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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Detalhes bibliográficos
Publicado no:Brain Pathol
Main Authors: Leung, Conrad L., He, Cui Zhen, Kaufmann, Petra, Chin, Steven S., Naini, Ali, Liem, Ronald K. H., Mitsumoto, Hiroshi, Hays, Arthur P.
Formato: Artigo
Idioma:Inglês
Publicado em: Blackwell Publishing Ltd 2006
Assuntos:
Research Article
Acesso em linha: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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