Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially - Luo, Xi; Rosenfeld, Jill A.; Yamamoto, Shinya; Harel, Tamar; Zuo, Zhongyuan; Hall, Melissa; Wierenga, Klaas J.; Pastore, Matthew T.; Bartholomew, Dennis; Delgado, Mauricio R.; Rotenberg, Joshua; Lewis, Richard Alan; et al. (PLoS genetics, 2017)
Keywords: Abnormalities; Alleles; Animals; Animals, Genetically Modified; Ataxia; Atrophy; Bioinformatics; Biology and Life Sciences; Calcium channels (voltage-gated); Calcium Channels - genetics; Cerebellar Ataxia - diagnostic imaging; Cerebellar Ataxia - genetics; Cerebellum; Child; Child, Preschool; Drosophila; Drosophila melanogaster - genetics; Electron microscopy; Electroretinograms; Female; Flies; Gene mutation; Genetic aspects; Genetics; Genome, Human; Genome-Wide Association Study; Genomics; Health aspects; Health sciences; Homology; Humans; Hypotonia; Insects; Lethality; Male; Medicine and Health Sciences; Microscopy, Electron, Transmission; Mutation; Mutation, Missense; Neurodegeneration; Neurodegenerative diseases; Neurodegenerative Diseases - genetics; Neuroimaging; Phenotype; Point Mutation; Research and Analysis Methods; Sequences; Social Sciences; Transgenic; Transmission electron microscopy