Jansen, Anna

Tuberous Sclerosis Complex Diagnostic Criteria Update: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference

Northrup, H., Krueger, D. A., Northrup, H., Krueger, D. A., Roberds, S., Smith, K., Sampson, J., Korf, B., Kwiatkowski, D. J., Mowat, D., et al. (2013) · Pediatric Neurology

Tuberous Sclerosis Complex ResearchGenetic and rare skin diseases.

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Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

Köhler, S., Carmody, L., Vasilevsky, N., Jacobsen, J. O. B., Danis, D., Gourdine, J.-P., Gargano, M., Harris, N. L., Matentzoglu, N., McMurry, J. A., et al. (2019) · Nucleic Acids Research

Biomedical Text Mining and OntologiesGenomics and Rare Diseases

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Tuberous Sclerosis Associated Neuropsychiatric Disorders (TAND) and the TAND Checklist

de Vries, P. J., Whittemore, V. H., Leclezio, L., Byars, A. W., Dunn, D., Ess, K. C., Hook, D., King, B. H., Sahin, M., & Jansen, A. (2015) · Pediatric Neurology

Tuberous Sclerosis Complex ResearchGenetic and rare skin diseases.

Cited by 371

Tuberous Sclerosis registry to increase disease Awareness (TOSCA): baseline data on 2093 patients

on behalf of TOSCA consortium and TOSCA investigators, Kingswood, J. C., d’Augères, G. B., Belousova, E., Ferreira, J. C., Carter, T., Castellana, R., Cottin, V., Curatolo, P., Dahlin, M., et al. (2017) · Orphanet Journal of Rare Diseases

Tuberous Sclerosis Complex ResearchGenetic and rare skin diseases.

Cited by 267

Management of epilepsy associated with tuberous sclerosis complex: Updated clinical recommendations

Curatolo, P., Nabbout, R., Lagae, L., Aronica, E., Ferreira, J. C., Feucht, M., Hertzberg, C., Jansen, A. C., Jansen, F., Kotulska, K., et al. (2018) · European Journal of Paediatric Neurology

Tuberous Sclerosis Complex ResearchEpilepsy research and treatment

Cited by 190

Genotype-phenotype correlations in SCN8A -related disorders reveal prognostic and therapeutic implications

Johannesen, K. M., Liu, Y., Koko, M., Gjerulfsen, C. E., Sonnenberg, L., Schubert, J., Fenger, C. D., Eltokhi, A., Rannap, M., Koch, N. A., et al. (2022) · Brain

Epilepsy research and treatmentIon channel regulation and function

Cited by 147

Everolimus for treatment-refractory seizures in TSC: Extension of a randomized controlled trial

Franz, D. N., Lawson, J. A., Yapici, Z., Ikeda, H., Polster, T., Nabbout, R., Curatolo, P., de Vries, P. J., Dlugos, D. J., Voi, M., et al. (2018) · Neurology Clinical Practice

Tuberous Sclerosis Complex ResearchEpilepsy research and treatment

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SCN3A‐Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation

Zaman, T., Helbig, K. L., Clatot, J., Thompson, C. H., Kang, S. K., Stouffs, K., Jansen, A. E., Verstraete, L., Jacquinet, A., Parrini, E., et al. (2020) · Annals of Neurology

Epilepsy research and treatmentIon channel regulation and function

Cited by 94

Epilepsy and Neurodevelopmental Comorbidities in Tuberous Sclerosis Complex: A Natural History Study

Gupta, A., de Bruyn, G., Tousseyn, S., Krishnan, B., Lagae, L., Agarwal, N., Minnesota Epilepsy Group, Frost, M., Sparagana, S., LaJoie, J., et al. (2020) · Pediatric Neurology

Tuberous Sclerosis Complex ResearchEpilepsy research and treatment

Cited by 64

Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2B

Brock, S., Laquerriere, A., Marguet, F., Myers, S. J., Hongjie, Y., Baralle, D., Vanderhasselt, T., Stouffs, K., Keymolen, K., Kim, S., et al. (2023) · Journal of Medical Genetics

Fetal and Pediatric Neurological DisordersGenetics and Neurodevelopmental Disorders

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