Not logged in Proprioceptive synaptic dysfunction is a key feature in mice and humans with spinal muscular atrophy Simon, Christian M.; Delestree, Nicolas; Montes, Jacqueline; Sowoidnich, Leonie; Gerstner, Florian; Carranza, Erick; Buettner, Jannik M.; Pagiazitis, John G.; Prat-Ortega, Genis; Ensel, Scott; Donadio, Serena; Dreilich, Vanessa; Carlini, Maria J.; Garcia, Jose L.; Kratimenos, Panagiotis; Chung, Wendy K.; Sumner, Charlotte J.; Weimer, Louis H.; Pirondini, Elvira; Capogrosso, Marco; Pellizzoni, Livio; De Vivo, Darryl C.; Mentis, George Z. Share Save
Share Save
The influence of genotype on the natural history of types 1-3 spinal muscular atrophy Sutherland, C. Simone; Schneider, Sophie; Ribero, Valerie Aponte; Simpson, Alex; Kokaliaris, Christos; Scalco, Renata S.; Guittari, Carol Jean; Gorni, Ksenija; De Vivo, Darryl C.; Martens, William B.; Karrer, Teresa M. Share Save
Share Save
Spinal Muscular Atrophy Update in Best Practices Schroth, Mary; Deans, Jennifer; Arya, Kapil; Castro, Diana; De Vivo, Darryl C.; Gibbons, Melissa A.; Ionita, Cristian; Kuntz, Nancy L.; Lakhotia, Arpita; Knierbein, Erin Neil; Scoto, Mariacristina; Sejersen, Thomas; Servais, Laurent; Tian, Cuixia; Waldrop, Megan A.; Vazquez-Costa, Juan F. Share Save
Therapeutic Role of Nusinersen on Respiratory Progression in Pediatric Patients With Spinal Muscular Atrophy Type 2 and Nonambulant Type 3 Trucco, Federica; Ridout, Deborah; Weststrate, Harriet; Scoto, Mariacristina; Rohwer, Annemarie; Coratti, Giorgia; Main, Marion L.; Mayhew, Anna G.; Montes, Jacqueline; De Sanctis, Roberto; Pane, Marika; Pera, Maria Carmela; Sansone, Valeria A.; Albamonte, Emilio; D'Amico, Adele; Bruno, Claudio; Messina, Sonia S.; Childs, Anne-Marie; Willis, Tracey; Ong, Min T.; Servais, Laurent; Majumdar, Anirban; Hughes, Imelda; Marini-Bettolo, Chiara; Parasuraman, Deepak; Gowda, Vasantha L.; Baranello, Giovanni; Bertini, Enrico S.; De Vivo, Darryl C.; Darras, Basil T.; Day, John W.; Mayer, Oscar; Zolkipli-Cunningham, Zarazuela; Finkel, Richard S.; Mercuri, Eugenio; Muntoni, Francesco Share Save
Triheptanoin Did Not Show Benefit versus Placebo for the Treatment of Paroxysmal Movement Disorders in Glut1 Deficiency Syndrome: Results of a Randomized Phase 3 Study De Giorgis, Valentina; Bhatia, Kailash P.; Boespflug-Tanguy, Odile; Gras, Domitille; Marina, Adela Della; Desurkar, Archana; Toledo, Manuel; Miller, Ian; Rotstein, Michael; Schneider, Susanne A.; Tarquinio, Daniel C.; Weber, Yvonne; Brandabur, Melanie; Mayhew, Jill; Koutsoukos, Tony; De Vivo, Darryl C. Share Save
Beyond Contractures in Spinal Muscular Atrophy: Identifying Lower-Limb Joint Hypermobility Harding, Elizabeth R.; Kanner, Cara H.; Pasternak, Amy; Glanzman, Allan M.; Young, Sally Dunaway; Rao, Ashwini K.; McDermott, Michael P.; Zolkipli-Cunningham, Zarazuela; Day, John W.; Finkel, Richard S.; Darras, Basil T.; De Vivo, Darryl C.; Montes, Jacqueline Share Save
