A Mutation in the Vesicle-Trafficking Protein VAPB Causes Late-Onset Spinal Muscular Atrophy and Amyotrophic Lateral Sclerosis

Motor neuron diseases (MNDs) are a group of neurodegenerative disorders with involvement of upper and/or lower motor neurons, such as amyotrophic lateral sclerosis (ALS), spinal muscular atrophy (SMA), progressive bulbar palsy, and primary lateral sclerosis. Recently, we have mapped a new locus for...

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Main Authors: Nishimura, Agnes L., Mitne-Neto, Miguel, Silva, Helga C. A., Richieri-Costa, Antônio, Middleton, Susan, Cascio, Duilio, Kok, Fernando, Oliveira, João R. M., Gillingwater, Tom, Webb, Jeanette, Skehel, Paul, Zatz, Mayana
Formato: Artigo
Idioma:Inglês
Publicado: The American Society of Human Genetics 2004
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC1182111/
https://ncbi.nlm.nih.gov/pubmed/15372378
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