Not logged in Share Save
Effects of HMG CoA reductase (HMGCR) deficiency on skeletal muscle development Gunasekaran, Mekala; Littel, Hannah R.; Wells, Natalya M.; Turner, Johnnie; Campos, Gloriana; Venigalla, Sree; Estrella, Elicia A.; Ghosh, Partha S.; Daugherty, Audrey L.; Stafki, Seth A.; Kunkel, Louis M.; Foley, A. Reghan; Donkervoort, Sandra; Bonnemann, Carsten G.; de Laguna, Laura Toledo-Bravo; Nascimento, Andres; Natera-de Benito, Daniel; Draper, Isabelle; Bruels, Christine C.; Pacak, Christina A.; Kang, Peter B. Share Save
Share Save
Share Save
Variants in DTNA cause a mild, dominantly inherited muscular dystrophy Nascimento, Andres; Bruels, Christine C.; Donkervoort, Sandra; Foley, A. Reghan; Codina, Anna; Milisenda, Jose C.; Estrella, Elicia A.; Li, Chengcheng; Pijuan, Jordi; Draper, Isabelle; Hu, Ying; Stafki, Seth A.; Pais, Lynn S.; Ganesh, Vijay S.; O'Donnell-Luria, Anne; Syeda, Safoora B.; Carrera-Garcia, Laura; Exposito-Escudero, Jessica; Yubero, Delia; Martorell, Loreto; Pinal-Fernandez, Iago; Lidov, Hart G. W.; Mammen, Andrew L.; Grau-Junyent, Josep M.; Ortez, Carlos; Palau, Francesc; Ghosh, Partha S.; Darras, Basil T.; Jou, Cristina; Kunkel, Louis M.; Hoenicka, Janet; Bonnemann, Carsten G.; Kang, Peter B.; Natera-de Benito, Daniel Share Save
Share Save
Diagnostic capabilities of nanopore long-read sequencing in muscular dystrophy Bruels, Christine C.; Littel, Hannah R.; Daugherty, Audrey L.; Stafki, Seth; Estrella, Elicia A.; McGaughy, Emily S.; Truong, Don; Badalamenti, Jonathan P.; Pais, Lynn; Ganesh, Vijay S.; O'Donnell-Luria, Anne; Stalker, Heather J.; Wang, Yang; Collins, Christin; Behlmann, Andrea; Lemmers, Richard J. L. F.; van der Maarel, Silvere M.; Laine, Regina; Ghosh, Partha S.; Darras, Basil T.; Zingariello, Carla D.; Pacak, Christina A.; Kunkel, Louis M.; Kang, Peter B. Share Save
Share Save
Share Save
POLRMT mutations impair mitochondrial transcription causing neurological disease Olahova, Monika; Peter, Bradley; Szilagyi, Zsolt; Diaz-Maldonado, Hector; Singh, Meenakshi; Sommerville, Ewen W.; Blakely, Emma L.; Collier, Jack J.; Hoberg, Emily; Stranecky, Viktor; Hartmannova, Hana; Bleyer, Anthony J.; McBride, Kim L.; Bowden, Sasigarn A.; Korandova, Zuzana; Pecinova, Alena; Ropers, Hans-Hilger; Kahrizi, Kimia; Najmabadi, Hossein; Tarnopolsky, Mark A.; Brady, Lauren I.; Weaver, K. Nicole; Prada, Carlos E.; Ounap, Katrin; Wojcik, Monica H.; Pajusalu, Sander; Syeda, Safoora B.; Pais, Lynn; Estrella, Elicia A.; Bruels, Christine C.; Kunkel, Louis M.; Kang, Peter B.; Bonnen, Penelope E.; Mracek, Tomas; Kmoch, Stanislav; Gorman, Grainne S.; Falkenberg, Maria; Gustafsson, Claes M.; Taylor, Robert W. Share Save
Applying genome-wide CRISPR-Cas9 screens for therapeutic discovery in facioscapulohumeral muscular dystrophy Lek, Angela; Zhang, Yuanfan; Woodman, Keryn G.; Huang, Shushu; DeSimone, Alec M.; Cohen, Justin; Ho, Vincent; Conner, James; Mead, Lillian; Kodani, Andrew; Pakula, Anna; Sanjana, Neville; King, Oliver D.; Jones, Peter L.; Wagner, Kathryn R.; Lek, Monkol; Kunkel, Louis M. Share Save
