Developmental delay and late onset HBSL pathology in hypomorphic Dars1(M256L) mice

The leukodystrophy Hypomyelination with Brainstem and Spinal cord involvement and Leg spasticity (HBSL) is caused by recessive mutations of the DARS1 gene, which encodes the cytoplasmic aspartyl-tRNA synthetase. HBSL is a spectrum disorder with disease onset usually during early childhood and no ava...

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Detalles Bibliográficos
Autores principales: Klugmann, Matthias, Kalotay, Elizabeth, Delerue, Fabien, Ittner, Lars M., Bongers, Andre, Yu, Josephine, Morris, Margaret J., Housley, Gary D., Fröhlich, Dominik
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2022
Materias:
Original Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9217827/
https://www.ncbi.nlm.nih.gov/pubmed/35357600
http://dx.doi.org/10.1007/s11064-022-03582-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9217827/
https://www.ncbi.nlm.nih.gov/pubmed/35357600
http://dx.doi.org/10.1007/s11064-022-03582-4

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