Synoptic control over winter snowfall variability observed in a remote site of Apennine Mountains (Italy), 1884–2015 by V. Capozzi, C. De Vivo, G. Budillon

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Rescue and quality control of sub-daily meteorological data collected at Montevergine Observatory (Southern Apennines), 1884–1963 by V. Capozzi, Y. Cotroneo, P. Castagno, C. De Vivo, G. Budillon

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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

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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

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Exploring diazoxide and continuous glucose monitoring as treatment for Glut1 deficiency syndrome by Santhi N. Logel, Ellen L. Connor, David A. Hsu, Rachel J. Fenske, Neil J. Paloian, Darryl C. De Vivo

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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

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Visual memory failure presages conversion to MELAS phenotype by Emily B. Leaffer, Darryl C. De Vivo, Kristin Engelstad, Robert H. Fryer, Yian Gu, Dikoma C. Shungu, Michio Hirano, Salvatore DiMauro, Veronica J. Hinton

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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

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Scientific rationale for a higher dose of nusinersen by Richard S. Finkel, Monique M. Ryan, Samuel Ignacio Pascual Pascual, John W. Day, Eugenio Mercuri, Darryl C. De Vivo, Richard Foster, Jacqueline Montes, Juliana Gurgel‐Giannetti, Drew MacCannell, Zdenek Berger

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Combination disease‐modifying treatment in spinal muscular atrophy: A proposed classification by Crystal M. Proud, Eugenio Mercuri, Richard S. Finkel, Janbernd Kirschner, Darryl C. De Vivo, Francesco Muntoni, Kayoko Saito, Eduardo F. Tizzano, Isabelle Desguerre, Susana Quijano‐Roy, Kamal Benguerba, Dheeraj Raju, Eric Faulkner, Laurent Servais

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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

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Quantitative determination of SLC2A1 variant functional effects in GLUT1 deficiency syndrome by Naeimeh Tayebi, Brian Leon‐Ricardo, Kevin McCall, Elvisa Mehinovic, Kristin Engelstad, Vincent Huynh, Tychele N. Turner, Judy Weisenberg, Liu L. Thio, Paul Hruz, Robin S. B. Williams, Darryl C. De Vivo, Vincent Petit, Gabe Haller, Christina A. Gurnett

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Long-term efficacy, safety, and patient-reported outcomes of apitegromab in patients with spinal muscular atrophy: results from the 36-month TOPAZ study by Thomas O. Crawford, John W. Day, Darryl C. De Vivo, Jena M. Krueger, Eugenio Mercuri, Eugenio Mercuri, Andres Nascimento, Amy Pasternak, Elena Stacy Mazzone, Tina Duong, Guochen Song, Jing L. Marantz, Scott Baver, Dongzi Yu, Lan Liu, Basil T. Darras

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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

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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

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The clinical spectrum of SMA‐PME and in vitro normalization of its cellular ceramide profile by Michelle M. Lee, Graeme S. V. McDowell, Darryl C. De Vivo, Daniel Friedman, Samuel F. Berkovic, Maria Spanou, Argirios Dinopoulos, Katheryn Grand, Pedro A. Sanchez‐Lara, Michelle Allen‐Sharpley, Jodi Warman‐Chardon, Alexander Solyom, Thierry Levade, Edward H. Schuchman, Steffany A. L. Bennett, David A. Dyment, Toni S. Pearson

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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

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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

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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

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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

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