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Page 1
New recessive mutations in SYT2 causing severe presynaptic congenital myasthenic syndromes.
Bauché S, Sureau A, Sternberg D, Rendu J, Buon C, Messéant J, Boëx M, Furling D, Fauré J, Latypova X, Gelot AB, Mayer M, Mary P, Whalen S, Fournier E, Cloix I, Remerand G, Laffargue F, Nougues MC, Fontaine B, Eymard B, Isapof A, Strochlic L. Bauché S, et al. Among authors: furling d. Neurol Genet. 2020 Dec 3;6(6):e534. doi: 10.1212/NXG.0000000000000534. eCollection 2020 Dec. Neurol Genet. 2020. PMID: 33659639 Free PMC article.
Development and Validation of a New Scoring System to Predict Survival in Patients With Myotonic Dystrophy Type 1.
Wahbi K, Porcher R, Laforêt P, Fayssoil A, Bécane HM, Lazarus A, Sochala M, Stojkovic T, Béhin A, Leonard-Louis S, Arnaud P, Furling D, Probst V, Babuty D, Pellieux S, Clementy N, Bassez G, Péréon Y, Eymard B, Duboc D. Wahbi K, et al. Among authors: furling d. JAMA Neurol. 2018 May 1;75(5):573-581. doi: 10.1001/jamaneurol.2017.4778. JAMA Neurol. 2018. PMID: 29404559 Free PMC article.
Cells of Matter-In Vitro Models for Myotonic Dystrophy.
Matloka M, Klein AF, Rau F, Furling D. Matloka M, et al. Among authors: furling d. Front Neurol. 2018 May 23;9:361. doi: 10.3389/fneur.2018.00361. eCollection 2018. Front Neurol. 2018. PMID: 29875732 Free PMC article. Review.
High Risk of Fatal and Nonfatal Venous Thromboembolism in Myotonic Dystrophy.
Sochala M, Porcher R, Stojkovic T, Bécane HM, Béhin A, Laforêt P, Bassez G, Leonard-Louis S, Eymard B, Furling D, Duboc D, Wahbi K. Sochala M, et al. Among authors: furling d. Circulation. 2018 Sep 11;138(11):1169-1171. doi: 10.1161/CIRCULATIONAHA.118.035035. Circulation. 2018. PMID: 30354391 No abstract available.
Reversal of RNA toxicity in myotonic dystrophy via a decoy RNA-binding protein with high affinity for expanded CUG repeats.
Arandel L, Matloka M, Klein AF, Rau F, Sureau A, Ney M, Cordier A, Kondili M, Polay-Espinoza M, Naouar N, Ferry A, Lemaitre M, Begard S, Colin M, Lamarre C, Tran H, Buée L, Marie J, Sergeant N, Furling D. Arandel L, et al. Among authors: furling d. Nat Biomed Eng. 2022 Feb;6(2):207-220. doi: 10.1038/s41551-021-00838-2. Epub 2022 Feb 10. Nat Biomed Eng. 2022. PMID: 35145256
94 results