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

le Vahdat, Khashayar K., Ilias-Basha, Haseeb, Tung, Poyee P., Memon, Nada B., Hall, Andrea C., Koenig, Mary K., Meyers, Deborah E.
Foilsithe in 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

le Chao, Yu-Hsin, Robak, Laurie A., Xia, Fan, Koenig, Mary K., Adesina, Adekunle, Bacino, Carlos A., Scaglia, Fernando, Bellen, Hugo J., Wangler, Michael F.
Foilsithe in Hum Mol Genet (2016)

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

le 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
Foilsithe in Neurology (2020)

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

le 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
Foilsithe in J Clin Med (2019)

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

le 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.
Foilsithe in Hum Mutat (2020)

RARS1‐related hypomyelinating leukodystrophy: Expanding the spectrum

le 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.
Foilsithe in Ann Clin Transl Neurol (2019)

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

le 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
Foilsithe in Am J Hum Genet (2020)