Publications
Export 3 results:
Author Title [ Year
Filters: Author is Lalani, Seema R and Keyword is Animals [Clear All Filters]
Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially. PLoS Genet 13, e1006905 (2017).
Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. Am J Hum Genet 95, 579-83 (2014).