Publications
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Filtres: Keyword is Phenotype [Enlever les filtres]
, « -related epilepsy of infancy with migrating focal seizures: report of a variant with apparent gain- and loss-of-function effects. », J Neurophysiol, vol. 127, nᵒ 5, p. 1388-1397, 2022.
, « Nav 1.5 mutations linked to dilated cardiomyopathy phenotypes: Is the gating pore current the missing link? », Channels (Austin), vol. 8, nᵒ 1, p. 90-4, 2014.
, « Overlap of food addiction and substance use disorders definitions: analysis of animal and human studies. », Neuropharmacology, vol. 85, p. 81-90, 2014.
, « A proton leak current through the cardiac sodium channel is linked to mixed arrhythmia and the dilated cardiomyopathy phenotype. », PLoS One, vol. 7, nᵒ 5, p. e38331, 2012.
, « Gigaxonin mutation analysis in patients with NIFID. », Neurobiol Aging, vol. 32, nᵒ 8, p. 1528-9, 2011.
, « Y1767C, a novel SCN5A mutation, induces a persistent Na+ current and potentiates ranolazine inhibition of Nav1.5 channels. », Am J Physiol Heart Circ Physiol, vol. 300, nᵒ 1, p. H288-99, 2011.
, « Association with replication between estrogen-related receptor gamma (ESRRgamma) polymorphisms and bone phenotypes in women of European ancestry. », J Bone Miner Res, vol. 25, nᵒ 4, p. 901-11, 2010.
, « Chromosome 13q13-q14 locus overlaps mood and psychotic disorders: the relevance for redefining phenotype. », Eur J Hum Genet, vol. 17, nᵒ 8, p. 1034-42, 2009.
, « Shared neurocognitive dysfunctions in young offspring at extreme risk for schizophrenia or bipolar disorder in eastern quebec multigenerational families. », Schizophr Bull, vol. 35, nᵒ 5, p. 919-30, 2009.
, « Ablation of proliferating microglia does not affect motor neuron degeneration in amyotrophic lateral sclerosis caused by mutant superoxide dismutase. », J Neurosci, vol. 28, nᵒ 41, p. 10234-44, 2008.
, « Decomposing the autism phenotype into familial dimensions. », Am J Med Genet B Neuropsychiatr Genet, vol. 147B, nᵒ 1, p. 3-9, 2008.
, « Gene-environment interaction and behavioral disorders: a developmental perspective based on endophenotypes. », Novartis Found Symp, vol. 293, p. 31-41; discussion 41-7, 68-70, 2008.
, « L-Dopa treatment abolishes the numerical increase in striatal dopaminergic neurons in parkinsonian monkeys. », J Chem Neuroanat, vol. 35, nᵒ 1, p. 77-84, 2008.
, « Modest loss of peripheral axons, muscle atrophy and formation of brain inclusions in mice with targeted deletion of gigaxonin exon 1. », J Neurochem, vol. 107, nᵒ 1, p. 253-64, 2008.
, « Using disease symptoms to improve detection of linkage under genetic heterogeneity. », Genet Epidemiol, vol. 32, nᵒ 5, p. 476-86, 2008.
, « Dopaminergic neurons intrinsic to the striatum. », J Neurochem, vol. 101, nᵒ 6, p. 1441-7, 2007.
, « Informative phenotypes for genetic studies of psychiatric disorders. », Am J Med Genet B Neuropsychiatr Genet, vol. 144B, nᵒ 5, p. 581-8, 2007.
, « Identifying SNPs predictive of phenotype using random forests. », Genet Epidemiol, vol. 28, nᵒ 2, p. 171-82, 2005.
, « Neurochemical characterization of dopaminergic neurons in human striatum. », Parkinsonism Relat Disord, vol. 11, nᵒ 5, p. 277-86, 2005.
, « Neuronal fate determinants of adult olfactory bulb neurogenesis. », Nat Neurosci, vol. 8, nᵒ 7, p. 865-72, 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.
, « Electrophysiologic and phenotypic features of an autosomal cone-rod dystrophy caused by a novel CRX mutation. », Ophthalmology, vol. 109, nᵒ 10, p. 1862-70, 2002.
, « 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.
