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Molecular, physiological, and motor performance defects in DMSXL mice carrying >1,000 CTG repeats from the human DM1 locus.
Huguet A, Medja F, Nicole A, Vignaud A, Guiraud-Dogan C, Ferry A, Decostre V, Hogrel JY, Metzger F, Hoeflich A, Baraibar M, Gomes-Pereira M, Puymirat J, Bassez G, Furling D, Munnich A, Gourdon G. Huguet A, et al. Among authors: bassez g. PLoS Genet. 2012;8(11):e1003043. doi: 10.1371/journal.pgen.1003043. Epub 2012 Nov 29. PLoS Genet. 2012. PMID: 23209425 Free PMC article.
Diagnostic yield of a practical electrodiagnostic protocol discriminating between different congenital myasthenic syndromes.
Stojkovic T, Masingue M, Turmel H, Hezode-Arzel M, Béhin A, Leonard-Louis S, Bassez G, Bauché S, Blondy P, Richard P, Sternberg D, Eymard B, Fournier E, Villar-Quiles RN. Stojkovic T, et al. Among authors: bassez g. Neuromuscul Disord. 2022 Dec;32(11-12):870-878. doi: 10.1016/j.nmd.2022.10.001. Epub 2022 Oct 9. Neuromuscul Disord. 2022. PMID: 36522822
Histopathological differences of myotonic dystrophy type 1 (DM1) and PROMM/DM2.
Vihola A, Bassez G, Meola G, Zhang S, Haapasalo H, Paetau A, Mancinelli E, Rouche A, Hogrel JY, Laforêt P, Maisonobe T, Pellissier JF, Krahe R, Eymard B, Udd B. Vihola A, et al. Among authors: bassez g. Neurology. 2003 Jun 10;60(11):1854-7. doi: 10.1212/01.wnl.0000065898.61358.09. Neurology. 2003. PMID: 12796551 Free article.
Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy.
Fugier C, Klein AF, Hammer C, Vassilopoulos S, Ivarsson Y, Toussaint A, Tosch V, Vignaud A, Ferry A, Messaddeq N, Kokunai Y, Tsuburaya R, de la Grange P, Dembele D, Francois V, Precigout G, Boulade-Ladame C, Hummel MC, Lopez de Munain A, Sergeant N, Laquerrière A, Thibault C, Deryckere F, Auboeuf D, Garcia L, Zimmermann P, Udd B, Schoser B, Takahashi MP, Nishino I, Bassez G, Laporte J, Furling D, Charlet-Berguerand N. Fugier C, et al. Among authors: bassez g. Nat Med. 2011 Jun;17(6):720-5. doi: 10.1038/nm.2374. Epub 2011 May 29. Nat Med. 2011. PMID: 21623381
Myotonic dystrophy CTG expansion affects synaptic vesicle proteins, neurotransmission and mouse behaviour.
Hernández-Hernández O, Guiraud-Dogan C, Sicot G, Huguet A, Luilier S, Steidl E, Saenger S, Marciniak E, Obriot H, Chevarin C, Nicole A, Revillod L, Charizanis K, Lee KY, Suzuki Y, Kimura T, Matsuura T, Cisneros B, Swanson MS, Trovero F, Buisson B, Bizot JC, Hamon M, Humez S, Bassez G, Metzger F, Buée L, Munnich A, Sergeant N, Gourdon G, Gomes-Pereira M. Hernández-Hernández O, et al. Among authors: bassez g. Brain. 2013 Mar;136(Pt 3):957-70. doi: 10.1093/brain/aws367. Epub 2013 Feb 11. Brain. 2013. PMID: 23404338 Free PMC article.
In Vitro and In Vivo Modulation of Alternative Splicing by the Biguanide Metformin.
Laustriat D, Gide J, Barrault L, Chautard E, Benoit C, Auboeuf D, Boland A, Battail C, Artiguenave F, Deleuze JF, Bénit P, Rustin P, Franc S, Charpentier G, Furling D, Bassez G, Nissan X, Martinat C, Peschanski M, Baghdoyan S. Laustriat D, et al. Among authors: bassez g. Mol Ther Nucleic Acids. 2015 Nov 3;4(11):e262. doi: 10.1038/mtna.2015.35. Mol Ther Nucleic Acids. 2015. PMID: 26528939 Free PMC article.
120 results