Therapeutic strategies for glucose transporter 1 deficiency syndrome

by Maoxue Tang, Sarah H. Park, Darryl C. De Vivo, Umrao R. Monani
Published 2019-09-01

Mitochondrial Morphology and Intracellular Calcium Homeostasis in Cytochrome Oxidase-Deficient Human Fibroblasts

by Shawn D. Handran, John L. Werth, Darryl C. DeVivo, Steven M. Rothman
Published 1997-01-01

Exploring triheptanoin as treatment for short chain enoyl CoA hydratase deficiency

by Kristin Engelstad, Rachel Salazar, Dorcas Koenigsberger, Erin Stackowtiz, Susan Brodlie, Melanie Brandabur, Darryl C. De Vivo
Published 2021-05-01

Exploring mTOR inhibition as treatment for mitochondrial disease

by Abigail Sage‐Schwaede, Kristin Engelstad, Rachel Salazar, Angela Curcio, Alexander Khandji, James H. Garvin Jr, Darryl C. De Vivo
Published 2019-09-01

Murine Glut-1 transporter haploinsufficiency: Postnatal deceleration of brain weight and reactive astrocytosis

by Paivi M. Ullner, Alessia Di Nardo, James E. Goldman, Scott Schobel, Hong Yang, Kristin Engelstad, Dong Wang, Mustafa Sahin, Darryl C. De Vivo
Published 2009-10-01

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

by Eugenio Mercuri, Simona Lucibello, Marco Perulli, Giorgia Coratti, Roberto de Sanctis, Maria Carmela Pera, Marika Pane, Jacqueline Montes, Darryl C. de Vivo, Basil T. Darras, Stephen J. Kolb, Richard S. Finkel
Published 2020-04-01

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

by Yasemin Gulcan Kurt MD, Jorida Çoku MS, H. Orhan Akman PhD, Ali Naini PhD, Jesheng Lu PhD, Kristin Engelstad MS, Michio Hirano MD, Darryl C. De Vivo MD, Salvatore DiMauro MD
Published 2016-03-01

Diminished muscle oxygen uptake and fatigue in spinal muscular atrophy

by Jacqueline Montes, Ashley M. Goodwin, Michael P. McDermott, David Uher, Feliz Marie Hernandez, Kayla Coutts, Julia Cocchi, Margarethe Hauschildt, Kayla M. Cornett, Ashwini K. Rao, Umrao R. Monani, Carol Ewing Garber, Darryl C. De Vivo
Published 2021-05-01

An early endothelial cell–specific requirement for Glut1 is revealed in Glut1 deficiency syndrome model mice

by Maoxue Tang, Sarah H. Park, Sabrina Petri, Hang Yu, Carlos B. Rueda, E. Dale Abel, Carla Y. Kim, Elizabeth M.C. Hillman, Fanghua Li, Yeojin Lee, Lei Ding, Smitha Jagadish, Wayne N. Frankel, Darryl C. De Vivo, Umrao R. Monani
Published 2021-02-01

Neurofilament as a potential biomarker for spinal muscular atrophy

by Basil T. Darras, Thomas O. Crawford, Richard S. Finkel, Eugenio Mercuri, Darryl C. De Vivo, Maryam Oskoui, Eduardo F. Tizzano, Monique M. Ryan, Francesco Muntoni, Guolin Zhao, John Staropoli, Alexander McCampbell, Marco Petrillo, Christopher Stebbins, Stephanie Fradette, Wildon Farwell, Charlotte J. Sumner
Published 2019-05-01

N-acetylaspartate supports the energetic demands of developmental myelination via oligodendroglial aspartoacylase

by Jeremy S. Francis, PhD, Ireneusz Wojtas, PhD, Vladimir Markov, MD, Steven J. Gray, PhD, Thomas J. McCown, PhD, R. Jude Samulski, PhD, Larissa T. Bilaniuk, MD, Dah-Jyuu Wang, PhD, Darryl C. De Vivo, MD, Christopher G. Janson, MD, Paola Leone, PhD
Published 2016-12-01

Brain microvasculature defects and Glut1 deficiency syndrome averted by early repletion of the glucose transporter-1 protein

by Maoxue Tang, Guangping Gao, Carlos B. Rueda, Hang Yu, David N. Thibodeaux, Tomoyuki Awano, Kristin M. Engelstad, Maria-Jose Sanchez-Quintero, Hong Yang, Fanghua Li, Huapeng Li, Qin Su, Kara E. Shetler, Lynne Jones, Ryan Seo, Jonathan McConathy, Elizabeth M. Hillman, Jeffrey L. Noebels, Darryl C. De Vivo, Umrao R. Monani
Published 2017-01-01

Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group

by Joerg Klepper, Cigdem Akman, Marisa Armeno, Stéphane Auvin, Mackenzie Cervenka, Helen J. Cross, Valentina De Giorgis, Adela Della Marina, Kristin Engelstad, Nicole Heussinger, Eric H. Kossoff, Wilhelmina G. Leen, Baerbel Leiendecker, Umrao R. Monani, Hirokazu Oguni, Elizabeth Neal, Juan M. Pascual, Toni S. Pearson, Roser Pons, Ingrid E. Scheffer, Pierangelo Veggiotti, Michél Willemsen, Sameer M. Zuberi, Darryl C. De Vivo
Published 2020-09-01

Ambulatory function in spinal muscular atrophy: Age-related patterns of progression.

by Jacqueline Montes, Michael P McDermott, Elizabeth Mirek, Elena S Mazzone, Marion Main, Allan M Glanzman, Tina Duong, Sally Dunaway Young, Rachel Salazar, Amy Pasternak, Richard Gee, Roberto De Sanctis, Giorgia Coratti, Nicola Forcina, Lavinia Fanelli, Danielle Ramsey, Evelin Milev, Matthew Civitello, Marika Pane, Maria Carmela Pera, Mariacristina Scoto, John W Day, Gihan Tennekoon, Richard S Finkel, Basil T Darras, Francesco Muntoni, Darryl C De Vivo, Eugenio Mercuri
Published 2018-01-01

SMA-MAP: a plasma protein panel for spinal muscular atrophy.

by Dione T Kobayashi, Jing Shi, Laurie Stephen, Karri L Ballard, Ruth Dewey, James Mapes, Brett Chung, Kathleen McCarthy, Kathryn J Swoboda, Thomas O Crawford, Rebecca Li, Thomas Plasterer, Cynthia Joyce, Biomarkers for Spinal Muscular Atrophy Study Group, Wendy K Chung, Petra Kaufmann, Basil T Darras, Richard S Finkel, Douglas M Sproule, William B Martens, Michael P McDermott, Darryl C De Vivo, Pediatric Neuromuscular Clinical Research Network, Michael G Walker, Karen S Chen
Published 2013-01-01

Nusinersen in pediatric and adult patients with type III spinal muscular atrophy

by Maria Carmela Pera, Giorgia Coratti, Francesca Bovis, Marika Pane, Amy Pasternak, Jacqueline Montes, Valeria A. Sansone, Sally Dunaway Young, Tina Duong, Sonia Messina, Irene Mizzoni, Adele D’Amico, Matthew Civitello, Allan M. Glanzman, Claudio Bruno, Francesca Salmin, Simone Morando, Roberto De Sanctis, Maria Sframeli, Laura Antonaci, Anna Lia Frongia, Annemarie Rohwer, Mariacristina Scoto, Darryl C. De Vivo, Basil T. Darras, John Day, William Martens, Katia A. Patanella, Enrico Bertini, Francesco Muntoni, Richard Finkel, Eugenio Mercuri, the iSMAC group
Published 2021-08-01