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Molecular Analysis of a Congenital Myasthenic Syndrome Due to a Pathogenic Variant Affecting the C-Terminus of ColQ.
Int J Mol Sci. 2023 Nov 11;24(22):16217. doi: 10.3390/ijms242216217.
Int J Mol Sci. 2023.
PMID: 38003406
Free PMC article.
Severe congenital myasthenic syndromes caused by agrin mutations affecting secretion by motoneurons.
Jacquier A, Risson V, Simonet T, Roussange F, Lacoste N, Ribault S, Carras J, Theuriet J, Girard E, Grosjean I, Le Goff L, Kröger S, Meltoranta J, Bauché S, Sternberg D, Fournier E, Kostera-Pruszczyk A, O'Connor E, Eymard B, Lochmüller H, Martinat C, Schaeffer L.
Jacquier A, et al. Among authors: roussange f.
Acta Neuropathol. 2022 Oct;144(4):707-731. doi: 10.1007/s00401-022-02475-8. Epub 2022 Aug 10.
Acta Neuropathol. 2022.
PMID: 35948834
Free PMC article.
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Optogenetically controlled human functional motor endplate for testing botulinum neurotoxins.
de Lamotte JD, Polentes J, Roussange F, Lesueur L, Feurgard P, Perrier A, Nicoleau C, Martinat C.
de Lamotte JD, et al. Among authors: roussange f.
Stem Cell Res Ther. 2021 Dec 5;12(1):599. doi: 10.1186/s13287-021-02665-3.
Stem Cell Res Ther. 2021.
PMID: 34865655
Free PMC article.
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