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Reversibility of motor dysfunction in the rat model of NGLY1 deficiency
N-glycanase 1 (NGLY1) deficiency is a rare inherited disorder characterized by developmental delay, hypolacrima or alacrima, seizure, intellectual disability, motor deficits, and other neurological symptoms. The underlying mechanisms of the NGLY1 phenotype are poorly understood, and no effective the...
Autores principales: | Asahina, Makoto, Fujinawa, Reiko, Hirayama, Hiroto, Tozawa, Ryuichi, Kajii, Yasushi, Suzuki, Tadashi |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8201687/ https://www.ncbi.nlm.nih.gov/pubmed/34120625 http://dx.doi.org/10.1186/s13041-021-00806-6 |
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