Publications
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Filtres: Keyword is Mutation [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.
, « R1617Q epilepsy mutation slows Na 1.6 sodium channel inactivation and increases the persistent current and neuronal firing. », J Physiol, vol. 599, nᵒ 5, p. 1651-1664, 2021.
, « FUS contributes to mTOR-dependent inhibition of translation. », J Biol Chem, vol. 295, nᵒ 52, p. 18459-18473, 2020.
, « Parkinson's Disease-Linked LRRK2-G2019S Mutation Alters Synaptic Plasticity and Promotes Resilience to Chronic Social Stress in Young Adulthood. », J Neurosci, vol. 38, nᵒ 45, p. 9700-9711, 2018.
, « The methyltransferase SETDB1 regulates a large neuron-specific topological chromatin domain. », Nat Genet, vol. 49, nᵒ 8, p. 1239-1250, 2017.
, « Survival of a Novel Subset of Midbrain Dopaminergic Neurons Projecting to the Lateral Septum Is Dependent on NeuroD Proteins. », J Neurosci, vol. 37, nᵒ 9, p. 2305-2316, 2017.
, « A recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis. », Neurology, vol. 86, nᵒ 2, p. 161-9, 2016.
, « Early retinal neurodegeneration and impaired Ran-mediated nuclear import of TDP-43 in progranulin-deficient FTLD. », J Exp Med, vol. 211, nᵒ 10, p. 1937-45, 2014.
, « Fluoxetine blocks Nav1.5 channels via a mechanism similar to that of class 1 antiarrhythmics. », Mol Pharmacol, vol. 86, nᵒ 4, p. 378-89, 2014.
, « The human CFTR protein expressed in CHO cells activates aquaporin-3 in a cAMP-dependent pathway: study by digital holographic microscopy. », J Cell Sci, vol. 127, nᵒ Pt 3, p. 546-56, 2014.
, « 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.
, « The variant hERG/R148W associated with LQTS is a mutation that reduces current density on co-expression with the WT. », Gene, vol. 536, nᵒ 2, p. 348-56, 2014.
, « Whole exome sequencing of distant relatives in multiplex families implicates rare variants in candidate genes for oral clefts. », Genetics, vol. 197, nᵒ 3, p. 1039-44, 2014.
, « Giant axonal neuropathy-associated gigaxonin mutations impair intermediate filament protein degradation. », J Clin Invest, vol. 123, nᵒ 5, p. 1964-75, 2013.
, « Neuroprotection through excitability and mTOR required in ALS motoneurons to delay disease and extend survival. », Neuron, vol. 80, nᵒ 1, p. 80-96, 2013.
, « Gating pore currents and the resting state of Nav1.4 voltage sensor domains. », Proc Natl Acad Sci U S A, vol. 109, nᵒ 47, p. 19250-5, 2012.
, « Localization of a toxic form of superoxide dismutase 1 protein to pathologically affected tissues in familial ALS. », Proc Natl Acad Sci U S A, vol. 109, nᵒ 14, p. 5505-10, 2012.
, « Normal role of the low-molecular-weight neurofilament protein in mitochondrial dynamics and disruption in Charcot-Marie-Tooth disease. », FASEB J, vol. 26, nᵒ 3, p. 1194-203, 2012.
, « Progranulin: a proteolytically processed protein at the crossroads of inflammation and neurodegeneration. », J Biol Chem, vol. 287, nᵒ 39, p. 32298-306, 2012.
, « 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.
, « VAMP4 directs synaptic vesicles to a pool that selectively maintains asynchronous neurotransmission. », Nat Neurosci, vol. 15, nᵒ 5, p. 738-45, 2012.
, « Lmx1a and lmx1b function cooperatively to regulate proliferation, specification, and differentiation of midbrain dopaminergic progenitors. », J Neurosci, vol. 31, nᵒ 35, p. 12413-25, 2011.
, « Sensorimotor and cognitive function of a NEFL(P22S) mutant model of Charcot-Marie-Tooth disease type 2E. », Behav Brain Res, vol. 219, nᵒ 2, p. 175-80, 2011.
, « TDP-43 is directed to stress granules by sorbitol, a novel physiological osmotic and oxidative stressor. », Mol Cell Biol, vol. 31, nᵒ 5, p. 1098-108, 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.
