Publications
Export 3 results:
Filters: Keyword is Mutation and Author is Lotze, Timothy [Clear All Filters]
Cation leak through the ATP1A3 pump causes spasticity and intellectual disability. Brain. 2023 ;146(8):3162-3171.
. Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. Am J Hum Genet. 2014 ;95(5):579-83.
. Mutations in VRK1 associated with complex motor and sensory axonal neuropathy plus microcephaly. JAMA Neurol. 2013 ;70(12):1491-8.
.