John A. Damiano
245 Burgundy St
Heidelberg, VIC 3084, Australia
Heidelberg, VIC 3084, Australia
Last Updated: 09/26/2026
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Found 52 publications
A Machine-Vision Approach to Transmission Electron Microscopy Workflows, Results Analysis and Data Management.
Journal: Journal of visualized experiments : JoVE
Published: July 10, 2023
Recognition and epileptology of protracted CLN3 disease.
Journal: Epilepsia
Published: September 17, 2022
Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributions.
Journal: Human molecular genetics
Published: November 04, 2021
Evidence for a Dual-Pathway, 2-Hit Genetic Model for Focal Cortical Dysplasia and Epilepsy.
Journal: Neurology. Genetics
Published: August 20, 2021
Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy.
Journal: Brain : a journal of neurology
Published: August 18, 2021
Genome-wide association study of febrile seizures implicates fever response and neuronal excitability genes.
Journal: Brain : a journal of neurology
Published: February 08, 2021
Cerebrospinal fluid liquid biopsy for detecting somatic mosaicism in brain.
Journal: Brain communications
Published: November 16, 2020
Contribution of rare genetic variants to drug response in absence epilepsy.
Journal: Epilepsy research
Published: October 21, 2020
Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes.
Journal: American journal of human genetics
Published: June 29, 2020
Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly.
Journal: Neuron
Published: September 04, 2019
SCN1A Variants in vaccine-related febrile seizures: A prospective study.
Journal: Annals of neurology
Published: August 31, 2019
Last Updated: 09/26/2026