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iPSC‐based modeling of THD recapitulates disease phenotypes and reveals neuronal malformation
Tyrosine hydroxylase deficiency (THD) is a rare genetic disorder leading to dopaminergic depletion and early‐onset Parkinsonism. Affected children present with either a severe form that does not respond to L‐Dopa treatment (THD‐B) or a milder L‐Dopa responsive form (THD‐A). We generated induced plur...
Autores principales: | Tristán‐Noguero, Alba, Fernández‐Carasa, Irene, Calatayud, Carles, Bermejo‐Casadesús, Cristina, Pons‐Espinal, Meritxell, Colini Baldeschi, Arianna, Campa, Leticia, Artigas, Francesc, Bortolozzi, Analia, Domingo‐Jiménez, Rosario, Ibáñez, Salvador, Pineda, Mercè, Artuch, Rafael, Raya, Ángel, García‐Cazorla, Àngels, Consiglio, Antonella |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9994475/ https://www.ncbi.nlm.nih.gov/pubmed/36740977 http://dx.doi.org/10.15252/emmm.202215847 |
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