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Page 1
Decreased retinal sensitivity and loss of retinal nerve fibers in multiple system atrophy.
Fischer MD, Synofzik M, Kernstock C, Dietzsch J, Heidlauf R, Schicks J, Srulijes K, Wiethoff S, Menn O, Berg D, Schöls L, Schiefer U. Fischer MD, et al. Among authors: kernstock c. Graefes Arch Clin Exp Ophthalmol. 2013 Jan;251(1):235-41. doi: 10.1007/s00417-012-2118-1. Epub 2012 Aug 10. Graefes Arch Clin Exp Ophthalmol. 2013. PMID: 22878471
PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum.
Synofzik M, Gonzalez MA, Lourenco CM, Coutelier M, Haack TB, Rebelo A, Hannequin D, Strom TM, Prokisch H, Kernstock C, Durr A, Schöls L, Lima-Martínez MM, Farooq A, Schüle R, Stevanin G, Marques W Jr, Züchner S. Synofzik M, et al. Among authors: kernstock c. Brain. 2014 Jan;137(Pt 1):69-77. doi: 10.1093/brain/awt326. Epub 2013 Dec 19. Brain. 2014. PMID: 24355708 Free PMC article.
Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia.
Wagner M, Osborn DPS, Gehweiler I, Nagel M, Ulmer U, Bakhtiari S, Amouri R, Boostani R, Hentati F, Hockley MM, Hölbling B, Schwarzmayr T, Karimiani EG, Kernstock C, Maroofian R, Müller-Felber W, Ozkan E, Padilla-Lopez S, Reich S, Reichbauer J, Darvish H, Shahmohammadibeni N, Tafakhori A, Vill K, Zuchner S, Kruer MC, Winkelmann J, Jamshidi Y, Schüle R. Wagner M, et al. Among authors: kernstock c. Nat Commun. 2019 Oct 21;10(1):4790. doi: 10.1038/s41467-019-12620-9. Nat Commun. 2019. PMID: 31636353 Free PMC article.
Confirmation of TACO1 as a Leigh Syndrome Disease Gene in Two Additional Families.
Oktay Y, Güngör S, Zeltner L, Wiethoff S, Schöls L, Sonmezler E, Yilmaz E, Munro B, Bender B, Kernstock C, Kaemereit S, Liepelt I, Töpf A, Yis U, Laurie S, Yaramis A, Zuchner S, Hiz S, Lochmüller H, Schüle R, Horvath R. Oktay Y, et al. Among authors: kernstock c. J Neuromuscul Dis. 2020;7(3):301-308. doi: 10.3233/JND-200510. J Neuromuscul Dis. 2020. PMID: 32444556 Free PMC article.
Retinal nerve fiber layer loss in multiple system atrophy.
Fischer MD, Synofzik M, Heidlauf R, Schicks J, Srulijes K, Kernstock C, Berg D, Schöls L, Schiefer U. Fischer MD, et al. Among authors: kernstock c. Mov Disord. 2011 Apr;26(5):914-6. doi: 10.1002/mds.23523. Epub 2011 Mar 21. Mov Disord. 2011. PMID: 21425333 No abstract available.
Comprehensive analysis of two hotspot codons in the TUBB4B gene and associated phenotypes.
Bodenbender JP, Marino V, Philipp J, Tropitzsch A, Kernstock C, Stingl K, Kempf M, Haack TB, Zuleger T, Mazzola P, Kohl S, Weisschuh N, Dell'Orco D, Kühlewein L. Bodenbender JP, et al. Among authors: kernstock c. Sci Rep. 2024 May 8;14(1):10551. doi: 10.1038/s41598-024-61019-0. Sci Rep. 2024. PMID: 38719929 Free PMC article.
In vivo assessment of retinal vascular wall dimensions.
Fischer MD, Huber G, Feng Y, Tanimoto N, Mühlfriedel R, Beck SC, Tröger E, Kernstock C, Preising MN, Lorenz B, Hammes HP, Seeliger MW. Fischer MD, et al. Among authors: kernstock c. Invest Ophthalmol Vis Sci. 2010 Oct;51(10):5254-9. doi: 10.1167/iovs.09-5139. Epub 2010 May 5. Invest Ophthalmol Vis Sci. 2010. PMID: 20445120
29 results