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A Hypomorphic Dars1(D367Y) Model Recapitulates Key Aspects of the Leukodystrophy HBSL
Hypomyelination with brain stem and spinal cord involvement and leg spasticity (HBSL) is a leukodystrophy caused by missense mutations of the aspartyl-tRNA synthetase-encoding gene DARS1. The clinical picture includes the regression of acquired motor milestones, spasticity, ataxia, seizures, nystagm...
Autores principales: | Fröhlich, Dominik, Mendes, Marisa I., Kueh, Andrew J., Bongers, Andre, Herold, Marco J., Salomons, Gajja S., Housley, Gary D., Klugmann, Matthias |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2021
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7855723/ https://www.ncbi.nlm.nih.gov/pubmed/33551752 http://dx.doi.org/10.3389/fncel.2020.625879 |
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