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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: grosjean i. 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.
Autophagopathies: from autophagy gene polymorphisms to precision medicine for human diseases.
Grosjean I, Roméo B, Domdom MA, Belaid A, D'Andréa G, Guillot N, Gherardi RK, Gal J, Milano G, Marquette CH, Hung RJ, Landi MT, Han Y, Brest P, Von Bergen M, Klionsky DJ, Amos CI, Hofman P, Mograbi B. Grosjean I, et al. Autophagy. 2022 Nov;18(11):2519-2536. doi: 10.1080/15548627.2022.2039994. Epub 2022 Apr 6. Autophagy. 2022. PMID: 35383530 Free PMC article.
Identification of an agrin mutation that causes congenital myasthenia and affects synapse function.
Huzé C, Bauché S, Richard P, Chevessier F, Goillot E, Gaudon K, Ben Ammar A, Chaboud A, Grosjean I, Lecuyer HA, Bernard V, Rouche A, Alexandri N, Kuntzer T, Fardeau M, Fournier E, Brancaccio A, Rüegg MA, Koenig J, Eymard B, Schaeffer L, Hantaï D. Huzé C, et al. Among authors: grosjean i. Am J Hum Genet. 2009 Aug;85(2):155-67. doi: 10.1016/j.ajhg.2009.06.015. Epub 2009 Jul 23. Am J Hum Genet. 2009. PMID: 19631309 Free PMC article.
24 results