Catarino, Claudia B.

Analysis of shared heritability in common disorders of the brain

The Brainstorm Consortium, Anttila, V., Bulik-Sullivan, B., Finucane, H. K., Walters, R. K., Bras, J., Duncan, L., Escott-Price, V., Falcone, G. J., Gormley, P., et al. (2018) · Science

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

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Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies

The International League Against Epilepsy Consortium on Complex Epilepsies, Abou-Khalil, B., Auce, P., Avbersek, A., Bahlo, M., Balding, D. J., Bast, T., Baum, L., Becker, A. J., Becker, F., et al. (2018) · Nature Communications

Epilepsy research and treatmentGenetic Associations and Epidemiology

Cited by 482

Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology

Catarino, C. B., Liu, J. Y. W., Liagkouras, I., Gibbons, V. S., Labrum, R. W., Ellis, R., Woodward, C., Davis, M. B., Smith, S. J., Cross, J. H., et al. (2011) · Brain

Epilepsy research and treatmentPharmacological Effects and Toxicity Studies

Cited by 227

Efficacy and Safety of Intravitreal Gene Therapy for Leber Hereditary Optic Neuropathy Treated within 6 Months of Disease Onset

Newman, N. J., Yu-Wai-Man, P., Carelli, V., Moster, M. L., Biousse, V., Vignal-Clermont, C., Sergott, R. C., Klopstock, T., Sadun, A. A., Barboni, P., et al. (2021) · Ophthalmology

Retinal Development and DisordersVirus-based gene therapy research

Cited by 168

Neurofibrillary tangle pathology and Braak staging in chronic epilepsy in relation to traumatic brain injury and hippocampal sclerosis: a post-mortem study.

Thom, M., Liu, J. Y. W., Thompson, P., Phadke, R., Narkiewicz, M., Martinian, L., Marsdon, D., Koepp, M., Caboclo, L., Catarino, C. B., et al. (2011) · Brain

Epilepsy research and treatmentAlzheimer's disease research and treatments

Cited by 167

Myeloid cell–specific loss of NPC1 in mice recapitulates microgliosis and neurodegeneration in patients with Niemann-Pick type C disease

Dinkel, L., Hummel, S., Zenatti, V., Malara, M., Tillmann, Y., Colombo, A., Monasor, L. S., Suh, J. H., Logan, T., Roth, S., et al. (2024) · Science Translational Medicine

Lysosomal Storage Disorders ResearchNeuroinflammation and Neurodegeneration Mechanisms

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