Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes (MELAS): A Case Report and Critical Reappraisal of Treatment Options von Fryer, Robert H., MD, PhD, Bain, Jennifer M., MD, PhD, De Vivo, Darryl C., MD

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Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study von Finkel, Richard S, Dr, Chiriboga, Claudia A, MD, Vajsar, Jiri, MD, Day, John W, MD, Montes, Jacqueline, EdD, De Vivo, Darryl C, MD, Yamashita, Mason, MD, Rigo, Frank, PhD, Hung, Gene, MD, Schneider, Eugene, MD, Norris, Daniel A, PhD, Xia, Shuting, MS, Bennett, C Frank, PhD, Bishop, Kathie M, PhD

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Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study von De Vivo, Darryl C., Bertini, Enrico, Swoboda, Kathryn J., Hwu, Wuh-Liang, Crawford, Thomas O., Finkel, Richard S., Kirschner, Janbernd, Kuntz, Nancy L., Parsons, Julie A., Ryan, Monique M., Butterfield, Russell J., Topaloglu, Haluk, Ben-Omran, Tawfeg, Sansone, Valeria A., Jong, Yuh-Jyh, Shu, Francy, Staropoli, John F., Kerr, Douglas, Sandrock, Alfred W., Stebbins, Christopher, Petrillo, Marco, Braley, Gabriel, Johnson, Kristina, Foster, Richard, Gheuens, Sarah, Bhan, Ishir, Reyna, Sandra P., Fradette, Stephanie, Farwell, Wildon

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Revised upper limb module for spinal muscular atrophy: Development of a new module von Mazzone, Elena S., Mayhew, Anna, Montes, Jacqueline, Ramsey, Danielle, Fanelli, Lavinia, Young, Sally Dunaway, Salazar, Rachel, De Sanctis, Roberto, Pasternak, Amy, Glanzman, Allan, Coratti, Giorgia, Civitello, Matthew, Forcina, Nicola, Gee, Richard, Duong, Tina, Pane, Marika, Scoto, Mariacristina, Pera, Maria Carmela, Messina, Sonia, Tennekoon, Gihan, Day, John W., Darras, Basil T., Vivo, Darryl C., Finkel, Richard, Muntoni, Francesco, Mercuri, Eugenio

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N -acetylaspartate supports the energetic demands of developmental myelination via oligodendroglial aspartoacylase von Francis, Jeremy S., PhD, Wojtas, Ireneusz, PhD, Markov, Vladimir, MD, Gray, Steven J., PhD, McCown, Thomas J., PhD, Samulski, R. Jude, PhD, Bilaniuk, Larissa T., MD, Wang, Dah-Jyuu, PhD, De Vivo, Darryl C., MD, Janson, Christopher G., MD, Leone, Paola, PhD

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GLUT1 reductions exacerbate Alzheimer's disease vasculo-neuronal dysfunction and degeneration von Winkler, Ethan A, Nishida, Yoichiro, Sagare, Abhay P, Rege, Sanket V, Bell, Robert D, Perlmutter, David, Sengillo, Jesse D, Hillman, Sara, Kong, Pan, Nelson, Amy R, Sullivan, John S, Zhao, Zhen, Meiselman, Herbert J, Wenby, Rosalinda B, Soto, Jamie, Abel, E Dale, Makshanoff, Jacob, Zuniga, Edward, De Vivo, Darryl C, Zlokovic, Berislav V

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Observational study of spinal muscular atrophy type I and implications for clinical trials von Finkel, Richard S, McDermott, Michael P, Kaufmann, Petra, Darras, Basil T, Chung, Wendy K, Sproule, Douglas M, Kang, Peter B, Foley, A Reghan, Yang, Michelle L, Martens, William B, Oskoui, Maryam, Glanzman, Allan M, Flickinger, Jean, Montes, Jacqueline, Dunaway, Sally, OʼHagen, Jessica, Quigley, Janet, Riley, Susan, Benton, Maryjane, Ryan, Patricia A, Montgomery, Megan, Marra, Jonathan, Gooch, Clifton, De Vivo, Darryl C

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Independent Mobility After Early Introduction of a Power Wheelchair in Spinal Muscular Atrophy von Dunaway, Sally, Montes, Jacqueline, O’Hagen, Jessica, Sproule, Douglas M., Vivo, Darryl C. De, Kaufmann, Petra

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Ambulatory function in spinal muscular atrophy: Age-related patterns of progression von Montes, Jacqueline, McDermott, Michael P, Mirek, Elizabeth, Mazzone, Elena S, Main, Marion, Glanzman, Allan M, Duong, Tina, Young, Sally Dunaway, Salazar, Rachel, Pasternak, Amy, Gee, Richard, De Sanctis, Roberto, Coratti, Giorgia, Forcina, Nicola, Fanelli, Lavinia, Ramsey, Danielle, Milev, Evelin, Civitello, Matthew, Pane, Marika, Pera, Maria Carmela, Scoto, Mariacristina, Day, John W, Tennekoon, Gihan, Finkel, Richard S, Darras, Basil T, Muntoni, Francesco, De Vivo, Darryl C, Mercuri, Eugenio

