A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis - Nishimura, Agnes L.; Mitne Neto, Miguel; Silva, Helga C. A.; Richieri-Costa, Antonio; Middleton, Susan; Cascio, Duilio; Kok, Fernando; Oliveira, João R. M.; Gillingwater, Tom; Webb, Jeanette; Skehel, Paul; Zatz, Mayana (American Journal of Human Genetics, 2004)