John A. Damiano
The University of Melbourne(AU)Austin Health(AU)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Epilepsy research and treatment, Genomics and Rare Diseases, Metabolism and Genetic Disorders, Glycogen Storage Diseases and Myoclonus
Most-Cited Works
- → Strikingly Different Clinicopathological Phenotypes Determined by Progranulin-Mutation Dosage(2012)485 cited
- → GRIN2A mutations cause epilepsy-aphasia spectrum disorders(2013)372 cited
- → Kufs Disease, the Major Adult Form of Neuronal Ceroid Lipofuscinosis, Caused by Mutations in CLN6(2011)162 cited
- → Recent advances in the molecular genetics of epilepsy(2013)146 cited
- → Glucose transporter 1 deficiency in the idiopathic generalized epilepsies(2012)142 cited
- → Glucose Transporter 1 Deficiency as a Treatable Cause of Myoclonic Astatic Epilepsy(2011)134 cited
- → Genetic epilepsy with febrile seizures plus(2017)131 cited
- → Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis(2013)128 cited
- → Early onset absence epilepsy: 1 in 10 cases is caused by GLUT1 deficiency(2012)115 cited
- → Real-world utility of whole exome sequencing with targeted gene analysis for focal epilepsy(2017)111 cited