Absence of UCHL 1 function leads to selective motor neuropathy

OBJECTIVE: The aim of this study was to investigate the role of ubiquitin C‐terminal hydrolase‐L1 (UCHL1) for motor neuron circuitry and especially in spinal motor neuron (SMN) health, function, and connectivity. METHODS: Since mutations in UCHL1 gene leads to motor dysfunction in patients, we inves...

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Publicado en:Ann Clin Transl Neurol
Autores principales: Genç, Barış, Jara, Javier H., Schultz, Megan C., Manuel, Marin, Stanford, Macdonell J., Gautam, Mukesh, Klessner, Jodi L., Sekerkova, Gabriella, Heller, Daniel B., Cox, Gregory A., Heckman, Charles J., DiDonato, Christine J., Özdinler, P. Hande
Formato: Artigo
Lenguaje:Inglês
Publicado: John Wiley and Sons Inc. 2016
Materias:
Research Articles
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4863746/
https://ncbi.nlm.nih.gov/pubmed/27231703
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.298
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