Hayer SN - 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: hayer sn. Sci Rep. 2020 Sep 15;10(1):15093. doi: 10.1038/s41598-020-71248-8. Sci Rep. 2020. PMID: 32934269 Free PMC article.

2

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. 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.

3

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: hayer sn. Brain. 2017 May 1;140(5):1280-1299. doi: 10.1093/brain/awx039. Brain. 2017. PMID: 28334907

4

Beyond ALS and FTD: the phenotypic spectrum of TBK1 mutations includes PSP-like and cerebellar phenotypes.

Wilke C, Baets J, De Bleecker JL, Deconinck T, Biskup S, Hayer SN, Züchner S, Schüle R, De Jonghe P, Synofzik M. Wilke C, et al. Among authors: hayer sn. Neurobiol Aging. 2018 Feb;62:244.e9-244.e13. doi: 10.1016/j.neurobiolaging.2017.10.010. Epub 2017 Oct 24. Neurobiol Aging. 2018. PMID: 29137817

5

Serum neurofilament light is increased in multiple system atrophy of cerebellar type and in repeat-expansion spinocerebellar ataxias: a pilot study.

Wilke C, Bender F, Hayer SN, Brockmann K, Schöls L, Kuhle J, Synofzik M. Wilke C, et al. Among authors: hayer sn. J Neurol. 2018 Jul;265(7):1618-1624. doi: 10.1007/s00415-018-8893-9. Epub 2018 May 8. J Neurol. 2018. PMID: 29737427

6

Generation of an induced pluripotent stem cell line from a patient with spinocerebellar ataxia type 3 (SCA3): HIHCNi002-A.

Hayer SN, Schelling Y, Huebener-Schmid J, Weber JJ, Hauser S, Schöls L. Hayer SN, et al. Stem Cell Res. 2018 Jul;30:171-174. doi: 10.1016/j.scr.2018.06.006. Epub 2018 Jun 11. Stem Cell Res. 2018. PMID: 29936336 Free article.

7

Generation of an induced pluripotent stem cell line from a patient with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP): HIHCNi003-A.

Hayer SN, Schelling Y, Hoeflinger P, Hauser S, Schöls L. Hayer SN, et al. Stem Cell Res. 2018 Jul;30:206-209. doi: 10.1016/j.scr.2018.06.011. Epub 2018 Jun 20. Stem Cell Res. 2018. PMID: 29980109 Free article.

8

NfL is a biomarker for adult-onset leukoencephalopathy with axonal spheroids and pigmented glia.

Hayer SN, Krey I, Barro C, Rössler F, Körtvelyessy P, Lemke JR, Kuhle J, Schöls L. Hayer SN, et al. Neurology. 2018 Oct 16;91(16):755-757. doi: 10.1212/WNL.0000000000006357. Epub 2018 Sep 14. Neurology. 2018. PMID: 30217938 No abstract available.

9

TSFM mutations cause a complex hyperkinetic movement disorder with strong relief by cannabinoids.

Traschütz A, Hayer SN, Bender B, Schöls L, Biskup S, Synofzik M. Traschütz A, et al. Among authors: hayer sn. Parkinsonism Relat Disord. 2019 Mar;60:176-178. doi: 10.1016/j.parkreldis.2018.09.031. Epub 2018 Sep 29. Parkinsonism Relat Disord. 2019. PMID: 30297209 No abstract available.

10

Mitochondrial Morphology, Function and Homeostasis Are Impaired by Expression of an N-terminal Calpain Cleavage Fragment of Ataxin-3.

Harmuth T, Prell-Schicker C, Weber JJ, Gellerich F, Funke C, Drießen S, Magg JCD, Krebiehl G, Wolburg H, Hayer SN, Hauser S, Krüger R, Schöls L, Riess O, Hübener-Schmid J. Harmuth T, et al. Among authors: hayer sn. Front Mol Neurosci. 2018 Oct 10;11:368. doi: 10.3389/fnmol.2018.00368. eCollection 2018. Front Mol Neurosci. 2018. PMID: 30364204 Free PMC article.

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