1. Diminished muscle oxygen uptake and fatigue in spinal muscular atrophy. Issue 5 (31st March 2021) Authors: Montes, Jacqueline; Goodwin, Ashley M.; McDermott, Michael P.; Uher, David; Hernandez, Feliz Marie; Coutts, Kayla; Cocchi, Julia; Hauschildt, Margarethe; Cornett, Kayla M.; Rao, Ashwini K.; Monani, Umrao R.; Ewing Garber, Carol; De Vivo, Darryl C. Journal: Annals of clinical and translational neurology Issue: Volume 8:Issue 5(2021) Page Start: 1086 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group. Issue 3 (13th August 2020) Authors: 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... Journal: Epilepsia open Issue: Volume 5:Issue 3(2020) Page Start: 354 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Spectrum of Neuropathophysiology in Spinal Muscular Atrophy Type I. Issue 1 (January 2015) Authors: Harding, Brian N.; Kariya, Shingo; Monani, Umrao R.; Chung, Wendy K.; Benton, Maryjane; Yum, Sabrina W.; Tennekoon, Gihan; Finkel, Richard S. Journal: Journal of neuropathology and experimental neurology Issue: Volume 74:Issue 1(2015:Jan.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Spectrum of Neuropathophysiology in Spinal Muscular Atrophy Type I. Issue 1 (January 2015) Authors: Harding, Brian N.; Kariya, Shingo; Monani, Umrao R.; Chung, Wendy K.; Benton, Maryjane; Yum, Sabrina W.; Tennekoon, Gihan; Finkel, Richard S. Journal: Journal of neuropathology and experimental neurology Issue: Volume 74:Issue 1(2015:Jan.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Therapeutic strategies for glucose transporter 1 deficiency syndrome. Issue 9 (28th August 2019) Authors: Tang, Maoxue; Park, Sarah H.; De Vivo, Darryl C.; Monani, Umrao R. Journal: Annals of clinical and translational neurology Issue: Volume 6:Issue 9(2019) Page Start: 1923 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