Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study
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
Published in The Lancet (British edition) (17.12.2016)
Published in The Lancet (British edition) (17.12.2016)
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Ambulatory function in spinal muscular atrophy: Age-related patterns of progression
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
Published in PloS one (26.06.2018)
Published in PloS one (26.06.2018)
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Disruption of Glut1 in Hematopoietic Stem Cells Prevents Myelopoiesis and Enhanced Glucose Flux in Atheromatous Plaques of ApoE−/− Mice
Sarrazy, Vincent, Viaud, Manon, Westerterp, Marit, Ivanov, Stoyan, Giorgetti-Peraldi, Sophie, Guinamard, Rodolphe, Gautier, Emmanuel L, Thorp, Edward B, De Vivo, Darryl C, Yvan-Charvet, Laurent
Published in Circulation research (01.04.2016)
Published in Circulation research (01.04.2016)
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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
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
Published in Neuromuscular disorders : NMD (01.11.2019)
Published in Neuromuscular disorders : NMD (01.11.2019)
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GLUT1 reductions exacerbate Alzheimer's disease vasculo-neuronal dysfunction and degeneration
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, Wendy, Rosalinda B, Soto, Jamie, Abel, E Dale, Makshanoff, Jacob, Zuniga, Edward, De Vivo, Darryl C, Zlokovic, Berislav V
Published in Nature neuroscience (01.04.2015)
Published in Nature neuroscience (01.04.2015)
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Observational study of spinal muscular atrophy type I and implications for clinical trials
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, O'Hagen, Jessica, Quigley, Janet, Riley, Susan, Benton, Maryjane, Ryan, Patricia A, Montgomery, Megan, Marra, Jonathan, Gooch, Clifton, De Vivo, Darryl C
Published in Neurology (26.08.2014)
Published in Neurology (26.08.2014)
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Revised upper limb module for spinal muscular atrophy: Development of a new module
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
Published in Muscle & nerve (01.06.2017)
Published in Muscle & nerve (01.06.2017)
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Pilot study of population-based newborn screening for spinal muscular atrophy in New York state
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
Published in Genetics in medicine (01.06.2018)
Published in Genetics in medicine (01.06.2018)
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The spectrum of movement disorders in Glut-1 deficiency
Pons, Roser, Collins, Abbie, Rotstein, Michael, Engelstad, Kristin, De Vivo, Darryl C
Published in Movement disorders (15.02.2010)
Published in Movement disorders (15.02.2010)
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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
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
Published in European journal of neurology (01.08.2024)
Published in European journal of neurology (01.08.2024)
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Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group
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.
Published in Epilepsia open (01.09.2020)
Published in Epilepsia open (01.09.2020)
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N -acetylaspartate supports the energetic demands of developmental myelination via oligodendroglial aspartoacylase
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
Published in Neurobiology of disease (01.12.2016)
Published in Neurobiology of disease (01.12.2016)
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Longitudinal natural history of type I spinal muscular atrophy: a critical review
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
Published in Orphanet journal of rare diseases (05.04.2020)
Published in Orphanet journal of rare diseases (05.04.2020)
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Neurofilament as a potential biomarker for spinal muscular atrophy
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.
Published in Annals of clinical and translational neurology (01.05.2019)
Published in Annals of clinical and translational neurology (01.05.2019)
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Brain microvasculature defects and Glut1 deficiency syndrome averted by early repletion of the glucose transporter-1 protein
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
Published in Nature communications (20.01.2017)
Published in Nature communications (20.01.2017)
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Glucose transporter type I deficiency syndrome: Epilepsy phenotypes and outcomes
Pong, Amanda W., Geary, Brianna R., Engelstad, Kris M., Natarajan, Ashwini, Yang, Hong, De Vivo, Darryl C.
Published in Epilepsia (Copenhagen) (01.09.2012)
Published in Epilepsia (Copenhagen) (01.09.2012)
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Long-term clinical course of Glut1 deficiency syndrome
Alter, Aliza S, Engelstad, Kristin, Hinton, Veronica J, Montes, Jacqueline, Pearson, Toni S, Akman, Cigdem I, De Vivo, Darryl C
Published in Journal of child neurology (01.02.2015)
Published in Journal of child neurology (01.02.2015)
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