Motor Responses in Pediatric Pompe Disease in the ADVANCE Participant Cohort

por Duong, Tina, Kishnani, Priya S., An Haack, Kristina, Foster, Meredith C., Gibson, James B., Wilson, Catherine, Hahn, Si Houn, Hillman, Richard, Kronn, David, Leslie, Nancy D., Peña, Loren D.M., Sparks, Susan E., Stockton, David W., Tanpaiboon, Pranoot, Day, John W.
Publicado 2022

Further evidence for the involvement of EFL1 in a Shwachman–Diamond-like syndrome and expansion of the phenotypic features

por Tan, Queenie K.-G., Cope, Heidi, Spillmann, Rebecca C., Stong, Nicholas, Jiang, Yong-Hui, McDonald, Marie T., Rothman, Jennifer A., Butler, Megan W., Frush, Donald P., Lachman, Ralph S., Lee, Brendan, Bacino, Carlos A., Bonner, Melanie J., McCall, Chad M., Pendse, Avani A., Walley, Nicole, Shashi, Vandana, Pena, Loren D.M.
Publicado 2018

Long-term Safety and Efficacy of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease

por Dimachkie, Mazen M., Barohn, Richard J., Byrne, Barry, Goker-Alpan, Ozlem, Kishnani, Priya S., Ladha, Shafeeq, Laforêt, Pascal, Mengel, Karl Eugen, Peña, Loren D.M., Sacconi, Sabrina, Straub, Volker, Trivedi, Jaya, Van Damme, Philip, van der Ploeg, Ans T., Vissing, John, Young, Peter, Haack, Kristina An, Foster, Meredith, Gilbert, Jane M., Miossec, Patrick, Vitse, Olivier, Zhou, Tianyue, Schoser, Benedikt
Publicado 2022

Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases

por Pena, Loren DM, Jiang, Yong-Hui, Schoch, Kelly, Spillmann, Rebecca C., Walley, Nicole, Stong, Nicholas, Horn, Sarah Rapisardo, Sullivan, Jennifer A., McConkie-Rosell, Allyn, Kansagra, Sujay, Smith, Edward C., El-Dairi, Mays, Bellet, Jane, Ann Keels, Martha, Jasien, Joan, Kranz, Peter G., Noel, Richard, Nagaraj, Shashi K., Lark, Robert K., Wechsler, Daniel SG, del Gaudio, Daniela, Leung, Marco L., Hendon, Laura G., Parker, Collette C., Jones, Kelly L., Goldstein, David B., Shashi, Vandana
Publicado 2017

Clinical Delineation and Natural History of the PIK3CA-Related Overgrowth Spectrum**

por Keppler-Noreuil, Kim M, Sapp, Julie C, Lindhurst, Marjorie J, Parker, Victoria ER, Blumhorst, Cathy, Darling, Thomas, Tosi, Laura L, Huson, Susan M, Whitehouse, Richard W, Jakkula, Eveliina, Grant, Ian, Balasubramanian, Meena, Chandler, Kate E, Fraser, Jamie L, Gucev, Zoran, Crow, Yanick J, Brennan, Leslie Manace, Clark, Robin, Sellars, Elizabeth A, Pena, Loren DM, Krishnamurty, Vidya, Shuen, Andrew, Braverman, Nancy, Cunningham, Michael L, Sutton, V Reid, Tasic, Velibor, Graham, John M, Geer, Joseph, Henderson, Alex, Semple, Robert K, Biesecker, Leslie G
Publicado 2014