. doi: 10.1016/j.scr.2018.04.001. Epub 2018 Apr 9. Stem Cell Res. 2018. PMID: 29679845 Free article.

5

Generation of the CRISPR/Cas9-mediated KIF1C knock-out human iPSC line HIHRSi003-A-1.

Nagel M, Müßig S, Höflinger P, Schöls L, Hauser S, Schüle R. Nagel M, et al. Among authors: hoflinger p. Stem Cell Res. 2020 Dec;49:102059. doi: 10.1016/j.scr.2020.102059. Epub 2020 Oct 29. Stem Cell Res. 2020. PMID: 33161238 Free article.

6

Metabolic profiling in serum, cerebrospinal fluid, and brain of patients with cerebrotendinous xanthomatosis.

Höflinger P, Hauser S, Yutuc E, Hengel H, Griffiths L, Radelfahr F, Howell OW, Wang Y, Connor SL, Duell PB, DeBarber AE, Martus P, Lütjohann D, Griffiths WJ, Schöls L. Höflinger P, et al. J Lipid Res. 2021;62:100078. doi: 10.1016/j.jlr.2021.100078. Epub 2021 Apr 20. J Lipid Res. 2021. PMID: 33891937 Free PMC article.

7

Lithium Sensitive ORAI1 Expression, Store Operated Ca²⁺ Entry and Suicidal Death of Neurons in Chorea-Acanthocytosis.

Pelzl L, Hauser S, Elsir B, Sukkar B, Sahu I, Singh Y, Höflinger P, Bissinger R, Jemaà M, Stournaras C, Schöls L, Lang F. Pelzl L, et al. Among authors: hoflinger p. Sci Rep. 2017 Jul 25;7(1):6457. doi: 10.1038/s41598-017-06451-1. Sci Rep. 2017. PMID: 28743945 Free PMC article.

8

Decreased Na⁺/K⁺ ATPase Expression and Depolarized Cell Membrane in Neurons Differentiated from Chorea-Acanthocytosis Patients.

Hosseinzadeh Z, Hauser S, Singh Y, Pelzl L, Schuster S, Sharma Y, Höflinger P, Zacharopoulou N, Stournaras C, Rathbun DL, Zrenner E, Schöls L, Lang F. Hosseinzadeh Z, et al. Among authors: hoflinger p. Sci Rep. 2020 May 21;10(1):8391. doi: 10.1038/s41598-020-64845-0. Sci Rep. 2020. PMID: 32439941 Free PMC article.

9

Comparative Transcriptional Profiling of Motor Neuron Disorder-Associated Genes in Various Human Cell Culture Models.

Hauser S, Schuster S, Heuten E, Höflinger P, Admard J, Schelling Y, Velic A, Macek B, Ossowski S, Schöls L. Hauser S, et al. Among authors: hoflinger p. Front Cell Dev Biol. 2020 Sep 24;8:544043. doi: 10.3389/fcell.2020.544043. eCollection 2020. Front Cell Dev Biol. 2020. PMID: 33072739 Free PMC article.

10

Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial.

Schöls L, Rattay TW, Martus P, Meisner C, Baets J, Fischer I, Jägle C, Fraidakis MJ, Martinuzzi A, Saute JA, Scarlato M, Antenora A, Stendel C, Höflinger P, Lourenco CM, Abreu L, Smets K, Paucar M, Deconinck T, Bis DM, Wiethoff S, Bauer P, Arnoldi A, Marques W, Jardim LB, Hauser S, Criscuolo C, Filla A, Züchner S, Bassi MT, Klopstock T, De Jonghe P, Björkhem I, Schüle R. Schöls L, et al. Among authors: hoflinger p. Brain. 2017 Dec 1;140(12):3112-3127. doi: 10.1093/brain/awx273. Brain. 2017. PMID: 29126212 Free PMC article. Clinical Trial.

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