Disease Trajectories in the Revised Hammersmith Scale in a Cohort of Untreated Patients with Spinal Muscular Atrophy types 2 and 3 Wolfe, Amy; Stimpson, Georgia; Ramsey, Danielle; Coratti, Giorgia; Young, Sally Dunaway; Mayhew, Anna; Pane, Marika; Rohwer, Annemarie; Lofra, Robert Muni; Duong, Tina; O'Reilly, Emer; Milev, Evelin; Civitello, Matthew; Sansone, Valeria A.; D'Amico, Adele; Bertini, Enrico; Messina, Sonia; Bruno, Claudio; Albamonte, Emilio; Mazzone, Elena; Main, Marion; Montes, Jacqueline; Glanzman, Allan M.; Zolkipli-Cunningham, Zarazuela; Pasternak, Amy; Marini-Bettolo, Chiara; Day, John W.; Darras, Basil T.; De Vivo, Darryl C.; Baranello, Giovanni; Scoto, Mariacristina; Finkel, Richard S.; Mercuri, Eugenio; Muntoni, Francesco Share Save
Low Bone Mass in Ambulatory Spinal Muscular Atrophy: A Proactive Approach for an Often-Overlooked Impairment Trancho, Caitlin; Stickney, Bailey; Kinirons, Stacy; Uher, David; Kanner, Cara H.; Rao, Ashwini K.; Mcdermott, Michael P.; Garber, Carol Ewing; De Vivo, Darryl C.; Montes, Jacqueline Share Save
Real-World Outcomes in Patients with Spinal Muscular Atrophy Treated with Onasemnogene Abeparvovec Monotherapy: Findings from the RESTORE Registry Servais, Laurent; Day, John W.; De Vivo, Darryl C.; Kirschner, Janbernd; Mercuri, Eugenio; Muntoni, Francesco; Proud, Crystal M.; Shieh, Perry B.; Tizzano, Eduardo F.; Quijano-Roy, Susana; Desguerre, Isabelle; Saito, Kayoko; Faulkner, Eric; Benguerba, Kamal M.; Raju, Dheeraj; LaMarca, Nicole; Sun, Rui; Anderson, Frederick A.; Finkel, Richard S. Share Save
Combination disease-modifying treatment in spinal muscular atrophy: A proposed classification Proud, Crystal M.; Mercuri, Eugenio; Finkel, Richard S.; Kirschner, Janbernd; De Vivo, Darryl C.; Muntoni, Francesco; Saito, Kayoko; Tizzano, Eduardo F.; Desguerre, Isabelle; Quijano-Roy, Susana; Benguerba, Kamal; Raju, Dheeraj; Faulkner, Eric; Servais, Laurent Share Save
Nusinersen Treatment of Children with Later-Onset Spinal Muscular Atrophy and Scoliosis Is Associated with Improvements or Stabilization of Motor Function Young, Sally Dunaway; Montes, Jacqueline; Glanzman, Allan M.; Gee, Richard; Day, John W.; Finkel, Richard S.; Darras, Basil T.; De Vivo, Darryl C.; Gambino, Giulia; Foster, Richard; Wong, Janice; Garafalo, Steve; Berger, Zdenek Share Save
Prospective Multicenter Validation of a Simple Blood Test for the Diagnosis of Glut1 Deficiency Syndrome Mochel, Fanny; Gras, Domitille; Luton, Marie-Pierre; Nizou, Manon; Giovannini, Donatella; Delattre, Caroline; Aubart, Melodie; Barth, Magalie; De Saint-Martin, Anne; Doummar, Diane; Essid, Nouha; Garros, Alexa; Le Camus, Caroline Hachon; Hoebeke, Celia; Tich, Sylvie Nguyen The; Perivier, Maximilien; Rivera, Serge; Rolland, Anne; Roubertie, Agathe; Sarret, Catherine; Sevin, Caroline; Ville, Dorothee; Sitbon, Marc; Costa, Jean-Marc; Pons, Roser; Garcia-Cazorla, Angels; Vuillaumier, Sandrine; Petit, Vincent C.; Boespflug-Tanguy, Odile; De Vivo, Darryl Share Save
