Publications
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, “R1617Q epilepsy mutation slows Na 1.6 sodium channel inactivation and increases the persistent current and neuronal firing.”, J Physiol, vol. 599, no. 5, pp. 1651-1664, 2021.
, “FUS contributes to mTOR-dependent inhibition of translation.”, J Biol Chem, vol. 295, no. 52, pp. 18459-18473, 2020.
, “Peripheral adaptive immunity of the triple transgenic mouse model of Alzheimer's disease.”, J Neuroinflammation, vol. 16, no. 1, p. 3, 2019.
, “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, pp. 9700-9711, 2018.
, “The methyltransferase SETDB1 regulates a large neuron-specific topological chromatin domain.”, Nat Genet, vol. 49, no. 8, pp. 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, pp. 2305-2316, 2017.
, “A recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis.”, Neurology, vol. 86, no. 2, pp. 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, pp. 1937-45, 2014.
, “Fluoxetine blocks Nav1.5 channels via a mechanism similar to that of class 1 antiarrhythmics.”, Mol Pharmacol, vol. 86, no. 4, pp. 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, pp. 546-56, 2014.
, “IVIg protects the 3xTg-AD mouse model of Alzheimer's disease from memory deficit and Aβ pathology.”, J Neuroinflammation, vol. 11, p. 54, 2014.
, “Mutant huntingtin is present in neuronal grafts in Huntington disease patients.”, Ann Neurol, vol. 76, no. 1, pp. 31-42, 2014.
, “Nav 1.5 mutations linked to dilated cardiomyopathy phenotypes: Is the gating pore current the missing link?”, Channels (Austin), vol. 8, no. 1, pp. 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, pp. 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, pp. 1039-44, 2014.
, “Giant axonal neuropathy-associated gigaxonin mutations impair intermediate filament protein degradation.”, J Clin Invest, vol. 123, no. 5, pp. 1964-75, 2013.
, “Neuroprotection through excitability and mTOR required in ALS motoneurons to delay disease and extend survival.”, Neuron, vol. 80, no. 1, pp. 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, pp. 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, pp. 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, pp. 1194-203, 2012.
, “Progranulin: a proteolytically processed protein at the crossroads of inflammation and neurodegeneration.”, J Biol Chem, vol. 287, no. 39, pp. 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, pp. 738-45, 2012.
, “Lmx1a and lmx1b function cooperatively to regulate proliferation, specification, and differentiation of midbrain dopaminergic progenitors.”, J Neurosci, vol. 31, no. 35, pp. 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, pp. 175-80, 2011.