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

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Pilot study of population-based newborn screening for spinal muscular atrophy in New York state von Kraszewski, Jennifer N, Kay, Denise M, Stevens, Colleen F, Koval, Carrie, Haser, Bianca, Ortiz, Veronica, Albertorio, Anthony, Cohen, Lilian L, Jain, Ritu, Andrew, Sarah P, Young, Sally Dunaway, LaMarca, Nicole M, De Vivo, Darryl C, Caggana, Michele, Chung, Wendy K

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The spectrum of movement disorders in Glut-1 deficiency von Pons, Roser, Collins, Abbie, Rotstein, Michael, Engelstad, Kristin, De Vivo, Darryl C

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Phenotypic Spectrum of Glucose Transporter Type 1 Deficiency Syndrome (Glut1 DS) von Pearson, Toni S., Akman, Cigdem, Hinton, Veronica J., Engelstad, Kristin, De Vivo, Darryl C.

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Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group von Klepper, Joerg, Akman, Cigdem, Armeno, Marisa, Auvin, Stéphane, Cervenka, Mackenzie, Cross, Helen J., De Giorgis, Valentina, Della Marina, Adela, Engelstad, Kristin, Heussinger, Nicole, Kossoff, Eric H., Leen, Wilhelmina G., Leiendecker, Baerbel, Monani, Umrao R., Oguni, Hirokazu, Neal, Elizabeth, Pascual, Juan M., Pearson, Toni S., Pons, Roser, Scheffer, Ingrid E., Veggiotti, Pierangelo, Willemsen, Michél, Zuberi, Sameer M., De Vivo, Darryl C.

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Brain microvasculature defects and Glut1 deficiency syndrome averted by early repletion of the glucose transporter-1 protein von Tang, Maoxue, Gao, Guangping, Rueda, Carlos B., Yu, Hang, Thibodeaux, David N., Awano, Tomoyuki, Engelstad, Kristin M., Sanchez-Quintero, Maria-Jose, Yang, Hong, Li, Fanghua, Li, Huapeng, Su, Qin, Shetler, Kara E., Jones, Lynne, Seo, Ryan, McConathy, Jonathan, Hillman, Elizabeth M., Noebels, Jeffrey L., De Vivo, Darryl C., Monani, Umrao R.

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Neurofilament as a potential biomarker for spinal muscular atrophy von Darras, Basil T., Crawford, Thomas O., Finkel, Richard S., Mercuri, Eugenio, De Vivo, Darryl C., Oskoui, Maryam, Tizzano, Eduardo F., Ryan, Monique M., Muntoni, Francesco, Zhao, Guolin, Staropoli, John, McCampbell, Alexander, Petrillo, Marco, Stebbins, Christopher, Fradette, Stephanie, Farwell, Wildon, Sumner, Charlotte J.

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Glucose transporter type I deficiency syndrome: Epilepsy phenotypes and outcomes von Pong, Amanda W., Geary, Brianna R., Engelstad, Kris M., Natarajan, Ashwini, Yang, Hong, De Vivo, Darryl C.

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Long-Term Clinical Course of Glut1 Deficiency Syndrome von Alter, Aliza S., Engelstad, Kristin, Hinton, Veronica J., Montes, Jacqueline, Pearson, Toni S., Akman, Cigdem I., De Vivo, Darryl C.

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Determining minimal clinically important differences in the Hammersmith Functional Motor Scale Expanded for untreated spinal muscular atrophy patients: An international study von Coratti, Giorgia, Bovis, Francesca, Pera, Maria Carmela, Scoto, Mariacristina, Montes, Jacqueline, Pasternak, Amy, Mayhew, Anna, Muni‐Lofra, Robert, Duong, Tina, Rohwer, Annemarie, Dunaway Young, Sally, Civitello, Matthew, Salmin, Francesca, Mizzoni, Irene, Morando, Simone, Pane, Marika, Albamonte, Emilio, D'Amico, Adele, Brolatti, Noemi, Sframeli, Maria, Marini‐Bettolo, Chiara, Sansone, Valeria Ada, Bruno, Claudio, Messina, Sonia, Bertini, Enrico, Baranello, Giovanni, Day, John, Darras, Basil T., De Vivo, Darryl C., Hirano, Michio, Muntoni, Francesco, Finkel, Richard, Mercuri, Eugenio, Antonaci, Laura, De Sanctis, Roberto, Carnicella, Sara, Forcina, Nicola, Norcia, Giulia, Stanca, Giulia, Fanelli, Lavinia, De Luca, Giacomo, Carlesi, Adelina, Colia, Giulia, Bravetti, Chiara, Rossi, Diletta, Rodriguez‐Torres, Rafael

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Seizure Characterization and Electroencephalographic Features in Glut‐1 Deficiency Syndrome von Leary, Linda D., Wang, Dong, Nordli, Douglas R., Engelstad, Kristin, De Vivo, Darryl C.

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