Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Jonathon M. Silberstein"'
Autor:
Gali Heimer, Juha M. Kerätär, Lisa G. Riley, Shanti Balasubramaniam, Eran Eyal, Laura P. Pietikäinen, J. Kalervo Hiltunen, Dina Marek-Yagel, Jeffrey Hamada, Allison Gregory, Caleb Rogers, Penelope Hogarth, Martha A. Nance, Nechama Shalva, Alvit Veber, Michal Tzadok, Andreea Nissenkorn, Davide Tonduti, Florence Renaldo, Ichraf Kraoua, Celeste Panteghini, Lorella Valletta, Barbara Garavaglia, Mark J. Cowley, Velimir Gayevskiy, Tony Roscioli, Jonathon M. Silberstein, Chen Hoffmann, Annick Raas-Rothschild, Valeria Tiranti, Yair Anikster, John Christodoulou, Alexander J. Kastaniotis, Bruria Ben-Zeev, Susan J. Hayflick, Michael J. Bamshad, Suzanne M. Leal, Deborah A. Nickerson, Peter Anderson, Marcus Annable, Elizabeth Marchani Blue, Kati J. Buckingham, Jennifer Chin, Jessica X. Chong, Rodolfo Cornejo, Colleen P. Davis, Christopher Frazar, Zongxiao He, Gail P. Jarvik, Guillaume Jimenez, Eric Johanson, Tom Kolar, Stephanie A. Krauter, Daniel Luksic, Colby T. Marvin, Sean McGee, Daniel J. McGoldrick, Karynne Patterson, Marcos Perez, Sam W. Phillips, Jessica Pijoan, Peggy D. Robertson, Regie Santos-Cortez, Aditi Shankar, Krystal Slattery, Kathryn M. Shively, Deborah L. Siegel, Joshua D. Smith, Monica Tackett, Gao Wang, Marc Wegener, Jeffrey M. Weiss, Riana I. Wernick, Marsha M. Wheeler, Qian Yi
Publikováno v:
The American Journal of Human Genetics. 99:1229-1244
Mitochondrial fatty acid synthesis (mtFAS) is an evolutionarily conserved pathway essential for the function of the respiratory chain and several mitochondrial enzyme complexes. We report here a unique neurometabolic human disorder caused by defectiv
Autor:
Jinal Patel, David R. Thorburn, Steven A. Carr, Alison G. Compton, Caroline Köhrer, Matthew McKenzie, Jacob D. Jaffe, Sarah E. Calvo, Jonathon M. Silberstein, Uttam L. RajBhandary, Olga Goldberger, Steven G. Hershman, Vamsi K. Mootha, Michael T. Ryan, John Christodoulou, Elena J. Tucker, Casey A. Belcher-Timme
Publikováno v:
Cell Metabolism. 14(3):428-434
The metazoan mitochondrial translation machinery is unusual in having a single tRNA(Met) that fulfills the dual role of the initiator and elongator tRNA(Met). A portion of the Met-tRNA(Met) pool is formylated by mitochondrial methionyl-tRNA formyltra
Autor:
Alpana Kulkarni, Emma Louise Carty, S S Gubbay, Peter Walsh, Lakshmi Nagarajan, Pauline Bernadette Gregory, Wendy Rosemary Dimitroff, Jonathon M. Silberstein, Ernst Peter Silberstein, Linda Palumbo-Clark
Publikováno v:
Pediatric Neurology. 29:222-226
This study evaluates the characteristics of photoparoxysmal responses elicited with intermittent photic stimulation during a routine electroencephalogram in childhood and correlated this with the clinical profile of the child. Photoparoxysmal respons
Autor:
Peter Walsh, Byron Kakulas, E. Peter J. Silberstein, S. Jongpiputvanich, Sonny S. Gubbay, T. Kyriakides, Jonathon M. Silberstein
Publikováno v:
Muscle & Nerve. 16:418-423
In the course of investigating children with hypotonia, muscle biopsy of the vastus lateralis frequently demonstrates greater than 55% predominance of the aerobic type 1 fibers of "type 1 fiber predominance" (T1FP). The clinical significance of T1FP
Autor:
Elena J. Tucker, Steven G. Hershman, Uttam L. RajBhandary, Vamsi K. Mootha, Jonathon M. Silberstein, Casey A. Belcher-Timme, David R. Thorburn, Steven A. Carr, Jinal Patel, Caterina Garone, Olga Goldberger, Sarah E. Calvo, John Christodoulou, Matthew McKenzie, Jacob D. Jaffe, Caroline Köhrer, Michael T. Ryan, Salvatore DiMauro, Alison G. Compton, Beatriz Garcia-Diaz
Publikováno v:
Mitochondrion. 12:583