Damiano, John

Strikingly Different Clinicopathological Phenotypes Determined by Progranulin-Mutation Dosage

Smith, K. R., Damiano, J., Franceschetti, S., Carpenter, S., Canafoglia, L., Morbin, M., Rossi, G., Pareyson, D., Mole, S. E., Staropoli, J. F., et al. (2012) · The American Journal of Human Genetics

Amyotrophic Lateral Sclerosis ResearchLysosomal Storage Disorders Research

Cited by 489

Genetic epilepsy with febrile seizures plus: Refining the spectrum

Zhang, Y.-H., Burgess, R., Malone, J. P., Glubb, G. C., Helbig, K. L., Vadlamudi, L., Kivity, S., Afawi, Z., Bleasel, A., Grattan-Smith, P., et al. (2017) · Neurology

Epilepsy research and treatmentPharmacological Effects and Toxicity Studies

Cited by 139

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

Mullen, S. A., Marini, C., Suls, A., Mei, D., Della Giustina, E., Buti, D., Arsov, T., Damiano, J., Lawrence, K., De Jonghe, P., et al. (2011) · Archives of Neurology

Epilepsy research and treatmentGlycogen Storage Diseases and Myoclonus

Cited by 138

Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis

Smith, K. R., Dahl, H.-H. M., Canafoglia, L., Andermann, E., Damiano, J., Morbin, M., Bruni, A. C., Giaccone, G., Cossette, P., Saftig, P., et al. (2013) · Human Molecular Genetics

Lysosomal Storage Disorders ResearchGlycogen Storage Diseases and Myoclonus

Cited by 130

Cerebrospinal fluid liquid biopsy for detecting somatic mosaicism in brain

Ye, Z., Chatterton, Z., Pflueger, J., Damiano, J. A., McQuillan, L., Simon Harvey, A., Malone, S., Do, H., Maixner, W., Schneider, A., et al. (2021) · Brain Communications

Cancer Genomics and DiagnosticsGenomic variations and chromosomal abnormalities

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