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Page 1
Overview of the Complex Relationship between Epigenetics Markers, CTG Repeat Instability and Symptoms in Myotonic Dystrophy Type 1.
Int J Mol Sci. 2022 Mar 23;23(7):3477. doi: 10.3390/ijms23073477.
Int J Mol Sci. 2022.
PMID: 35408837
Free PMC article.
Review.
Identification of a CCG-Enriched Expanded Allele in Patients with Myotonic Dystrophy Type 1 Using Amplification-Free Long-Read Sequencing.
Tsai YC, de Pontual L, Heiner C, Stojkovic T, Furling D, Bassez G, Gourdon G, Tomé S.
Tsai YC, et al. Among authors: de pontual l.
J Mol Diagn. 2022 Nov;24(11):1143-1154. doi: 10.1016/j.jmoldx.2022.08.003. Epub 2022 Sep 7.
J Mol Diagn. 2022.
PMID: 36084803
Free article.
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[Identification of new factors inducing CTG.CAG repeat contractions in Myotonic Dystrophy type 1].
de Pontual L, Gourdon G, Tomé S.
de Pontual L, et al.
Med Sci (Paris). 2021 Nov;37 Hors série n° 1:6-10. doi: 10.1051/medsci/2021182. Epub 2021 Dec 8.
Med Sci (Paris). 2021.
PMID: 34878385
Free article.
French.
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Robust Detection of Somatic Mosaicism and Repeat Interruptions by Long-Read Targeted Sequencing in Myotonic Dystrophy Type 1.
Mangin A, de Pontual L, Tsai YC, Monteil L, Nizon M, Boisseau P, Mercier S, Ziegle J, Harting J, Heiner C, Gourdon G, Tomé S.
Mangin A, et al. Among authors: de pontual l.
Int J Mol Sci. 2021 Mar 5;22(5):2616. doi: 10.3390/ijms22052616.
Int J Mol Sci. 2021.
PMID: 33807660
Free PMC article.
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