Search Results - "Puymirat, J"

Clinical characteristics of myotonic dystrophy type 1 patients with small CTG expansions by ARSENAULT, M.-E, PREVOST, C, LESCAULT, A, LABERGE, C, PUYMIRAT, J, MATHIEU, J

“…The authors report a genotype-phenotype correlation study in 102 patients with myotonic dystrophy type 1 carrying small CTG repeat expansions. Most patients…”
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Estimating Y Chromosome Specific Microsatellite Mutation Frequencies using Deep Rooting Pedigrees by Heyer, Evelyne, Puymirat, Jack, Dieltjes, Patrick, Bakker, Egbert, de Knijff, Peter

“…Recently, a set of highly polymorphic chromosome Y specific microsatellites became available for forensic, population genetic and evolutionary studies…”
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Viral vector producing antisense RNA restores myotonic dystrophy myoblast functions by FURLING, D, DOUCET, G, LANGLOIS, M-A, TIMCHENKO, L, BELANGER, E, COSSETTE, L, PUYMIRAT, J

“…Myotonic dystrophy (DM1) is caused by the expansion of a trinucleotide repeat (CTG) located in the 3'untranslated region of the myotonic dystrophy protein…”
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O.6 Antisense approach for myotonic dystrophy by Gourdon, G, Furling, D, Bassez, G, Puymirat, J

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P4.44 Methylphenidate reduces excessive daytime sleepiness in patients with myotonic dystrophy by Puymirat, J, Bouchard, J.P, Mathieu, J

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P.18.1 The DM-Scope registry: Interfacing myotonic dystrophy clinical care and research by Dogan, C, Hamroun, D, Katsahian, S, Fabbro, M, French, M, Quebec, M, Eymard, B, Puymirat, J, Bassez, G

“…Myotonic dystrophy (DM) is a highly variable multisystemic genetic disease and the commonest muscular dystrophy in adults. Such temporal and phenotypic…”
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P5.8 The Quebec myotonic dystrophy-based population registry by Cossette, L, Bouchard, J.P, Mathieu, J, Puymirat, J

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P4.29 Magnetic resonance identifies muscle wasting associated with fatty infiltration and loss of strength over an 18-month period in type 1 myotonic dystrophy by Larose, E, Côté, C, Hébert, L, Puymirat, J

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A novel founder SCN4A mutation causes painful cold-induced myotonia in French-Canadians by ROSSIGNOL, E, MATHIEU, J, THIFFAULT, I, TETREAULT, M, DICAIRE, M.-J, CHRESTIAN, N, DUPRE, N, PUYMIRAT, J, BRAIS, B

“…Myotonia is observed in classic congenital myotonia caused by CLCN1 mutations and in sodium-channel myotonia (SCM) due to SCN4A mutations. We assessed 66…”
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G.P.14.05 Quantitative isometric muscle strength at the ankle in myotonic dystrophy type 1 Patients: A discriminative biological marker by Hébert, L.J, Remec, J.F, Saulnier, J, Vial, C, Puymirat, J

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G.P.14.10 Inhibition of prostaglandin E2 (PGE2) production restores the differentiation of congenital human dystrophy myotonic type 1 (CDM1) myoblasts by Puymirat, J, Beaulieu, D, Chapdelaine, P, Furling, D

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Oligodendrocyte maturation and progenitor cell proliferation are independently regulated by thyroid hormone by Baas, Dominique, Bourbeau, Denis, Sarliéve, Louis L., Ittel, Marie-Elisabeth, Dussault, Jean H., Puymirat, Jack

“…The development of oligodendrocyte progenitor cells is regulated by epigenetic factors which control their proliferation and differentiation. When…”
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Immunocytochemical localization of seleno-glutathione peroxidase in the adult mouse brain by Trépanier, G, Furling, D, Puymirat, J, Mirault, M.-E

“…Cytoplasmic seleno-glutathione peroxidase, by reducing hydrogen peroxide and fatty acid hydroperoxides, may be a major protective enzyme against oxidative…”
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Intracellular ribozyme applications by Castanotto, D, Li, J R, Michienzi, A, Langlois, M-A, Lee, N S, Puymirat, J, Rossi, J J

“…The exquisite target selectivity of trans -acting ribozymes has fostered their use as potential therapeutic agents and tools for down-regulating cellular…”
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G.P.10.15 Genotype–phenotype correlation and identification of new mutations in non-dystrophic myotonias by Dupre, N, Chrestian, N, Brunet, D, Bouchard, J, Mathieu, J, Puymirat, J

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T.O.4 Ribozyme-based gene therapy reverses muscle atrophy in a mouse model of myotonic dystrophy by Doucet, G, Vignaud, A, Gourdon, G, Ferry, A, Furling, D, Puymirat, J

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Overexpression of the beta 1 thyroid receptor induces differentiation in neuro-2a cells by Lebel, J M, Dussault, J H, Puymirat, J

“…To determine the functions of the alpha 1 and beta 1 thyroid hormone receptors (TRs) in neural differentiation, we have established stable transfected neuronal…”
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Sibship stability of genotype and phenotype in myotonic dystrophy by Brisson, D, Tremblay, M, Prévost, C, Laberge, C, Puymirat, J, Mathieu, J

“…Myotonic dystrophy (DM1) is caused by an unstable CTG repeat expansion. Despite the evidence of birth order effect in congenital DM1, the expansion's dynamics…”
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Investigating neurological disorders in congenital myotonic dystrophy type 1 using 3-D forebrain organoids by De Serres-Bérard, T., Jauvin, D., Martineau, L., Chahine, M., Puymirat, J.

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Thyroid hormone receptors are necessary but not sufficient for transcription by Puymirat, J

“…Lopez-Barahona et al. report in this issue the differential regulation of beta-1 adrenergic receptor (β1-AR) gene expression by thyroid hormones in myocytes…”
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