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The FLNC Ala1186Val Variant Linked to Cytoplasmic Body Myopathy and Cardiomyopathy Causes Protein Instability.
Biomedicines. 2024 Jan 30;12(2):322. doi: 10.3390/biomedicines12020322.
Biomedicines. 2024.
PMID: 38397924
Free PMC article.
Idiopathic pulmonary fibrosis with benign SFTPC variant and pathogenic MARS1 mutations: can't see the forest for the trees!
Castaldo A, Delestrain C, Diesler R, Merveilleux du Vignaux C, Onnee M, Touraine R, Chalabreysse L, Fanen P, Epaud R, Cottin V, De Becdelièvre A.
Castaldo A, et al. Among authors: onnee m.
ERJ Open Res. 2023 Nov 6;9(6):00472-2023. doi: 10.1183/23120541.00472-2023. eCollection 2023 Nov.
ERJ Open Res. 2023.
PMID: 37936900
Free PMC article.
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Instability of Mature ABCA3 Protein: Toward a New Classification of ABCA3 Mutations?
Onnée M, Duriez B, Simon S, Szczepaniak C, Guguin A, Epaud R, Hamouda S, Fanen P, de Becdelièvre A.
Onnée M, et al.
Am J Respir Cell Mol Biol. 2022 Nov;67(5):602-605. doi: 10.1165/rcmb.2021-0430LE.
Am J Respir Cell Mol Biol. 2022.
PMID: 36318016
No abstract available.
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Structure-Based Understanding of ABCA3 Variants.
Onnée M, Fanen P, Callebaut I, de Becdelièvre A.
Onnée M, et al.
Int J Mol Sci. 2021 Sep 24;22(19):10282. doi: 10.3390/ijms221910282.
Int J Mol Sci. 2021.
PMID: 34638622
Free PMC article.
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