Ventricular arrhythmias and acute left ventricular dysfunction as a primary and life-threatening manifestation of a mitochondrial crisis: A novel management strategy

Por Vahdat, Khashayar K., Ilias-Basha, Haseeb, Tung, Poyee P., Memon, Nada B., Hall, Andrea C., Koenig, Mary K., Meyers, Deborah E.
Publicado no J Cardiol Cases (2012)

Missense variants in the middle domain of DNM1L in cases of infantile encephalopathy alter peroxisomes and mitochondria when assayed in Drosophila

Por Chao, Yu-Hsin, Robak, Laurie A., Xia, Fan, Koenig, Mary K., Adesina, Adekunle, Bacino, Carlos A., Scaglia, Fernando, Bellen, Hugo J., Wangler, Michael F.
Publicado no Hum Mol Genet (2016)

Safety and efficacy of omaveloxolone in patients with mitochondrial myopathy: MOTOR trial

Por Madsen, Karen L., Buch, Astrid E., Cohen, Bruce H., Falk, Marni J., Goldsberry, Angela, Goldstein, Amy, Karaa, Amel, Koenig, Mary K., Muraresku, Colleen C., Meyer, Colin, O'Grady, Megan, Scaglia, Fernando, Shieh, Perry B., Vockley, Jerry, Zolkipli-Cunningham, Zarazuela, Haller, Ronald G., Vissing, John
Publicado no Neurology (2020)

Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants

Por Rius, Rocio, Van Bergen, Nicole J., Compton, Alison G., Riley, Lisa G., Kava, Maina P., Balasubramaniam, Shanti, Amor, David J., Fanjul-Fernandez, Miriam, Cowley, Mark J., Fahey, Michael C., Koenig, Mary K., Enns, Gregory M., Sadedin, Simon, Wilson, Meredith J., Tan, Tiong Y., Thorburn, David R., Christodoulou, John
Publicado no J Clin Med (2019)

BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability and autism spectrum disorder

Por Scott, Tiana M., Guo, Hui, Eichler, Evan E., Rosenfeld, Jill A., Pang, Kaifang, Liu, Zhandong, Lalani, Seema, Weimin, Bi, Yang, Yaping, Bacino, Carlos A., Streff, Haley, Lewis, Andrea M., Koenig, Mary K., Thiffault, Isabelle, Bellomo, Allison, Everman, David B., Jones, Julie R., Stevenson, Roger E., Bernier, Raphael, Gilissen, Christian, Pfundt, Rolph, Hiatt, Susan M., Cooper, Gregory M., Holder, Jimmy L., Scott, Daryl A.
Publicado no Hum Mutat (2020)

RARS1‐related hypomyelinating leukodystrophy: Expanding the spectrum

Por Mendes, Marisa I., Green, Lydia M. C., Bertini, Enrico, Tonduti, Davide, Aiello, Chiara, Smith, Desiree, Salsano, Ettore, Beerepoot, Shanice, Hertecant, Jozef, von Spiczak, Sarah, Livingston, John H., Emrick, Lisa, Fraser, Jamie, Russell, Laura, Bernard, Genevieve, Magri, Stefania, Di Bella, Daniela, Taroni, Franco, Koenig, Mary K., Moroni, Isabella, Cappuccio, Gerarda, Brunetti‐Pierri, Nicola, Rhee, Jullie, Mendelsohn, Bryce A., Helbig, Ingo, Helbig, Katherine, Muhle, Hiltrud, Ismayl, Omar, Vanderver, Adeline L., Salomons, Gajja S., van der Knaap, Marjo S., Wolf, Nicole I.
Publicado no Ann Clin Transl Neurol (2019)

De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation

Por Mao, Dongxue, Reuter, Chloe M., Ruzhnikov, Maura R.Z., Beck, Anita E., Farrow, Emily G., Emrick, Lisa T., Rosenfeld, Jill A., Mackenzie, Katherine M., Robak, Laurie, Wheeler, Matthew T., Burrage, Lindsay C., Jain, Mahim, Liu, Pengfei, Calame, Daniel, Küry, Sébastien, Sillesen, Martin, Schmitz-Abe, Klaus, Tonduti, Davide, Spaccini, Luigina, Iascone, Maria, Genetti, Casie A., Koenig, Mary K., Graf, Madeline, Tran, Alyssa, Alejandro, Mercedes, Lee, Brendan H., Thiffault, Isabelle, Agrawal, Pankaj B., Bernstein, Jonathan A., Bellen, Hugo J., Chao, Hsiao-Tuan
Publicado no Am J Hum Genet (2020)