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Neuronal and Astrocytic Differentiation from Sanfilippo C Syndrome iPSCs for Disease Modeling and Drug Development.
J Clin Med. 2020 Feb 28;9(3):644. doi: 10.3390/jcm9030644.
J Clin Med. 2020.
PMID: 32121121
Free PMC article.
Over-Mutated Mitochondrial, Lysosomal and TFEB-Regulated Genes in Parkinson's Disease.
Segur-Bailach E, Ugarteburu O, Tort F, Texido L, Painous C, Compta Y, Martí MJ, Ribes A, Gort L.
Segur-Bailach E, et al.
J Clin Med. 2022 Mar 21;11(6):1749. doi: 10.3390/jcm11061749.
J Clin Med. 2022.
PMID: 35330074
Free PMC article.
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CRISPR/Cas9-based functional genomics strategy to decipher the pathogenicity of genetic variants in inherited metabolic disorders.
Muñoz-Pujol G, Ugarteburu O, Segur-Bailach E, Moliner S, Jurado S, Garrabou G, Guitart-Mampel M, García-Villoria J, Artuch R, Fons C, Ribes A, Tort F.
Muñoz-Pujol G, et al. Among authors: segur bailach e.
J Inherit Metab Dis. 2023 Nov;46(6):1029-1042. doi: 10.1002/jimd.12681. Epub 2023 Oct 3.
J Inherit Metab Dis. 2023.
PMID: 37718653
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Modeling Glutaric Aciduria Type I in human neuroblastoma cells recapitulates neuronal damage that can be rescued by gene replacement.
Mateu-Bosch A, Segur-Bailach E, García-Villoria J, Gea-Sorlí S, Ruiz I, Del Rey J, Camps J, Guitart-Mampel M, Garrabou G, Tort F, Ribes A, Fillat C.
Mateu-Bosch A, et al. Among authors: segur bailach e.
Gene Ther. 2024 Jan;31(1-2):12-18. doi: 10.1038/s41434-023-00428-8. Epub 2023 Nov 20.
Gene Ther. 2024.
PMID: 37985879
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