Reye Syndrome

por De Vivo, Darryl C.
Publicado 1985

Therapeutic strategies for glucose transporter 1 deficiency syndrome

por Tang, Maoxue, Park, Sarah H., De Vivo, Darryl C., Monani, Umrao R.
Publicado 2019

Ethical Perspectives on Treatment Options with Spinal Muscular Atrophy Patients

por Yeo, Crystal J. J., Simmons, Zachary, De Vivo, Darryl C., Darras, Basil T.
Publicado 2022

Paroxysmal eye–head movements in Glut1 deficiency syndrome

por Pearson, Toni S., Pons, Roser, Engelstad, Kristin, Kane, Steven A., Goldberg, Michael E., De Vivo, Darryl C.
Publicado 2017

Exploring triheptanoin as treatment for short chain enoyl CoA hydratase deficiency

por Engelstad, Kristin, Salazar, Rachel, Koenigsberger, Dorcas, Stackowtiz, Erin, Brodlie, Susan, Brandabur, Melanie, De Vivo, Darryl C.
Publicado 2021

Exploring mTOR inhibition as treatment for mitochondrial disease

por Sage‐Schwaede, Abigail, Engelstad, Kristin, Salazar, Rachel, Curcio, Angela, Khandji, Alexander, Garvin Jr, James H., De Vivo, Darryl C.
Publicado 2019

Exploring diazoxide and continuous glucose monitoring as treatment for Glut1 deficiency syndrome

por Logel, Santhi N., Connor, Ellen L., Hsu, David A., Fenske, Rachel J., Paloian, Neil J., De Vivo, Darryl C.
Publicado 2021

A De Novo Mutation in MTND6 Causes Generalized Dystonia in 2 Unrelated Children

por Kurt, Yasemin Gulcan, Çoku, Jorida, Akman, H. Orhan, Naini, Ali, Lu, Jesheng, Engelstad, Kristin, Hirano, Michio, De Vivo, Darryl C., DiMauro, Salvatore
Publicado 2016

Distribution of weight, stature, and growth status in children and adolescents with spinal muscular atrophy: An observational retrospective study in the United States

por Darras, Basil T., Guye, Sabrina, Hoffart, Janine, Schneider, Sophie, Gravestock, Isaac, Gorni, Ksenija, Fuerst‐Recktenwald, Sabine, Scalco, Renata S., Finkel, Richard S., De Vivo, Darryl C.
Publicado 2022

Results from a phase 1 study of nusinersen (ISIS-SMN(Rx)) in children with spinal muscular atrophy

por Chiriboga, Claudia A., Swoboda, Kathryn J., Darras, Basil T., Iannaccone, Susan T., Montes, Jacqueline, De Vivo, Darryl C., Norris, Daniel A., Bennett, C. Frank, Bishop, Kathie M.
Publicado 2016

Visual memory failure presages conversion to MELAS phenotype

por Leaffer, Emily B., De Vivo, Darryl C., Engelstad, Kristin, Fryer, Robert H., Gu, Yian, Shungu, Dikoma C., Hirano, Michio, DiMauro, Salvatore, Hinton, Veronica J.
Publicado 2022

Single-Blind, Randomized, Controlled Clinical Trial of Exercise in Ambulatory Spinal Muscular Atrophy: Why are the Results Negative?

por Montes, Jacqueline, Garber, Carol Ewing, Kramer, Samantha S., Montgomery, Megan J., Dunaway, Sally, Kamil-Rosenberg, Shirit, Carr, Brendan, Cruz, Rosangel, Strauss, Nancy E., Sproule, Douglas, De Vivo, Darryl C.
Publicado 2015

Measuring Fatigue and Fatigability in Spinal Muscular Atrophy (SMA): Challenges and Opportunities

por Rodriguez-Torres, Rafael S., Uher, David, Gay, Emma L., Coratti, Giorgia, Dunaway Young, Sally, Rohwer, Annemarie, Muni Lofra, Robert, De Vivo, Darryl C., Hirano, Michio, Glynn, Nancy W., Montes, Jacqueline
Publicado 2023

Longitudinal natural history of type I spinal muscular atrophy: a critical review

por Mercuri, Eugenio, Lucibello, Simona, Perulli, Marco, Coratti, Giorgia, de Sanctis, Roberto, Pera, Maria Carmela, Pane, Marika, Montes, Jacqueline, de Vivo, Darryl C., Darras, Basil T., Kolb, Stephen J., Finkel, Richard S.
Publicado 2020

Scientific rationale for a higher dose of nusinersen

por Finkel, Richard S., Ryan, Monique M., Pascual Pascual, Samuel Ignacio, Day, John W., Mercuri, Eugenio, De Vivo, Darryl C., Foster, Richard, Montes, Jacqueline, Gurgel‐Giannetti, Juliana, MacCannell, Drew, Berger, Zdenek
Publicado 2022

Nusinersen Treatment of Children with Later-Onset Spinal Muscular Atrophy and Scoliosis Is Associated with Improvements or Stabilization of Motor Function †

por Dunaway Young, Sally, Montes, Jacqueline, Glanzman, Allan M., Gee, Richard, Day, John W., Finkel, Richard S., Darras, Basil T., De Vivo, Darryl C., Gambino, Giulia, Foster, Richard, Wong, Janice, Garafalo, Steve, Berger, Zdenek
Publicado 2023

DEVOTE Study Exploring Higher Dose of Nusinersen in Spinal Muscular Atrophy: Study Design and Part A Results

por Finkel, Richard S., Day, John W., Pascual Pascual, Samuel Ignacio, Ryan, Monique M., Mercuri, Eugenio, De Vivo, Darryl C., Montes, Jacqueline, Gurgel-Giannetti, Juliana, Monine, Michael, Gambino, Giulia, Makepeace, Corinne, Foster, Richard, Berger, Zdenek
Publicado 2023

Combination disease‐modifying treatment in spinal muscular atrophy: A proposed classification

por Proud, Crystal M., Mercuri, Eugenio, Finkel, Richard S., Kirschner, Janbernd, De Vivo, Darryl C., Muntoni, Francesco, Saito, Kayoko, Tizzano, Eduardo F., Desguerre, Isabelle, Quijano‐Roy, Susana, Benguerba, Kamal, Raju, Dheeraj, Faulkner, Eric, Servais, Laurent
Publicado 2023

VAC14 syndrome in two siblings with retinitis pigmentosa and neurodegeneration with brain iron accumulation

por Lyon, Gholson J., Marchi, Elaine, Ekstein, Joseph, Meiner, Vardiella, Hirsch, Yoel, Scher, Sholem, Yang, Edward, De Vivo, Darryl C., Madrid, Ricardo, Li, Quan, Wang, Kai, Haworth, Andrea, Chilton, Ilana, Chung, Wendy K., Velinov, Milen
Publicado 2019

Nusinersen improves walking distance and reduces fatigue in later‐onset spinal muscular atrophy

por Montes, Jacqueline, Dunaway Young, Sally, Mazzone, Elena S., Pasternak, Amy, Glanzman, Allan M., Finkel, Richard S., Darras, Basil T., Muntoni, Francesco, Mercuri, Eugenio, De Vivo, Darryl C., Bishop, Kathie M., Schneider, Eugene, Bennett, C. Frank, Foster, Richard, Farwell, Wildon
Publicado 2019