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Page 1
Amlexanox: Readthrough Induction and Nonsense-Mediated mRNA Decay Inhibition in a Charcot-Marie-Tooth Model of hiPSCs-Derived Neuronal Cells Harboring a Nonsense Mutation in GDAP1 Gene.
Pharmaceuticals (Basel). 2023 Jul 21;16(7):1034. doi: 10.3390/ph16071034.
Pharmaceuticals (Basel). 2023.
PMID: 37513945
Free PMC article.
The First Large Deletion of ATL3 Identified in a Patient Presenting with a Sensory Polyneuropathy.
Pyromali I, Richard L, Derouault P, Vallat JM, Ghorab K, Magdelaine C, Sturtz F, Favreau F, Lia AS.
Pyromali I, et al.
Biomedicines. 2023 May 28;11(6):1565. doi: 10.3390/biomedicines11061565.
Biomedicines. 2023.
PMID: 37371660
Free PMC article.
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A mutation can hide another one: Think Structural Variants!
Miressi F, Faye PA, Pyromali I, Bourthoumieux S, Derouault P, Husson M, Favreau F, Sturtz F, Magdelaine C, Lia AS.
Miressi F, et al. Among authors: pyromali i.
Comput Struct Biotechnol J. 2020 Aug 2;18:2095-2099. doi: 10.1016/j.csbj.2020.07.021. eCollection 2020.
Comput Struct Biotechnol J. 2020.
PMID: 32832037
Free PMC article.
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From Negative to Positive Diagnosis: Structural Variation Could Be the Second Mutation You Are Looking for in a Recessive Autosomal Gene.
Pyromali I, Benslimane N, Favreau F, Goizet C, Lazaro L, Vitry M, Derouault P, Sturtz F, Magdelaine C, Lia AS.
Pyromali I, et al.
J Pers Med. 2022 Feb 3;12(2):212. doi: 10.3390/jpm12020212.
J Pers Med. 2022.
PMID: 35207700
Free PMC article.
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New structural variations responsible for Charcot-Marie-Tooth disease: The first two large KIF5A deletions detected by CovCopCan software.
Pyromali I, Perani A, Nizou A, Benslimane N, Derouault P, Bourthoumieu S, Fradin M, Sole G, Duval F, Gomes C, Favreau F, Sturtz F, Magdelaine C, Lia AS.
Pyromali I, et al.
Comput Struct Biotechnol J. 2021 Jul 30;19:4265-4272. doi: 10.1016/j.csbj.2021.07.037. eCollection 2021.
Comput Struct Biotechnol J. 2021.
PMID: 34429846
Free PMC article.
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