Publications
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Filtres: Keyword is Syndrome [Enlever les filtres]
, « Monthly fluctuations of insomnia symptoms in a population-based sample. », Sleep, vol. 37, nᵒ 2, p. 319-26, 2014.
, « Incidence and risk factors of insomnia in a population-based sample. », Sleep, vol. 32, nᵒ 8, p. 1027-37, 2009.
, « Nav1.5/R1193Q polymorphism is associated with both long QT and Brugada syndromes. », Can J Cardiol, vol. 22, nᵒ 4, p. 309-13, 2006.
, « Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification. », Am J Hum Genet, vol. 77, nᵒ 3, p. 477-83, 2005.
, « Loss of function associated with novel mutations of the SCN5A gene in patients with Brugada syndrome. », Can J Cardiol, vol. 20, nᵒ 4, p. 425-30, 2004.
, « A novel syndrome of congenital lid and punctal anomalies, corneal and chorioretinal dystrophy. », Ophthalmic Genet, vol. 24, nᵒ 2, p. 111-6, 2003.
, « Expression and intracellular localization of an SCN5A double mutant R1232W/T1620M implicated in Brugada syndrome. », Circ Res, vol. 90, nᵒ 1, p. E11-6, 2002.
, « Novel mechanism for Brugada syndrome: defective surface localization of an SCN5A mutant (R1432G). », Circ Res, vol. 88, nᵒ 12, p. E78-83, 2001.
, « Biophysical phenotypes of SCN5A mutations causing long QT and Brugada syndromes. », FEBS Lett, vol. 487, nᵒ 2, p. 224-8, 2000.
, « Electrophysiological characterization of SCN5A mutations causing long QT (E1784K) and Brugada (R1512W and R1432G) syndromes. », Cardiovasc Res, vol. 46, nᵒ 1, p. 55-65, 2000.
, « SCN5A mutation (T1620M) causing Brugada syndrome exhibits different phenotypes when expressed in Xenopus oocytes and mammalian cells. », FEBS Lett, vol. 467, nᵒ 1, p. 12-6, 2000.
