A Tale of Two Brothers: Familial Voltage-Gated Potassium Channel Autoimmune Encephalitis

por Gillespie, Lauren E, Dave, Amanda, Goldstein, Amy
Publicado 2020

A randomized crossover trial of elamipretide in adults with primary mitochondrial myopathy

por Karaa, Amel, Haas, Richard, Goldstein, Amy, Vockley, Jerry, Cohen, Bruce H.
Publicado 2020

Leigh Syndrome as a Phenotype of Near-Homoplasmic m.8344 A>G Variant in Children

por Russo, Sam Nicholas, Goldstein, Amy, Karaa, Amel, Koenig, Mary Kay, Walker, Melissa
Publicado 2021

Randomized dose-escalation trial of elamipretide in adults with primary mitochondrial myopathy

por Karaa, Amel, Haas, Richard, Goldstein, Amy, Vockley, Jerry, Weaver, W. Douglas, Cohen, Bruce H.
Publicado 2018

Endocrine Disorders in Primary Mitochondrial Disease

por Al-Gadi, Iman S, Haas, Richard H, Falk, Marni J, Goldstein, Amy, McCormack, Shana E
Publicado 2018

Primary mitochondrial disease in the US: Data from patients and physicians' perspective on health care delivery

por Karaa, Amel, Goldstein, Amy, Balcells, Cristy, Mann, Kira, Stanley, Laura, Yeske, Philip E., Parikh, Sumit
Publicado 2019

ANT2-defective fibroblasts exhibit normal mitochondrial bioenergetics

por Prabhu, Dolly, Goldstein, Amy C., El-Khoury, Riyad, Rak, Malgorzata, Edmunds, Lia, Rustin, Pierre, Vockley, Jerry, Schiff, Manuel
Publicado 2015

Use of Elamipretide in patients assigned treatment in the compassionate use program: Case series in pediatric patients with rare orphan diseases

por Koenig, Mary Kay, Russo, Sam Nick, McBride, Kim L., Bjornsson, Hans Tomas, Gunnarsdottir, Brynja Bjork, Goldstein, Amy, Falk, Scott A.
Publicado 2022

Addiction Medicine Practice-Based Research Network (AMNet): Assessment Tools and Quality Measures

por Clarke, Diana E, Ibrahim, Adila, Doty, Benjamin, Patel, Sejal, Gibson, Debbie, Pagano, Anna, Thompson, Laura, Goldstein, Amy B, Vocci, Frank, Schwartz, Robert P
Publicado 2021

BTK inhibition limits B-cell–T-cell interaction through modulation of B-cell metabolism: implications for multiple sclerosis therapy

por Li, Rui, Tang, Hao, Burns, Jeremy C., Hopkins, Brian T., Le Coz, Carole, Zhang, Bo, de Barcelos, Isabella Peixoto, Romberg, Neil, Goldstein, Amy C., Banwell, Brenda L., Luning Prak, Eline T., Mingueneau, Michael, Bar-Or, Amit
Publicado 2022

Characterization of the renal phenotype in RMND1‐related mitochondrial disease

por Shayota, Brian J., Le, Nhon T., Bekheirnia, Nasim, Rosenfeld, Jill A., Goldstein, Amy C., Moritz, Michael, Bartholomew, Dennis W., Pastore, Matthew T., Xia, Fan, Eng, Christine, Yang, Yaping, Lamb, Dolores J., Scaglia, Fernando, Braun, Michael C., Bekheirnia, Mir Reza
Publicado 2019

Mitochondrial single-stranded DNA binding protein novel de novo SSBP1 mutation in a child with single large-scale mtDNA deletion (SLSMD) clinically manifesting as Pearson, Kearns-S...

por Gustafson, Margaret A., McCormick, Elizabeth M., Perera, Lalith, Longley, Matthew J., Bai, Renkui, Kong, Jianping, Dulik, Matthew, Shen, Lishuang, Goldstein, Amy C., McCormack, Shana E., Laskin, Benjamin L., Leroy, Bart P., Ortiz-Gonzalez, Xilma R., Ellington, Meredith G., Copeland, William C., Falk, Marni J.
Publicado 2019

Optimized Nutrition in Mitochondrial Disease Correlates to Improved Muscle Fatigue, Strength, and Quality of Life

por DiVito, Donna, Wellik, Amanda, Burfield, Jessica, Peterson, James, Flickinger, Jean, Tindall, Alyssa, Albanowski, Kimberly, Vishnubhatt, Shailee, MacMullen, Laura, Martin, Isaac, Muraresku, Colleen, McCormick, Elizabeth, George-Sankoh, Ibrahim, McCormack, Shana, Goldstein, Amy, Ganetzky, Rebecca, Yudkoff, Marc, Xiao, Rui, Falk, Marni J., R. Mascarenhas, Maria, Zolkipli-Cunningham, Zarazuela
Publicado 2023

