Publications
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Filtres: Author is Chahine, Mohamed [Enlever les filtres]
, « Antisense oligonucleotides as a potential treatment for brain deficits observed in myotonic dystrophy type 1. », Gene Ther, 2022.
, « Genetic associations of protein-coding variants in human disease. », Nature, vol. 603, nᵒ 7899, p. 95-102, 2022.
, « NPRL2 Inhibition of mTORC1 Controls Sodium Channel Expression and Brain Amino Acid Homeostasis. », eNeuro, vol. 9, nᵒ 2, 2022.
, « Racial Disparities in Ion Channelopathies and Inherited Cardiovascular Diseases Associated With Sudden Cardiac Death. », J Am Heart Assoc, vol. 11, nᵒ 6, p. e023446, 2022.
, « -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.
