John A. Damiano

Strikingly Different Clinicopathological Phenotypes Determined by Progranulin-Mutation Dosage

Katherine R. Smith, John A. Damiano, Silvana Franceschetti et al. · The American Journal of Human Genetics · 2012 · 479 citations · Full text

Neurodegenerative Diseases, Mendelian Disorder, Genetic Disorder +15

GRIN2A mutations cause epilepsy-aphasia spectrum disorders

Gemma L. Carvill, Brigid M. Regan, Simone C. Yendle et al. · Nature Genetics · 2013 · 372 citations · Full text

Genetic Disorder, Grin2a Mutations, Neurology +4

Kufs Disease, the Major Adult Form of Neuronal Ceroid Lipofuscinosis, Caused by Mutations in CLN6

Todor Arsov, Katherine R. Smith, John A. Damiano et al. · The American Journal of Human Genetics · 2011 · 162 citations · Full text

Neuro-oncology, Kufs Disease, Pathology +7

Glucose transporter 1 deficiency in the idiopathic generalized epilepsies

Todor Arsov, Saul A. Mullen, Sue Rogers et al. · Annals of Neurology · 2012 · 142 citations

Glucose Transporter 1 Deficiency as a Treatable Cause of Myoclonic Astatic Epilepsy

Saul A. Mullen, Carla Marini, Arvid Suls et al. · Archives of Neurology · 2011 · 134 citations · Full text