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Long-term safety of dexamethasone sodium phosphate encapsulated in autologous erythrocytes in pediatric patients with ataxia telangiectasia Koenig, Mary Kay; Leuzzi, Vincenzo; Gouider, Riadh; Yiu, Eppie M.; Pietrucha, Barbara; Stray-Pedersen, Asbjorg; Perlman, Susan L.; Wu, Steve; Burgers, Trudy; Borgohain, Rupam; Kandadai, Rukmini Mridula; Meyts, Isabelle; Bucciol, Giorgia; Udwadia-Hegde, Anaita; Roberts, Donna; Dane, Aaron; Roden, Maureen; Thye, Dirk; Horn, Biljana; Lederman, Howard M.; Whitehouse, William P. Share Save
Genotype-specific effects of elamipretide in patients with primary mitochondrial myopathy: a post hoc analysis of the MMPOWER-3 trial Karaa, Amel; Bertini, Enrico; Carelli, Valerio; Cohen, Bruce; Ennes, Gregory M.; Falk, Marni J.; Goldstein, Amy; Gorman, Grainne; Haas, Richard; Hirano, Michio; Klopstock, Thomas; Koenig, Mary Kay; Kornblum, Cornelia; Lamperti, Costanza; Lehman, Anna; Longo, Nicola; Molnar, Maria Judit; Parikh, Sumit; Phan, Han; Pitceathly, Robert D. S.; Saneto, Russekk; Scaglia, Fernando; Servidei, Serenella; Tarnopolsky, Mark; Toscano, Antonio; Van Hove, Johan L. K.; Vissing, John; Vockley, Jerry; Finman, Jeffrey S.; Abbruscato, Anthony; Brown, David A.; Sullivan, Alana; Shiffer, James A.; Mancuso, Michelango Share Save
Drug-Resistant Epilepsy in Tuberous Sclerosis Complex Is Associated With TSC2 Genotype: More Findings From the Preventing Epilepsy Using Vigatrin (PREVeNT) Trial Farach, Laura S.; Richard, Melissa A.; Wulsin, Aynara C.; Bebin, Elizabeth M.; Krueger, Darcy A.; Sahin, Mustafa; Porter, Brenda E.; Mcpherson, Tarrant O.; Peters, Jurriaan M.; O'Kelley, Sarah; Taub, Katherine S.; Rajaraman, Rajsekar; Randle, Stephanie C.; Mcclintock, William M.; Koenig, Mary Kay; Frost, Michael D.; Werner, Klaus; Nolan, Danielle A.; Wong, Michael; Cutter, Gary; Northrup, Hope; Au, Kit Sing Share Save
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Early Treatment with Vigabatrin Does Not Decrease Focal Seizures or Improve Cognition in Tuberous Sclerosis Complex: The PREVeNT Trial Bebin, Elizabeth Martina; Peters, Jurriaan M.; Porter, Brenda E.; McPherson, Tarrant O.; O'Kelley, Sarah; Sahin, Mustafa; Taub, Katherine S.; Rajaraman, Rajsekar; Randle, Stephanie C.; McClintock, William M.; Koenig, Mary Kay; Frost, Mike D.; Northrup, Hope A.; Werner, Klaus; Nolan, Danielle A.; Wong, Michael; Krefting, Jessica L.; Biasini, Fred; Peri, Kalyani; Cutter, Gary; Krueger, Darcy A. Share Save
Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy The MMPOWER-3 Randomized Clinical Trial Karaa, Amel; Bertini, Enrico; Carelli, Valerio; Cohen, Bruce H.; Enns, Gregory M.; Falk, Marni J.; Goldstein, Amy; Gorman, Grainne Siobhan; Haas, Richard; Hirano, Michio; Klopstock, Thomas; Koenig, Mary Kay; Kornblum, Cornelia; Lamperti, Costanza; Lehman, Anna; Longo, Nicola; Molnar, Maria Judit; Parikh, Sumit; Phan, Han; Pitceathly, Robert D. S.; Saneto, Russell; Scaglia, Fernando; Servidei, Serenella; Tarnopolsky, Mark; Toscano, Antonio; Van Hove, Johan L. K.; Vissing, John; Vockley, Jerry; Finman, Jeffrey S.; Brown, David A.; Shiffer, James A.; Mancuso, Michelango Share Save
