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Year | Number of Results |
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2016 | 2 |
2017 | 1 |
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2024 | 0 |
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NEK1 loss-of-function mutation induces DNA damage accumulation in ALS patient-derived motoneurons.
Stem Cell Res. 2018 Jul;30:150-162. doi: 10.1016/j.scr.2018.06.005. Epub 2018 Jun 12.
Stem Cell Res. 2018.
PMID: 29929116
Free article.
Autism-associated SHANK3 mutations impair maturation of neuromuscular junctions and striated muscles.
Lutz AK, Pfaender S, Incearap B, Ioannidis V, Ottonelli I, Föhr KJ, Cammerer J, Zoller M, Higelin J, Giona F, Stetter M, Stoecker N, Alami NO, Schön M, Orth M, Liebau S, Barbi G, Grabrucker AM, Delorme R, Fauler M, Mayer B, Jesse S, Roselli F, Ludolph AC, Bourgeron T, Verpelli C, Demestre M, Boeckers TM.
Lutz AK, et al. Among authors: higelin j.
Sci Transl Med. 2020 Jun 10;12(547):eaaz3267. doi: 10.1126/scitranslmed.aaz3267.
Sci Transl Med. 2020.
PMID: 32522805
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FUS-mediated regulation of acetylcholine receptor transcription at neuromuscular junctions is compromised in amyotrophic lateral sclerosis.
Picchiarelli G, Demestre M, Zuko A, Been M, Higelin J, Dieterlé S, Goy MA, Mallik M, Sellier C, Scekic-Zahirovic J, Zhang L, Rosenbohm A, Sijlmans C, Aly A, Mersmann S, Sanjuan-Ruiz I, Hübers A, Messaddeq N, Wagner M, van Bakel N, Boutillier AL, Ludolph A, Lagier-Tourenne C, Boeckers TM, Dupuis L, Storkebaum E.
Picchiarelli G, et al. Among authors: higelin j.
Nat Neurosci. 2019 Nov;22(11):1793-1805. doi: 10.1038/s41593-019-0498-9. Epub 2019 Oct 7.
Nat Neurosci. 2019.
PMID: 31591561
Free PMC article.
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Retinoic acid worsens ATG10-dependent autophagy impairment in TBK1-mutant hiPSC-derived motoneurons through SQSTM1/p62 accumulation.
Catanese A, Olde Heuvel F, Mulaw M, Demestre M, Higelin J, Barbi G, Freischmidt A, Weishaupt JH, Ludolph AC, Roselli F, Boeckers TM.
Catanese A, et al. Among authors: higelin j.
Autophagy. 2019 Oct;15(10):1719-1737. doi: 10.1080/15548627.2019.1589257. Epub 2019 Apr 2.
Autophagy. 2019.
PMID: 30939964
Free PMC article.
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ALS-causing mutations differentially affect PGC-1α expression and function in the brain vs. peripheral tissues.
Bayer H, Lang K, Buck E, Higelin J, Barteczko L, Pasquarelli N, Sprissler J, Lucas T, Holzmann K, Demestre M, Lindenberg KS, Danzer KM, Boeckers T, Ludolph AC, Dupuis L, Weydt P, Witting A.
Bayer H, et al. Among authors: higelin j.
Neurobiol Dis. 2017 Jan;97(Pt A):36-45. doi: 10.1016/j.nbd.2016.11.001. Epub 2016 Nov 3.
Neurobiol Dis. 2017.
PMID: 27818323
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Synaptic FUS Localization During Motoneuron Development and Its Accumulation in Human ALS Synapses.
Deshpande D, Higelin J, Schoen M, Vomhof T, Boeckers TM, Demestre M, Michaelis J.
Deshpande D, et al. Among authors: higelin j.
Front Cell Neurosci. 2019 Jun 12;13:256. doi: 10.3389/fncel.2019.00256. eCollection 2019.
Front Cell Neurosci. 2019.
PMID: 31244613
Free PMC article.
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FUS Mislocalization and Vulnerability to DNA Damage in ALS Patients Derived hiPSCs and Aging Motoneurons.
Higelin J, Demestre M, Putz S, Delling JP, Jacob C, Lutz AK, Bausinger J, Huber AK, Klingenstein M, Barbi G, Speit G, Huebers A, Weishaupt JH, Hermann A, Liebau S, Ludolph AC, Boeckers TM.
Higelin J, et al.
Front Cell Neurosci. 2016 Dec 26;10:290. doi: 10.3389/fncel.2016.00290. eCollection 2016.
Front Cell Neurosci. 2016.
PMID: 28082870
Free PMC article.
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