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, David Neal, Prof, Belousova, Elena, MD, Sparagana, Steven, MD, Bebin, E Martina, MD, Frost, Michael, MD, Kuperman, Rachel, MD, Witt, Olaf, MD, Kohrman, Michael H, MD, Flamini, J Robert, MD, Wu, Joyce Y, MD, Curatolo, Paolo, Prof, de Vries, Petrus J, Prof, Whittemore, Vicky H, PhD, Thiele, Elizabeth A, MD, Ford, James P, MS, Shah, Gaurav, MD, Cauwel, Helene, MSc, Lebwohl, David, MD, Sahmoud, Tarek, MD, Jozwiak, Sergiusz, MD
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Deep learning in rare disease. Detection of tubers in tuberous sclerosis complex
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Long-Term Use of Everolimus in Patients with Tuberous Sclerosis Complex: Final Results from the EXIST-1 Study
Franz, David N, Belousova, Elena, Sparagana, Steven, Bebin, E Martina, Frost, Michael D, Kuperman, Rachel, Witt, Olaf, Kohrman, Michael H, Flamini, J Robert, Wu, Joyce Y, Curatolo, Paolo, de Vries, Petrus J, Berkowitz, Noah, Niolat, Julie, Jóźwiak, Sergiusz
Published in PloS one (28.06.2016)
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Affiliate stigma and caregiver burden in intractable epilepsy
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Published in Epilepsy & behavior (01.08.2018)
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Variant-specific changes in persistent or resurgent sodium current in SCN8A-related epilepsy patient-derived neurons
Tidball, Andrew M, Lopez-Santiago, Luis F, Yuan, Yukun, Glenn, Trevor W, Margolis, Joshua L, Clayton Walker, J, Kilbane, Emma G, Miller, Christopher A, Martina Bebin, E, Scott Perry, M, Isom, Lori L, Parent, Jack M
Published in Brain (London, England : 1878) (01.10.2020)
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Long-term safety and efficacy of highly purified cannabidiol for treatment refractory epilepsy
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Clinical Electroencephalographic Biomarker for Impending Epilepsy in Asymptomatic Tuberous Sclerosis Complex Infants
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Presentation and Diagnosis of Tuberous Sclerosis Complex in Infants
Davis, Peter E, Filip-Dhima, Rajna, Sideridis, Georgios, Peters, Jurriaan M, Au, Kit Sing, Northrup, Hope, Bebin, E Martina, Wu, Joyce Y, Krueger, Darcy, Sahin, Mustafa
Published in Pediatrics (Evanston) (01.12.2017)
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Everolimus for subependymal giant cell astrocytoma in patients with tuberous sclerosis complex: 2-year open-label extension of the randomised EXIST-1 study
Franz, David Neal, Dr Prof, Belousova, Elena, Prof, Sparagana, Steven, MD, Bebin, E Martina, MD, Frost, Michael, MD, Kuperman, Rachel, MD, Witt, Olaf, Prof, Kohrman, Michael H, Prof, Flamini, J Robert, MD, Wu, Joyce Y, MD, Curatolo, Paolo, Prof, de Vries, Petrus J, Prof, Berkowitz, Noah, MD, Anak, Oezlem, MD, Niolat, Julie, MSc, Jozwiak, Sergiusz, Prof
Published in The lancet oncology (01.12.2014)
Published in The lancet oncology (01.12.2014)
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Angiomyolipoma rebound tumor growth after discontinuation of everolimus in patients with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis
Bissler, John J, Nonomura, Norio, Budde, Klemens, Zonnenberg, Bernard A, Fischereder, Michael, Voi, Maurizio, Louveau, Anne-Laure, Herbst, Fabian, Bebin, E Martina, Curatolo, Paolo, Zonta, Andrea, Belousova, Elena
Published in PloS one (07.09.2018)
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Epilepsy Is Heterogeneous in Early-Life Tuberous Sclerosis Complex
Ihnen, S. Katie Z., Capal, Jamie K., Horn, Paul S., Griffith, Molly, Sahin, Mustafa, Bebin, E. Martina, Wu, Joyce Y., Northrup, Hope, Krueger, Darcy A.
Published in Pediatric neurology (01.10.2021)
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EEG Spectral Features in Sleep of Autism Spectrum Disorders in Children with Tuberous Sclerosis Complex
Cook, Ian A., Wilson, Andrew C., Peters, Jurriaan M., Goyal, Monisha N., Bebin, E. Martina, Northrup, Hope, Krueger, Darcy, Leuchter, Andrew F., Sahin, Mustafa
Published in Journal of autism and developmental disorders (01.03.2020)
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Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy
Møller, Rikke S, Weckhuysen, Sarah, Chipaux, Mathilde, Marsan, Elise, Taly, Valerie, Bebin, E Martina, Hiatt, Susan M, Prokop, Jeremy W, Bowling, Kevin M, Mei, Davide, Conti, Valerio, de la Grange, Pierre, Ferrand-Sorbets, Sarah, Dorfmüller, Georg, Lambrecq, Virginie, Larsen, Line H G, Leguern, Eric, Guerrini, Renzo, Rubboli, Guido, Cooper, Gregory M, Baulac, Stéphanie
Published in Neurology. Genetics (01.12.2016)
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Reproducibility of Structural and Diffusion Tensor Imaging in the TACERN Multi-Center Study
Prohl, Anna K, Scherrer, Benoit, Tomas-Fernandez, Xavier, Filip-Dhima, Rajna, Kapur, Kush, Velasco-Annis, Clemente, Clancy, Sean, Carmody, Erin, Dean, Meghan, Valle, Molly, Prabhu, Sanjay P, Peters, Jurriaan M, Bebin, E Martina, Krueger, Darcy A, Northrup, Hope, Wu, Joyce Y, Sahin, Mustafa, Warfield, Simon K
Published in Frontiers in integrative neuroscience (17.07.2019)
Published in Frontiers in integrative neuroscience (17.07.2019)
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Eliciting preferences on secondary findings: the Preferences Instrument for Genomic Secondary Results
Brothers, Kyle B., East, Kelly M., Kelley, Whitley V., Wright, M. Frances, Westbrook, Matthew J., Rich, Carla A., Bowling, Kevin M., Lose, Edward J., Bebin, E. Martina, Simmons, Shirley, Myers, John A., Barsh, Greg, Myers, Richard M., Cooper, Greg M., Pulley, Jill M., Rothstein, Mark A., Clayton, Ellen Wright
Published in Genetics in medicine (01.03.2017)
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Impacting development in infants with tuberous sclerosis complex: Multidisciplinary research collaboration
Williams, Marian E, Pearson, Deborah A, Capal, Jamie K, Byars, Anna W, Murray, Donna S, Kissinger, Robin, O'Kelley, Sarah E, Hanson, Ellen, Bing, Nicole M, Kent, Bridget, Wu, Joyce Y, Northrup, Hope, Bebin, E Martina, Sahin, Mustafa, Krueger, Darcy
Published in The American psychologist (01.04.2019)
Published in The American psychologist (01.04.2019)
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Long‐term efficacy and safety of cannabidiol in patients with tuberous sclerosis complex: 3‐year results from the cannabidiol expanded access program
Weinstock, Arie, Bebin, E. Martina, Checketts, Daniel, Clark, Gary D., Szaflarski, Jerzy P., Seltzer, Laurie E., Thiele, Elizabeth A., Sahebkar, Farhad
Published in Epilepsia open (01.10.2024)
Published in Epilepsia open (01.10.2024)
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