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Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis Guerrini, Renzof; Mei, Davide; Kerti-Szigeti, Katalin; Pepe, Sara; Koenig, Mary Kay; Von Allmen, Gretchen; Cho, Megan T.; McDonald, Kimberly; Baker, Janice; Bhambhani, Vikas; Powis, Zoe; Rodan, Lance; Nabbout, Rima; Barcia, Giulia; Rosenfeld, Jill A.; Bacino, Carlos A.; Mignot, Cyril; Power, Lillian H.; Harris, Catharine J.; Marjanovic, Dragan; Moller, Rikke S.; Hammer, Trine B.; Keski Filppula, Riikka; Vieira, Paivi; Hildebrandt, Clara; Sacharow, Stephanie; Maragliano, Luca; Benfenati, Fabio; Lachlan, Katherine; Benneche, Andreas; Petit, Florence; de Sainte Agathe, Jean-Madeleine; Hallinan, Barbara; Si, Yue; Wentzensen, Ingrid M.; Zou, Fanggeng; Narayanan, Vinodh; Matsumoto, Naomichi; Boncristiano, Alessandra; la Marca, Giancarlo; Kato, Mitsuhiro; Anderson, Kristin; Barba, Carmen; Sturiale, Luisa; Garozzo, Domenico; Bei, Roberto; Masuelli, Laura; Conti, Valerio; Novarino, Gaia; Fassio, Anna Share Save
A randomized, double-blind trial of triheptanoin for drug-resistant epilepsy in glucose transporter 1 deficiency syndrome Striano, Pasquale; Auvin, Stephane; Collins, Abigail; Horvath, Rita; Scheffer, Ingrid E.; Tzadok, Michal; Miller, Ian; Koenig, Mary Kay; Lacy, Adrian; Davis, Ronald; Garcia-Cazorla, Angela; Saneto, Russell P.; Brandabur, Melanie; Blair, Susan; Koutsoukos, Tony; De Vivo, Darryl Share Save
DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome Stenton, Sarah L.; Tesarova, Marketa; Sheremet, Natalia L.; Catarino, Claudia; Carelli, Valerio; Ciara, Elzbieta; Curry, Kathryn; Engvall, Martin; Fleming, Leah R.; Freisinger, Peter; Iwanicka-Pronicka, Katarzyna; Jurkiewicz, Elzbieta; Klopstock, Thomas; Koenig, Mary K.; Kolarova, Hana; Kousal, Bohdan; Krylova, Tatiana; La Morgia, Chiara; Noskova, Lenka; Piekutowska-Abramczuk, Dorota; Russo, Sam N.; Stranecky, Viktor; Tothova, Iveta; Traisk, Frank; Prokisch, Holger Share Save
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Adult phenotype of KCNQ2 encephalopathy Boets, Stephanie; Johannesen, Katrine M.; Destree, Anne; Manti, Filippo; Ramantani, Georgia; Lesca, Gaetan; Vercueil, Laurent; Koenig, Mary Kay; Striano, Pasquale; Moller, Rikke Steensbjerre; Cooper, Edward; Weckhuysen, Sarah Share Save
De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism Sacoto, Maria J. Guillen; Tchasovnikarova, Iva A.; Torti, Erin; Forster, Cara; Andrew, E. Hallie; Anselm, Irina; Baranano, Kristin W.; Briere, Lauren C.; Cohen, Julie S.; Craigen, William J.; Cytrynbaum, Cheryl; Ekhilevitch, Nina; Elrick, Matthew J.; Fatemi, Ali; Fraser, Jamie L.; Gallagher, Renata C.; Guerin, Andrea; Haynes, Devon; High, Frances A.; Inglese, Cara N.; Kiss, Courtney; Koenig, Mary Kay; Krier, Joel; Lindstrom, Kristin; Marble, Michael; Meddaugh, Hannah; Moran, Ellen S.; Morel, Chantal F.; Mu, Weiyi; Muller, Eric A., II; Nance, Jessica; Natowicz, Marvin R.; Numis, Adam L.; Ostrem, Bridget; Pappas, John; Stafstrom, Carl E.; Streff, Haley; Sweetser, David A.; Szybowska, Marta; Walker, Melissa A.; Wang, Wei; Weiss, Karin; Weksberg, Rosanna; Wheeler, Patricia G.; Yoon, Grace; Kingston, Robert E.; Juusola, Jane Share Save
NUBPL mitochondrial disease: new patients and review of the genetic and clinical spectrum Kimonis, Virginia; al Dubaisi, Rehab; Maclean, Andrew E.; Hall, Kathy; Weiss, Lan; Stover, Alexander E.; Schwartz, Philip H.; Berg, Bethany; Cheng, Cheng; Parikh, Sumit; Conner, Blair R.; Wu, Sitao; Hasso, Anton N.; Scott, Daryl A.; Koenig, Mary Kay; Karam, Rachid; Tang, Sha; Smith, Moyra; Chao, Elizabeth; Balk, Janneke; Hatchwell, Eli; Eis, Peggy S. Share Save
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