Publications
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Filtres: Author is Puymirat, Jack [Enlever les filtres]
, « Generation of four myotonic dystrophy type 1 patient iPSC lines (CBRCULi002-A, CBRCULi003-A, CBRCULi004-A, CBRCULi005-A) and a control (CBRCULi001-A) derived from lymphoblastoids cell lines. », Stem Cell Res, vol. 67, p. 103037, 2023.
, « Lymphoblastoid cell lines derived from iPSCs of a myotonic dystrophy type 1 patient carrying 700 CTG repeats (CBRCULi007-A) and a control (CBRCULi006-A). », Stem Cell Res, vol. 71, p. 103148, 2023.
, « Antisense oligonucleotides as a potential treatment for brain deficits observed in myotonic dystrophy type 1. », Gene Ther, vol. 29, nᵒ 12, p. 698-709, 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, p. 810-820, 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.
, « Deciphering the mechanisms underlying brain alterations and cognitive impairment in congenital myotonic dystrophy. », Neurobiol Dis, vol. 160, p. 105532, 2021.
, « Biophysical characterization of M1476I, a sodium channel founder mutation associated with cold-induced myotonia in French Canadians. », J Physiol, vol. 590, nᵒ 11, p. 2629-44, 2012.
