Publications

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Filters: Author is Mohamed Chahine  [Clear All Filters]
2022
Antisense oligonucleotides as a potential treatment for brain deficits observed in myotonic dystrophy type 1., Gene Ther, vol. 29, no. 12, pp. 698-709, 2022.
Combining NGN2 programming and dopaminergic patterning for a rapid and efficient generation of hiPSC-derived midbrain neurons., Sci Rep, vol. 12, no. 1, p. 17176, 2022.
De novo Y1460C missense variant in Na1.1 impedes the pore region and results in epileptic encephalopathy., Sci Rep, vol. 12, no. 1, p. 17182, 2022.
Editorial: Structure Related Druggability of Voltage-Gated Sodium and Calcium Ion-Channels to Treat Diseases., Front Pharmacol, vol. 13, p. 947511, 2022.
Enhanced Delivery of Ligand-Conjugated Antisense Oligonucleotides (C16-HA-ASO) Targeting Dystrophia Myotonica Protein Kinase Transcripts for the Treatment of Myotonic Dystrophy Type 1., Hum Gene Ther, vol. 33, no. 15-16, pp. 810-820, 2022.
Genetic associations of protein-coding variants in human disease., Nature, vol. 603, no. 7899, pp. 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.
Recent Progress and Challenges in the Development of Antisense Therapies for Myotonic Dystrophy Type 1., Int J Mol Sci, vol. 23, no. 21, 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, pp. 1388-1397, 2022.

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