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Publications scientifiques de Jack Puymirat

Tremblay JP, Xiao X, Aartsma-Rus A, Barbas C, Blau HM, Bogdanove AJ, Boycott K, Braun S, Breakefield XO, Bueren JA, Buschmann M, Byrne BJ, Calos M, Cathomen T, Chamberlain J, Chuah M, Cornetta K, Davies KE, Dickson JG, Duchateau P, Flotte TR, Gaudet D, Gersbach CA, Gilbert R, Glorioso J, Herzog RW, High KA, Huang W, Huard J, Joung JK, Liu D, Lochmuller H, Lustig L, Martens J, Massie B, Mavilio F, Mendell JR, Nathwani A, Ponder K, Porteus M, Puymirat J, Samulski J, Takeda S, Thrasher A, Vandendriessche T, Wei Y, Wilson JM, Wilton SD, Wolfe JH, Gao G. Translating the genomics revolution: the need for an international gene therapy consortium for monogenic diseases. Molecular therapy : the journal of the American Society of Gene Therapy, 2013. 21: 266-8

Zhao J, Dupre N, Puymirat J, Chahine M. Biophysical characterization of M1476I, a sodium channel founder mutation associated with cold-induced myotonia in French Canadians. The Journal of physiology, 2012. 590: 2629-44

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. Molecular, Physiological, and Motor Performance Defects in DMSXL Mice Carrying >1,000 CTG Repeats from the Human DM1 Locus. PLoS genetics, 2012. 8: e1003043

Puymirat J, Bouchard JP, Mathieu J. Efficacy and Tolerability of a 20-mg Dose of Methylphenidate for the Treatment of Daytime Sleepiness in Adult Patients With Myotonic Dystrophy Type 1: A 2-Center, Randomized, Double-Blind, Placebo-Controlled, 3-Week Crossover Trial. Clinical therapeutics, 2012. 34: 1103-11

Hiba B, Richard N, Hebert LJ, Cote C, Nejjari M, Vial C, Bouhour F, Puymirat J, Janier M. Quantitative assessment of skeletal muscle degeneration in patients with myotonic dystrophy type 1 using MRI. Journal of magnetic resonance imaging : JMRI, 2012. 35: 678-85

Beaulieu D, Thebault P, Pelletier R, Chapdelaine P, Tarnopolsky M, Furling D, Puymirat J. Abnormal prostaglandin E2 production blocks myogenic differentiation in myotonic dystrophy. Neurobiology of disease, 2012. 45: 122-9

Bassez G, Puymirat J. Registres des dystrophies myotoniques : une collaboration franco-québécoise Les Cahiers de Myologie, 2011. 16: 17-18

Cote C, Hiba B, Hebert LJ, Vial C, Remec JF, Janier M, Puymirat J. MRI of tibialis anterior skeletal muscle in myotonic dystrophy type 1. The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques, 2011. 38: 112-8

Levesque E, Leclerc D, Puymirat J, Knoppers BM. Developing registries of volunteers: key principles to manage issues regarding personal information protection. Journal of medical ethics, 2010. 36: 712-4

Beffy P, Del Carratore R, Masini M, Furling D, Puymirat J, Masiello P, Simili M. Altered signal transduction pathways and induction of autophagy in human myotonic dystrophy type 1 myoblasts. The international journal of biochemistry & cell biology, 2010. 42: 1973-83

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