Sparagana, Steven

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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Efficacy and safety of everolimus for subependymal giant cell astrocytomas associated with tuberous sclerosis complex (EXIST-1): a multicentre, randomised, placebo-controlled phase 3 trial

Franz, D. N., Belousova, E., Sparagana, S., Bebin, E. M., Frost, M., Kuperman, R., Witt, O., Kohrman, M. H., Flamini, J. R., Wu, J. Y., et al. (2013) · The Lancet

Tuberous Sclerosis Complex ResearchPI3K/AKT/mTOR signaling in cancer

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Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

Shinawi, M., Liu, P., Kang, S.-H. L., Shen, J., Belmont, J. W., Scott, D. A., Probst, F. J., Craigen, W. J., Graham, B. H., Pursley, A., et al. (2010) · Journal of Medical Genetics

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

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Add-on Cannabidiol Treatment for Drug-Resistant Seizures in Tuberous Sclerosis Complex: A Placebo-Controlled Randomized Clinical Trial

Thiele, E. A., Bebin, E. M., Bhathal, H., Jansen, F. E., Kotulska, K., Lawson, J. A., O'Callaghan, F. J., Wong, M., Sahebkar, F., Checketts, D., et al. (2021) · JAMA Neurology

Epilepsy research and treatmentCannabis and Cannabinoid Research

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22q13.3 deletion syndrome: clinical and molecular analysis using array CGH

Dhar, S. U., del Gaudio, D., German, J. R., Peters, S. U., Ou, Z., Bader, P. I., Berg, J. S., Blazo, M., Brown, C. W., Graham, B. H., et al. (2010) · American Journal of Medical Genetics Part A

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

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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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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

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Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy

Peng, Y., Shinde, D. N., Valencia, C. A., Mo, J.-S., Rosenfeld, J., Truitt Cho, M., Chamberlin, A., Li, Z., Liu, J., Gui, B., et al. (2017) · Human Molecular Genetics

Mitochondrial Function and PathologyMetabolism and Genetic Disorders

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Brain MRI abnormalities and spectrum of neurological and clinical findings in three patients with proximal 16p11.2 microduplication

Filges, I., Sparagana, S., Sargent, M., Selby, K., Schlade‐Bartusiak, K., Lueder, G. T., Robichaux‐Viehoever, A., Schlaggar, B. L., Shimony, J. S., & Shinawi, M. (2014) · American Journal of Medical Genetics Part A

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

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