The SINE Compound KPT-350 Blocks Dystrophic Pathologies in DMD Zebrafish and Mice Hightower, Rylie M.; Reid, Andrea L.; Gibbs, Devin E.; Wang, Yimin; Widrick, Jeffrey J.; Kunkel, Louis M.; Kastenschmidt, Jenna M.; Villalta, S. Armando; van Groen, Thomas; Chang, Hua; Gornisiewicz, Savanna; Landesman, Yosef; Tamir, Sharon; Alexander, Matthew S. Share Save
Share Save
Share Save
Transgenic zebrafish model of DUX4 misexpression reveals a developmental role in FSHD pathogenesis Pakula, Anna; Lek, Angela; Widrick, Jeffrey; Mitsuhashi, Hiroaki; Gwilt, Katlynn M. Bugda; Gupta, Vandana A.; Rahimov, Fedik; Criscione, June; Zhang, Yuanfan; Gibbs, Devin; Murphy, Quinn; Manglik, Anusha; Mead, Lillian; Kunkel, Louis Share Save
A limb-girdle muscula dystrophy 21 model of muscular dystrophy identifies corrective drug compounds for dystroglycanopathies Serafini, Peter R.; Feyder, Michael J.; Hightower, Rylie M.; Garcia-Perez, Daniela; Vieira, Natassia M.; Lek, Angela; Gibbs, Devin E.; Moukha-Chafiq, Omar; Augelli-Szafran, Corinne E.; Kawahara, Genri; Widrick, Jeffrey J.; Kunkel, Louis M.; Alexander, Matthew S. Share Save
Repression of phosphatidylinositol transfer protein a ameliorates the pathology of Duchenne muscular dystrophy Vieira, Natassia M.; Spinazzola, Janelle M.; Alexander, Matthew S.; Moreira, Yuri B.; Kawahara, Genri; Gibbs, Devin E.; Mead, Lillian C.; Verjovski-Almeida, Sergio; Zatz, Mayana; Kunkel, Louis M. Share Save
CD82 Is a Marker for Prospective Isolation of Human Muscle Satellite Cells and Is Linked to Muscular Dystrophies Alexander, Matthew S.; Rozkalne, Anete; Colletta, Alessandro; Spinazzola, Janelle M.; Johnson, Samuel; Rahimov, Fedik; Meng, Hui; Lawlor, Michael W.; Estrella, Elicia; Kunkel, Louis M.; Gussoni, Emanuela Share Save
Reversal of neurobehavioral social deficits in dystrophic mice using inhibitors of phosphodiesterases PDE5A and PDE9A Alexander, M. S.; Gasperini, M. J.; Tsai, P. T.; Gibbs, D. E.; Spinazzola, J. M.; Marshall, J. L.; Feyder, M. J.; Pletcher, M. T.; Chekler, E. L. P.; Morris, C. A.; Sahin, M.; Harms, J. F.; Schmidt, C. J.; Kleiman, R. J.; Kunkel, L. M. Share Save
A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency Jabara, Haifa H.; Boyden, Steven E.; Chou, Janet; Ramesh, Narayanaswamy; Massaad, Michel J.; Benson, Halli; Bainter, Wayne; Fraulino, David; Rahimov, Fedik; Sieff, Colin; Liu, Zhi-Jian; Alshemmari, Salem H.; Al-Ramadi, Basel K.; Al-Dhekri, Hasan; Arnaout, Rand; Abu-Shukair, Mohammad; Vatsayan, Anant; Silver, Eli; Ahuja, Sanjay; Davies, E. Graham; Sola-Visner, Martha; Ohsumi, Toshiro K.; Andrews, Nancy C.; Notarangelo, Luigi D.; Fleming, Mark D.; Al-Herz, Waleed; Kunkel, Louis M.; Geha, Raif S. Share Save
.png){kind=icon}
.png){kind=icon}
Not logged in.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
