Alpers–Huttenlocher syndrome: the role of a multidisciplinary health care team

por Saneto, Russell P
Publicado 2016

Mitochondrial diseases: expanding the diagnosis in the era of genetic testing

por Saneto, Russell P.
Publicado 2020

The genetics of Leigh syndrome and its implications for clinical practice and risk management

por Ruhoy, Ilene S, Saneto, Russell P
Publicado 2014

Onset of action and seizure control in Lennox-Gaustaut syndrome: focus on rufinamide

por Saneto, Russell P, Anderson, Gail D
Publicado 2009

Mitochondria-Associated Membrane Scaffolding with Endoplasmic Reticulum: A Dynamic Pathway of Developmental Disease

por Saneto, Russell P., Perez, Francisco A.
Publicado 2022

Epileptic spasms as the presenting seizure type in a patient with a new “O” of TORCH, congenital Zika virus infection

por Lockrow, Jason, Tully, Hannah, Saneto, Russell P.
Publicado 2018

Cerebral Visual Impairment Characterized by Abnormal Visual Orienting Behavior With Preserved Visual Cortical Activation

por Kelly, John P., Phillips, James O., Saneto, Russell P., Khalatbari, Hedieh, Poliakov, Andrew, Tarczy-Hornoch, Kristina, Weiss, Avery H.
Publicado 2021

Dose-Ranging Effect of Adjunctive Oral Cannabidiol vs Placebo on Convulsive Seizure Frequency in Dravet Syndrome: A Randomized Clinical Trial

por Miller, Ian, Scheffer, Ingrid E., Gunning, Boudewijn, Sanchez-Carpintero, Rocio, Gil-Nagel, Antonio, Perry, M. Scott, Saneto, Russell P., Checketts, Daniel, Dunayevich, Eduardo, Knappertz, Volker
Publicado 2020

A randomized, double‐blind trial of triheptanoin for drug‐resistant epilepsy in glucose transporter 1 deficiency syndrome

por Striano, Pasquale, Auvin, Stéphane, Collins, Abigail, Horvath, Rita, Scheffer, Ingrid E., Tzadok, Michal, Miller, Ian, Kay Koenig, Mary, Lacy, Adrian, Davis, Ronald, Garcia‐Cazorla, Angela, Saneto, Russell P., Brandabur, Melanie, Blair, Susan, Koutsoukos, Tony, De Vivo, Darryl
Publicado 2022

Correction: Ketogenic diet as a glycine lowering therapy in nonketotic hyperglycinemia and impact on brain glycine levels

por Shelkowitz, Emily, Saneto, Russell P., Al-Hertani, Walla, Lubout, Charlotte M. A., Stence, Nicholas V., Brown, Mark S., Long, Patrick, Walleigh, Diana, Nelson, Julie A., Perez, Francisco E., Shaw, Dennis W. W., Michl, Emma J., Van Hove, Johan L. K.
Publicado 2023

Ketogenic diet as a glycine lowering therapy in nonketotic hyperglycinemia and impact on brain glycine levels

por Shelkowitz, Emily, Saneto, Russell P., Al-Hertani, Walla, Lubout, Charlotte M. A., Stence, Nicholas V., Brown, Mark S., Long, Patrick, Walleigh, Diana, Nelson, Julie A., Perez, Francisco E., Shaw, Dennis W. W., Michl, Emma J., Van Hove, Johan L. K.
Publicado 2022

Why West? Comparisons of clinical, genetic and molecular features of infants with and without spasms

por Berg, Anne T., Chakravorty, Samya, Koh, Sookyong, Grinspan, Zachary M., Shellhaas, Renée A., Saneto, Russell P., Wirrell, Elaine C., Coryell, Jason, Chu, Catherine J., Mytinger, John R., Gaillard, William D., Valencia, Ignacio, Knupp, Kelly G., Loddenkemper, Tobias, Sullivan, Joseph E., Poduri, Annapurna, Millichap, John J., Keator, Cynthia, Wusthoff, Courtney, Ryan, Nicole, Dobyns, William B., Hegde, Madhuri
Publicado 2018

Targeting ferroptosis: A novel therapeutic strategy for the treatment of mitochondrial disease-related epilepsy

por Kahn-Kirby, Amanda H., Amagata, Akiko, Maeder, Celine I., Mei, Janet J., Sideris, Steve, Kosaka, Yuko, Hinman, Andrew, Malone, Stephanie A., Bruegger, Joel J., Wang, Leslie, Kim, Virna, Shrader, William D., Hoff, Kevin G., Latham, Joey C., Ashley, Euan A., Wheeler, Matthew T., Bertini, Enrico, Carrozzo, Rosalba, Martinelli, Diego, Dionisi-Vici, Carlo, Chapman, Kimberly A., Enns, Gregory M., Gahl, William, Wolfe, Lynne, Saneto, Russell P., Johnson, Simon C., Trimmer, Jeffrey K., Klein, Matthew B., Holst, Charles R.
Publicado 2019

Mitochondrial diseases in North America: An analysis of the NAMDC Registry

por Barca, Emanuele, Long, Yuelin, Cooley, Victoria, Schoenaker, Robert, Emmanuele, Valentina, DiMauro, Salvatore, Cohen, Bruce H., Karaa, Amel, Vladutiu, Georgirene D., Haas, Richard, Van Hove, Johan L.K., Scaglia, Fernando, Parikh, Sumit, Bedoyan, Jirair K., DeBrosse, Susanne D., Gavrilova, Ralitza H., Saneto, Russell P., Enns, Gregory M., Stacpoole, Peter W., Ganesh, Jaya, Larson, Austin, Zolkipli-Cunningham, Zarazuela, Falk, Marni J., Goldstein, Amy C., Tarnopolsky, Mark, Gropman, Andrea, Camp, Kathryn, Krotoski, Danuta, Engelstad, Kristin, Rosales, Xiomara Q., Kriger, Joshua, Grier, Johnston, Buchsbaum, Richard, Thompson, John L.P., Hirano, Michio
Publicado 2020