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128 results

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Page 1
Neurofilament light chain is a cerebrospinal fluid biomarker in hereditary spastic paraplegia.
Kessler C, Serna-Higuita LM, Rattay TW, Maetzler W, Wurster I, Hayer S, Wilke C, Hengel H, Reichbauer J, Armbruster M, Schöls L, Martus P, Schüle R. Kessler C, et al. Among authors: hayer s. Ann Clin Transl Neurol. 2021 May;8(5):1122-1131. doi: 10.1002/acn3.51358. Epub 2021 Apr 5. Ann Clin Transl Neurol. 2021. PMID: 33819388 Free PMC article.
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.
NfL and pNfH are increased in Friedreich's ataxia.
Hayer SN, Liepelt I, Barro C, Wilke C, Kuhle J, Martus P, Schöls L; EFACTS study group. Hayer SN, et al. J Neurol. 2020 May;267(5):1420-1430. doi: 10.1007/s00415-020-09722-6. Epub 2020 Jan 30. J Neurol. 2020. PMID: 32002649 Free PMC article.
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.
Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 4-year cohort study.
Reetz K, Dogan I, Hilgers RD, Giunti P, Parkinson MH, Mariotti C, Nanetti L, Durr A, Ewenczyk C, Boesch S, Nachbauer W, Klopstock T, Stendel C, Rodríguez de Rivera Garrido FJ, Rummey C, Schöls L, Hayer SN, Klockgether T, Giordano I, Didszun C, Rai M, Pandolfo M, Schulz JB; EFACTS study group. Reetz K, et al. Among authors: hayer sn. Lancet Neurol. 2021 May;20(5):362-372. doi: 10.1016/S1474-4422(21)00027-2. Epub 2021 Mar 23. Lancet Neurol. 2021. PMID: 33770527
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.
Park J, Tucci A, Cipriani V, Demidov G, Rocca C, Senderek J, Butryn M, Velic A, Lam T, Galanaki E, Cali E, Vestito L, Maroofian R, Deininger N, Rautenberg M, Admard J, Hahn GA, Bartels C, van Os NJH, Horvath R, Chinnery PF, Tiet MY, Hewamadduma C, Hadjivassiliou M, Tofaris GK; Genomics England Research Consortium; Wood NW, Hayer SN, Bender F, Menden B, Cordts I, Klein K, Nguyen HP, Krauss JK, Blahak C, Strom TM, Sturm M, van de Warrenburg B, Lerche H, Maček B, Synofzik M, Ossowski S, Timmann D, Wolf ME, Smedley D, Riess O, Schöls L, Houlden H, Haack TB, Hengel H. Park J, et al. Among authors: hayer sn. Genet Med. 2022 Oct;24(10):2079-2090. doi: 10.1016/j.gim.2022.07.006. Epub 2022 Aug 20. Genet Med. 2022. PMID: 35986737 Free article.
Prediction of the disease course in Friedreich ataxia.
Hohenfeld C, Terstiege U, Dogan I, Giunti P, Parkinson MH, Mariotti C, Nanetti L, Fichera M, Durr A, Ewenczyk C, Boesch S, Nachbauer W, Klopstock T, Stendel C, Rodríguez de Rivera Garrido FJ, Schöls L, Hayer SN, Klockgether T, Giordano I, Didszun C, Rai M, Pandolfo M, Rauhut H, Schulz JB, Reetz K. Hohenfeld C, et al. Among authors: hayer sn. Sci Rep. 2022 Nov 10;12(1):19173. doi: 10.1038/s41598-022-23666-z. Sci Rep. 2022. PMID: 36357508 Free PMC article.
Longitudinal changes of SARA scale in Friedreich ataxia: Strong influence of baseline score and age at onset.
Porcu L, Fichera M, Nanetti L, Rulli E, Giunti P, Parkinson MH, Durr A, Ewenczyk C, Boesch S, Nachbauer W, Indelicato E, Klopstock T, Stendel C, Rodríguez de Rivera FJ, Schöls L, Fleszar Z, Giordano I, Didszun C, Castaldo A, Rai M, Klockgether T, Pandolfo M, Schulz JB, Reetz K, Mariotti C; EFACTS Study Group. Porcu L, et al. Ann Clin Transl Neurol. 2023 Nov;10(11):2000-2012. doi: 10.1002/acn3.51886. Epub 2023 Aug 28. Ann Clin Transl Neurol. 2023. PMID: 37641437 Free PMC article.
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.
Park J, Tucci A, Cipriani V, Demidov G, Rocca C, Senderek J, Butryn M, Velic A, Lam T, Galanaki E, Cali E, Vestito L, Maroofian R, Deininger N, Rautenberg M, Admard J, Hahn GA, Bartels C, van Os NJH, Horvath R, Chinnery PF, Tiet MY, Hewamadduma C, Hadjivassiliou M, Downes SM, Németh AH, Tofaris GK; Genomics England Research Consortium; Wood NW, Hayer SN, Bender F, Menden B, Cordts I, Klein K, Nguyen HP, Krauss JK, Blahak C, Strom TM, Sturm M, van de Warrenburg B, Lerche H, Maček B, Synofzik M, Ossowski S, Timmann D, Wolf ME, Smedley D, Riess O, Schöls L, Houlden H, Haack TB, Hengel H. Park J, et al. Among authors: hayer sn. Genet Med. 2023 Oct;25(10):100961. doi: 10.1016/j.gim.2023.100961. Epub 2023 Aug 31. Genet Med. 2023. PMID: 37650884 Free article. No abstract available.
Novel variants in CSF1R associated with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP).
Schmitz AS, Raju J, Köhler W, Klebe S, Cheheb K, Reschke F, Biskup S, Haack TB, Roeben B, Kellner M, Rahner N, Bloch T, Lemke J, Bender B, Schöls L, Hengel H, Hayer SN. Schmitz AS, et al. Among authors: hayer sn. J Neurol. 2024 Sep;271(9):6025-6037. doi: 10.1007/s00415-024-12557-0. Epub 2024 Jul 20. J Neurol. 2024. PMID: 39031193 Free PMC article.
128 results