Schuster S - Search Results

1

FIG4 mutations leading to parkinsonism and a phenotypical continuum between CMT4J and Yunis Varón syndrome.

Zimmermann M, Schuster S, Boesch S, Korenke GC, Mohr J, Reichbauer J, Kernstock C, Kotzot D, Spahlinger V, Schüle-Freyer R, Schöls L. Zimmermann M, et al. Among authors: schuster s. Parkinsonism Relat Disord. 2020 May;74:6-11. doi: 10.1016/j.parkreldis.2020.03.021. Epub 2020 Mar 28. Parkinsonism Relat Disord. 2020. PMID: 32268254

2

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: schuster s. 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.

3

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. 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.

4

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. 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.

5

CHIP mutations affect the heat shock response differently in human fibroblasts and iPSC-derived neurons.

Schuster S, Heuten E, Velic A, Admard J, Synofzik M, Ossowski S, Macek B, Hauser S, Schöls L. Schuster S, et al. Dis Model Mech. 2020 Oct 12;13(10):dmm045096. doi: 10.1242/dmm.045096. Dis Model Mech. 2020. PMID: 33097556 Free PMC article.

6

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: schuster s. 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.

7

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: schuster s. 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.

8

mRNA as a Novel Treatment Strategy for Hereditary Spastic Paraplegia Type 5.

Hauser S, Poenisch M, Schelling Y, Höflinger P, Schuster S, Teegler A, Betten R, Gustafsson JÅ, Hübener-Schmid J, Schlake T, Chevessier-Tünnesen F, Horscroft N, Björkhem I, Schöls L. Hauser S, et al. Among authors: schuster s. Mol Ther Methods Clin Dev. 2019 Oct 31;15:359-370. doi: 10.1016/j.omtm.2019.10.011. eCollection 2019 Dec 13. Mol Ther Methods Clin Dev. 2019. PMID: 31828178 Free PMC article.

9

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: schuster s. Sci Rep. 2020 May 21;10(1):8391. doi: 10.1038/s41598-020-64845-0. Sci Rep. 2020. PMID: 32439941 Free PMC article.

10

Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder.

Hengel H, Hannan SB, Dyack S, MacKay SB, Schatz U, Fleger M, Kurringer A, Balousha G, Ghanim Z, Alkuraya FS, Alzaidan H, Alsaif HS, Mitani T, Bozdogan S, Pehlivan D, Lupski JR, Gleeson JJ, Dehghani M, Mehrjardi MYV, Sherr EH, Parks KC, Argilli E, Begtrup A, Galehdari H, Balousha O, Shariati G, Mazaheri N, Malamiri RA, Pagnamenta AT, Kingston H, Banka S, Jackson A, Osmond M; Care4Rare Canada Consortium; Genomics England Research Consortium; Rieß A, Haack TB, Nägele T, Schuster S, Hauser S, Admard J, Casadei N, Velic A, Macek B, Ossowski S, Houlden H, Maroofian R, Schöls L. Hengel H, et al. Among authors: schuster s. Am J Hum Genet. 2021 Jun 3;108(6):1069-1082. doi: 10.1016/j.ajhg.2021.04.024. Epub 2021 May 21. Am J Hum Genet. 2021. PMID: 34022130 Free PMC article.

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