A recurrent de novo missense mutation in UBTF causes developmental neuroregression

por Toro, Camilo, Hori, Roderick T, Malicdan, May Christine V, Tifft, Cynthia J, Goldstein, Amy, Gahl, William A, Adams, David R, Fauni, Harper B, Wolfe, Lynne A, Xiao, Jianfeng, Khan, Mohammad M, Tian, Jun, Hope, Kevin A, Reiter, Lawrence T, Tremblay, Michel G, Moss, Tom, Franks, Alexis L, Balak, Chris, LeDoux, Mark S
Publicado 2018

A recurrent de novo missense mutation in UBTF causes developmental neuroregression

por Toro, Camilo, Hori, Roderick T, Malicdan, May Christine V, Tifft, Cynthia J, Goldstein, Amy, Gahl, William A, Adams, David R, Fauni, Harper B, Wolfe, Lynne A, Xiao, Jianfeng, Khan, Mohammad M, Tian, Jun, Hope, Kevin A, Reiter, Lawrence T, Tremblay, Michel G, Moss, Tom, Franks, Alexis L, Balak, Chris, LeDoux, Mark S
Publicado 2018

Development of a Mitochondrial Myopathy-Composite Assessment Tool

por Flickinger, Jean, Fan, Jiaxin, Wellik, Amanda, Ganetzky, Rebecca, Goldstein, Amy, Muraresku, Colleen C., Glanzman, Allan M., Ballance, Elizabeth, Leonhardt, Kristin, McCormick, Elizabeth M., Soreth, Brianna, Nguyen, Sara, Gornish, Jennifer, George-Sankoh, Ibrahim, Peterson, James, MacMullen, Laura E., Vishnubhatt, Shailee, McBride, Michael, Haas, Richard, Falk, Marni J., Xiao, Rui, Zolkipli-Cunningham, Zarazuela
Publicado 2021

Characterization of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next generation sequencing study

por Mirzaa, Ghayda, Conti, Valerio, Timms, Andrew E., Smyser, Christopher D., Ahmed, Sarah, Carter, Melissa, Barnett, Sarah, Hufnagel, Robert B., Goldstein, Amy, Narumi-Kishimoto, Yoko, Olds, Carissa, Collins, Sarah, Johnston, Kathreen, Deleuze, Jean-François, Nitschké, Patrick, Friend, Kathryn, Harris, Catharine, Goetsch, Allison, Martin, Beth, Boyle, Evan August, Parrini, Elena, Mei, Davide, Tattini, Lorenzo, Slavotinek, Anne, Blair, Ed, Barnett, Christopher, Shendure, Jay, Chelly, Jamel, Dobyns, William B., Guerrini, Renzo
Publicado 2015

Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant

por Di Donato, Nataliya, Jean, Ying Y., Maga, A. Murat, Krewson, Briana D., Shupp, Alison B., Avrutsky, Maria I., Roy, Achira, Collins, Sarah, Olds, Carissa, Willert, Rebecca A., Czaja, Agnieszka M., Johnson, Rachel, Stover, Jessi A., Gottlieb, Steven, Bartholdi, Deborah, Rauch, Anita, Goldstein, Amy, Boyd-Kyle, Victoria, Aldinger, Kimberly A., Mirzaa, Ghayda M., Nissen, Anke, Brigatti, Karlla W., Puffenberger, Erik G., Millen, Kathleen J., Strauss, Kevin A., Dobyns, William B., Troy, Carol M., Jinks, Robert N.
Publicado 2016

Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy: The MMPOWER-3 Randomized Clinical Trial

por Karaa, Amel, Bertini, Enrico, Carelli, Valerio, Cohen, Bruce H., Enns, Gregory M., Falk, Marni J., Goldstein, Amy, Gorman, Gráinne 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
Publicado 2023

Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3′‐end processing

por Saoura, Makenzie, Powell, Christopher A., Kopajtich, Robert, Alahmad, Ahmad, AL‐Balool, Haya H., Albash, Buthaina, Alfadhel, Majid, Alston, Charlotte L., Bertini, Enrico, Bonnen, Penelope E., Bratkovic, Drago, Carrozzo, Rosalba, Donati, Maria A., Di Nottia, Michela, Ghezzi, Daniele, Goldstein, Amy, Haan, Eric, Horvath, Rita, Hughes, Joanne, Invernizzi, Federica, Lamantea, Eleonora, Lucas, Benjamin, Pinnock, Kyla‐Gaye, Pujantell, Maria, Rahman, Shamima, Rebelo‐Guiomar, Pedro, Santra, Saikat, Verrigni, Daniela, McFarland, Robert, Prokisch, Holger, Taylor, Robert W., Levinger, Louis, Minczuk, Michal
Publicado 2019