The emerging spectrum of fetal acetylcholine receptor antibody-related disorders (FARAD) Allen, Nicholas M.; O'Rahelly, Mark; Eymard, Bruno; Chouchane, Mondher; Hahn, Andreas; Kearns, Gerry; Kim, Dae-Seong; Byun, Shin Yun; Nguyen, Cam-Tu Emilie; Schara-Schmidt, Ulrike; Koelbel, Heike; Della Marina, Adela; Schneider-Gold, Christiane; Roefke, Kathryn; Thieme, Andrea; Van den Bergh, Peter; Avalos, Gloria; Alvarez-Velasco, Rodrigo; Natera-de Benito, Daniel; Cheng, Man Hin Mark; Chan, Wing Ki; Wan, Hoi Shan; Thomas, Mary Ann; Borch, Lauren; Lauzon, Julie; Kornblum, Cornelia; Reimann, Jens; Mueller, Andreas; Kuntzer, Thierry; Norwood, Fiona; Ramdas, Sithara; Jacobson, Leslie W.; Jie, Xiaobo; Fernandez-Garcia, Miguel A.; Wraige, Elizabeth; Lim, Ming; Lin, Jean Pierre; Claeys, Kristl G.; Aktas, Selma; Oskoui, Maryam; Hacohen, Yael; Masud, Ameneh; Leite, M. Isabel; Palace, Jacqueline; De Vivo, Darryl; Vincent, Angela; Jungbluth, Heinz Share Save
Measuring Fatigue and Fatigability in Spinal Muscular Atrophy (SMA): Challenges and Opportunities Rodriguez-Torres, Rafael S.; Uher, David; Gay, Emma L.; Coratti, Giorgia; Young, Sally Dunaway; Rohwer, Annemarie; Muni Lofra, Robert; De Vivo, Darryl C.; Hirano, Michio; Glynn, Nancy W.; Montes, Jacqueline Share Save
Treatments and Outcomes for Patients with Spinal Muscular Atrophy Type 2: Findings from RESTORE Registry Servais, Laurent; Benguerba, Kamal; De Vivo, Darryl C.; Kirschner, Jan; Muntoni, Francesco; Proud, Crystal; Tizzano, Eduardo; Quijano-Roy, Susana; Desguerre, Isabelle; Saito, Kyoko; Raju, Dheeraj; LaMarca, Nicole; Sun, Rui; Anderson, Fred; Faulkner, Eric; Finkel, Richard Share Save
Quantitative determination of SLC2A1 variant functional effects in GLUT1 deficiency syndrome Tayebi, Naeimeh; Leon-Ricardo, Brian; McCall, Kevin; Mehinovic, Elvisa; Engelstad, Kristin; Huynh, Vincent; Turner, Tychele N.; Weisenberg, Judy; Thio, Liu L.; Hruz, Paul; Williams, Robin S. B.; De Vivo, Darryl C.; Petit, Vincent; Haller, Gabe; Gurnett, Christina A. Share Save
2-Year Change in Revised Hammersmith Scale Scores in a Large Cohort of Untreated Paediatric Type 2 and 3 SMA Participants Stimpson, Georgia; Ramsey, Danielle; Wolfe, Amy; Mayhew, Anna; Scoto, Mariacristina; Baranello, Giovanni; Muni Lofra, Robert; Main, Marion; Milev, Evelin; Coratti, Giorgia; Pane, Marika; Sansone, Valeria; D'Amico, Adele; Bertini, Enrico; Messina, Sonia; Bruno, Claudio; Albamonte, Emilio; Mazzone, Elena Stacy; Montes, Jacqueline; Glanzman, Allan M.; Zolkipli-Cunningham, Zarazuela; Pasternak, Amy; Duong, Tina; Dunaway Young, Sally; Civitello, Matthew; Marini-Bettolo, Chiara; Day, John W.; Darras, Basil T.; De Vivo, Darryl C.; Finkel, Richard S.; Mercuri, Eugenio; Muntoni, Francesco Share Save
DEVOTE Study Exploring Higher Dose of Nusinersen in Spinal Muscular Atrophy: Study Design and Part A Results Finkel, Richard S.; Day, John W.; Pascual Pascual, Samuel Ignacio; Ryan, Monique M.; Mercuri, Eugenio; De Vivo, Darryl C.; Montes, Jacqueline; Gurgel-Giannetti, Juliana; Monine, Michael; Gambino, Giulia; Makepeace, Corinne; Foster, Richard; Berger, Zdenek Share Save
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
Share.png){kind=icon}
Save
Not logged in.png){kind=icon}
