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Year Number of Results
1996 1
1997 1
2014 2
2015 3
2016 1
2017 1
2018 4
2019 4
2020 4
2021 1
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Page 1
Live-imaging of revertant and therapeutically restored dystrophin in the DmdEGFP-mdx mouse model for Duchenne muscular dystrophy.
Petkova MV, Stantzou A, Morin A, Petrova O, Morales-Gonzalez S, Seifert F, Bellec-Dyevre J, Manoliu T, Goyenvalle A, Garcia L, Richard I, Laplace-Builhé C, Schuelke M, Amthor H. Petkova MV, et al. Among authors: morales gonzalez s. Neuropathol Appl Neurobiol. 2020 Oct;46(6):602-614. doi: 10.1111/nan.12639. Epub 2020 Jul 27. Neuropathol Appl Neurobiol. 2020. PMID: 32573804
A spontaneous missense mutation in the chromodomain helicase DNA-binding protein 8 (CHD8) gene: a novel association with congenital myasthenic syndrome.
Lee CY, Petkova M, Morales-Gonzalez S, Gimber N, Schmoranzer J, Meisel A, Böhmerle W, Stenzel W, Schuelke M, Schwarz JM. Lee CY, et al. Among authors: morales gonzalez s. Neuropathol Appl Neurobiol. 2020 Oct;46(6):588-601. doi: 10.1111/nan.12617. Epub 2020 May 7. Neuropathol Appl Neurobiol. 2020. PMID: 32267004
Aicardi-Goutières syndrome with muscle involvement in early infancy.
Deigendesch N, Morales-Gonzalez S, Weschke B, Goebel HH, Schuelke M, Stenzel W. Deigendesch N, et al. Among authors: morales gonzalez s. Neuropathol Appl Neurobiol. 2018 Dec;44(7):737-742. doi: 10.1111/nan.12454. Neuropathol Appl Neurobiol. 2018. PMID: 29210089 No abstract available.
Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis.
Gusic M, Schottmann G, Feichtinger RG, Du C, Scholz C, Wagner M, Mayr JA, Lee CY, Yépez VA, Lorenz N, Morales-Gonzalez S, Panneman DM, Rötig A, Rodenburg RJT, Wortmann SB, Prokisch H, Schuelke M. Gusic M, et al. Among authors: morales gonzalez s. Am J Hum Genet. 2020 Jan 2;106(1):102-111. doi: 10.1016/j.ajhg.2019.12.005. Epub 2019 Dec 26. Am J Hum Genet. 2020. PMID: 31883641 Free PMC article.
Blockade of ActRIIB signaling triggers muscle fatigability and metabolic myopathy.
Relizani K, Mouisel E, Giannesini B, Hourdé C, Patel K, Morales Gonzalez S, Jülich K, Vignaud A, Piétri-Rouxel F, Fortin D, Garcia L, Blot S, Ritvos O, Bendahan D, Ferry A, Ventura-Clapier R, Schuelke M, Amthor H. Relizani K, et al. Among authors: morales gonzalez s. Mol Ther. 2014 Aug;22(8):1423-1433. doi: 10.1038/mt.2014.90. Epub 2014 May 27. Mol Ther. 2014. PMID: 24861054 Free PMC article.
Recessive truncating IGHMBP2 mutations presenting as axonal sensorimotor neuropathy.
Schottmann G, Jungbluth H, Schara U, Knierim E, Morales Gonzalez S, Gill E, Seifert F, Norwood F, Deshpande C, von Au K, Schuelke M, Senderek J. Schottmann G, et al. Among authors: morales gonzalez s. Neurology. 2015 Feb 3;84(5):523-31. doi: 10.1212/WNL.0000000000001220. Epub 2015 Jan 7. Neurology. 2015. PMID: 25568292
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