mTOR inhibitors in the pharmacologic management of tuberous sclerosis complex and their potential role in other rare neurodevelopmental disorders

por Franz, David N., Capal, Jamie K.
Publicado 2017

Pooled analysis of menstrual irregularities from three major clinical studies evaluating everolimus for the treatment of tuberous sclerosis complex

por Sparagana, Steven, Franz, David N., Krueger, Darcy A., Bissler, John J., Berkowitz, Noah, Burock, Karin, Kingswood, J. Christopher
Publicado 2017

Symptom rates and profile clustering in tuberous sclerosis complex-associated neuropsychiatric disorders (TAND)

por Alperin, Samuel, Krueger, Darcy A., Franz, David N., Agricola, Karen D., Stires, Gabrielle, Horn, Paul S., Capal, Jamie K.
Publicado 2021

RHOA signaling defects result in impaired axon guidance in iPSC-derived neurons from patients with tuberous sclerosis complex

por Catlett, Timothy S., Onesto, Massimo M., McCann, Alec J., Rempel, Sarah K., Glass, Jennifer, Franz, David N., Gómez, Timothy M.
Publicado 2021

Prevalence of thoracoabdominal imaging findings in tuberous sclerosis complex

por Ritter, David M., Fessler, Bailey K., Ebrahimi-Fakhari, Daniel, Wei, Jun, Franz, David N., Krueger, Darcy A., Trout, Andrew T., Towbin, Alexander J.
Publicado 2022

The effect of everolimus on renal angiomyolipoma in pediatric patients with tuberous sclerosis being treated for subependymal giant cell astrocytoma

por Bissler, John J., Franz, David N., Frost, Michael D., Belousova, Elena, Bebin, E. Martina, Sparagana, Steven, Berkowitz, Noah, Ridolfi, Antonia, Kingswood, J. Christopher
Publicado 2017

Everolimus for subependymal giant cell astrocytoma: 5‐year final analysis

por Franz, David N., Agricola, Karen, Mays, Maxwell, Tudor, Cindy, Care, Marguerite M., Holland‐Bouley, Katherine, Berkowitz, Noah, Miao, Sara, Peyrard, Séverine, Krueger, Darcy A.
Publicado 2015

Measuring Health-Related Quality of Life in Tuberous Sclerosis Complex – Psychometric Evaluation of Three Instruments in Individuals With Refractory Epilepsy

por de Vries, Petrus J., Franz, David N., Curatolo, Paolo, Nabbout, Rima, Neary, Maureen, Herbst, Fabian, Sully, Kate, Brohan, Elaine, Bennett, Bryan, Lawson, John A.
Publicado 2018

Effect of everolimus on renal function in patients with tuberous sclerosis complex: evidence from EXIST-1 and EXIST-2

por Bissler, John J, Budde, Klemens, Sauter, Matthias, Franz, David N, Zonnenberg, Bernard A, Frost, Michael D, Belousova, Elena, Berkowitz, Noah, Ridolfi, Antonia, Christopher Kingswood, J
Publicado 2019

Everolimus for treatment of tuberous sclerosis complex‐associated neuropsychiatric disorders

por Krueger, Darcy A., Sadhwani, Anjali, Byars, Anna W., de Vries, Petrus J., Franz, David N., Whittemore, Vicky H., Filip‐Dhima, Rajna, Murray, Donna, Kapur, Kush, Sahin, Mustafa
Publicado 2017

Cellular and molecular characterization of two novel asparagine synthetase gene mutations linked to asparagine synthetase deficiency

por Staklinski, Stephen J., Chang, Mario C., Yu, Fang, Collins Ruff, Kathleen, Franz, David N., Qian, Zhijian, Bloom, Linda B., Merritt, Matthew E., McKenna, Robert, Kilberg, Michael S.
Publicado 2022

Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing

por Tyburczy, Magdalena E., Dies, Kira A., Glass, Jennifer, Camposano, Susana, Chekaluk, Yvonne, Thorner, Aaron R., Lin, Ling, Krueger, Darcy, Franz, David N., Thiele, Elizabeth A., Sahin, Mustafa, Kwiatkowski, David J.
Publicado 2015

Everolimus dosing recommendations for tuberous sclerosis complex–associated refractory seizures

por Franz, David N., Lawson, John A., Yapici, Zuhal, Brandt, Christian, Kohrman, Michael H., Wong, Michael, Milh, Mathieu, Wiemer‐Kruel, Adelheid, Voi, Maurizio, Coello, Neva, Cheung, Wing, Grosch, Kai, French, Jacqueline A.
Publicado 2018

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

por Franz, David N., Lawson, John A., Yapici, Zuhal, Ikeda, Hiroko, Polster, Tilman, Nabbout, Rima, Curatolo, Paolo, de Vries, Petrus J., Dlugos, Dennis J., Voi, Maurizio, Fan, Jenna, Vaury, Alexandra, Pelov, Diana, French, Jacqueline A.
Publicado 2018

Long-Term Use of Everolimus in Patients with Tuberous Sclerosis Complex: Final Results from the EXIST-1 Study

por 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
Publicado 2016