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Page 1
Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome.
Genet Med. 2022 Jun;24(6):1283-1296. doi: 10.1016/j.gim.2022.02.014. Epub 2022 Mar 26.
Genet Med. 2022.
PMID: 35346573
Free article.
Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND).
Vera G, Sorlin A, Delplancq G, Lecoquierre F, Brasseur-Daudruy M, Petit F, Smol T, Ziegler A, Bonneau D, Colin E, Mercier S, Cogné B, Bézieau S, Edery P, Lesca G, Chatron N, Sabatier I, Duban-Bedu B, Colson C, Piton A, Durand B, Capri Y, Perrin L, Wiesener A, Zweier C, Maroofian R, Carroll CJ, Galehdari H, Mazaheri N, Callewaert B, Giulianno F, Zaafrane-Khachnaoui K, Buchert-Lo R, Haack T, Magg J, Rieß A, Blandfort M, Waldmüller S, Horber V, Leonardi E, Polli R, Turolla L, Murgia A, Frebourg T, Lebre AS, Nicolas G, Saugier-Veber P, Guerrot AM.
Vera G, et al. Among authors: magg j.
Eur J Med Genet. 2020 Oct;63(10):104004. doi: 10.1016/j.ejmg.2020.104004. Epub 2020 Jul 17.
Eur J Med Genet. 2020.
PMID: 32688057
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Olesoxime suppresses calpain activation and mutant huntingtin fragmentation in the BACHD rat.
Clemens LE, Weber JJ, Wlodkowski TT, Yu-Taeger L, Michaud M, Calaminus C, Eckert SH, Gaca J, Weiss A, Magg JC, Jansson EK, Eckert GP, Pichler BJ, Bordet T, Pruss RM, Riess O, Nguyen HP.
Clemens LE, et al. Among authors: magg jc.
Brain. 2015 Dec;138(Pt 12):3632-53. doi: 10.1093/brain/awv290. Epub 2015 Oct 21.
Brain. 2015.
PMID: 26490331
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Unilateral Hearing Loss Due to Cochlear Nerve Involvement as Isolated Symptom of a Primary Medulloblastoma.
Magg J, Nägele T, Alber M, Weichselbaum A, Ebinger M, Schuhmann MU.
Magg J, et al.
Neuropediatrics. 2020 Apr;51(2):170-172. doi: 10.1055/s-0039-3399528. Epub 2019 Nov 7.
Neuropediatrics. 2020.
PMID: 31698482
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Intranasal Administration of Mesenchymal Stem Cells Ameliorates the Abnormal Dopamine Transmission System and Inflammatory Reaction in the R6/2 Mouse Model of Huntington Disease.
Yu-Taeger L, Stricker-Shaver J, Arnold K, Bambynek-Dziuk P, Novati A, Singer E, Lourhmati A, Fabian C, Magg J, Riess O, Schwab M, Stolzing A, Danielyan L, Nguyen HHP.
Yu-Taeger L, et al. Among authors: magg j.
Cells. 2019 Jun 15;8(6):595. doi: 10.3390/cells8060595.
Cells. 2019.
PMID: 31208073
Free PMC article.
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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: magg jcd.
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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Gene expression changes in a transgenic mouse model overexpressing human wildtype and mutant torsinA.
Grundmann K, Hübener J, Häbig K, Reischmann B, Poths S, Hauser TK, Magg J, Riess O, Bonin M, Nguyen HP.
Grundmann K, et al. Among authors: magg j.
Proteomics Clin Appl. 2008 May;2(5):720-36. doi: 10.1002/prca.200780053.
Proteomics Clin Appl. 2008.
PMID: 21136869
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