Biblio
Bridging the translational gap: what can synaptopathies tell us about autism?. Front Mol Neurosci. 2023;16:1191323.
Generation of three induced pluripotent stem cell lines from a patient with KCNQ2 developmental and epileptic encephalopathy as a result of the pathogenic variant c.638C > T; p.Arg213Gln (NUIGi063-A, NUIGi063-B, NUIGi063-C) and 3 healthy controls (NUIGi. Stem Cell Res. 2023;69:103093.
. Generation of three induced pluripotent stem cell lines from a patient with KCNQ2 developmental and epileptic encephalopathy as a result of the pathogenic variant c.881C > T; p.Ala294Val (NUIGi059-A, NUIGi059-B, NUIGi059-C) and 3 healthy controls (NUIGi. Stem Cell Res. 2023;71:103191.
. Patient-Specific iPSC-Derived Models Link Aberrant Endoplasmic Reticulum Stress Sensing and Response to Juvenile Osteochondritis Dissecans Etiology. Stem Cells Transl Med. 2023;12(5):293-306.
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Derivation of four iPSC lines from a male ASD patient carrying a deletion in the middle coding region of NRXN1α gene (NUIGi039-A and NUIGi039-B) and a male sibling control (NUIGi040-A and NUIGi040-B). Stem Cell Res. 2021;53:102254.
Derivation of two iPSC lines from a sporadic ASD patient (NUIGi033-A) and a paternal control (NUIGi034-A). Stem Cell Res. 2020;44:101722.
Generation and characterization of an induced pluripotent stem cell (iPSC) line (NUIGi003-A) from a long QT syndrome type 2 (LQT2) patient harbouring the KCNH2 c.2464G>A pathogenic variant. Stem Cell Res. 2020;49:101997.
. Generation and characterization of two induced pluripotent stem cell lines (NUIGi038-A, NUIGi038-B) from dermal fibroblasts of a healthy individual. Stem Cell Res. 2020;49:101996.
. Generation of twelve induced pluripotent stem cell lines from two healthy controls and two patients with sporadic amyotrophic lateral sclerosis. Stem Cell Res. 2020;44:101752.
. Induced pluripotent stem cell line derived from a sporadic amyotrophic lateral sclerosis patient. Stem Cell Res. 2020;45:101841.
Derivation of familial iPSC lines from three ASD patients carrying NRXN1α and two controls (NUIGi022-A, NUIGi022-B; NUIGi023-A, NUIGi023-B; NUIGi025-A, NUIGi025-B; NUIGi024-A, NUIGi024-B; NUIGi026-A, NUIGi026-B). Stem Cell Res. 2019;41:101653.
Derivation of familial iPSC lines from three patients with retinitis pigmentosa carrying an autosomal dominant RPE65 mutation (NUIGi027-A, NUIGi028-A, NUIGi029-A). Stem Cell Res. 2019;43:101665.
. Generation and characterization of a human induced pluripotent stem cell (iPSC) line (HEBHMUi001-A) from a sporadic Parkinson's disease patient. Stem Cell Res. 2019;36:101417.
Generation and characterization of twelve human induced pluripotent stem cell (iPSC) lines from four familial long QT syndrome type 1 (LQT1) patients carrying KCNQ1 c.1201dupC mutation. Stem Cell Res. 2019;41:101650.
. Generation of eight human induced pluripotent stem cell (iPSC) lines from familial Long QT Syndrome type 1 (LQT1) patients carrying KCNQ1 c.1697C>A mutation (NUIGi005-A, NUIGi005-B, NUIGi005-C, NUIGi006-A, NUIGi006-B, NUIGi006-C, NUIGi007-A, and NUIGi007-. Stem Cell Res. 2019;39:101502.
. Generation of six induced pluripotent stem cell (iPSC) lines from two patients with amyotrophic lateral sclerosis (NUIGi043-A, NUIGi043-B, NUIGi043-C, NUIGi044-A, NUIGi044-B, NUIGi044-C). Stem Cell Res. 2019;40:101558.
. Increased Ca signaling in neurons derived from ASD induced pluripotent stem cells. Mol Autism. 2019;10:52.
Ulk4 Regulates Neural Stem Cell Pool. Stem Cells. 2016.
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