A Pathogenic Peripherin Gene Mutation in a Patient with Amyotrophic Lateral Sclerosis

Peripherin is a neuronal intermediate filament protein that is expressed chiefly in motor neurons and other nerve cells that project into the peripheral nervous system. Transgenic mice that over‐express peripherin develop motor neuron degeneration, suggesting that mutations in peripherin could contr...

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Detalles Bibliográficos
Publicado en:Brain Pathol
Autores principales: Leung, Conrad L., He, Cui Zhen, Kaufmann, Petra, Chin, Steven S., Naini, Ali, Liem, Ronald K. H., Mitsumoto, Hiroshi, Hays, Arthur P.
Formato: Artigo
Lenguaje:Inglês
Publicado: Blackwell Publishing Ltd 2006
Materias:
Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC8095763/
https://ncbi.nlm.nih.gov/pubmed/15446584
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1750-3639.2004.tb00066.x
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