Riessland et al., 2017 - Neurocalcin Delta Suppression Protects against Spinal Muscular Atrophy in Humans and across Species by Restoring Impaired Endocytosis. American journal of human genetics   100(2):297-315 Full text @ Am. J. Hum. Genet.
Human Disease / Model Data (1 Record)
Human Disease Fish Environment Evidence Code
spinal muscular atrophy ml2Tg + MO1-smn1 standard conditions