Resultados da pesquisa - Abrams, Alexander J.
- A mostrar 1 - 9 resultados de 9
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Genetic compensation in a stable slc25a46 mutant zebrafish: A case for using F0 CRISPR mutagenesis to study phenotypes caused by inherited disease Por Buglo, Elena, Sarmiento, Evan, Martuscelli, Nicole Belliard, Sant, David W., Danzi, Matt C., Abrams, Alexander J., Dallman, Julia E., Züchner, Stephan
Publicado em 2020Text -
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Insights into the genotype-phenotype correlation and molecular function of SLC25A46 Por Abrams, Alexander J., Fontanesi, Flavia, Tan, Natalie BL., Buglo, Elena, Campeanu, Ion J., Kornberg, Andrew J., Phelan, Dean G., Stark, Zornitza, Zuchner, Stephan
Publicado em 2018Text -
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The stress-responsive gene GDPGP1/mcp-1 regulates neuronal glycogen metabolism and survival Por Schulz, Alexander, Sekine, Yuichi, Oyeyemi, Motunrayo J., Abrams, Alexander J., Basavaraju, Manasa, Han, Sung Min, Groth, Marco, Morrison, Helen, Strittmatter, Stephen M., Hammarlund, Marc
Publicado em 2020Text -
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The Expanding Role of MBD Genes in Autism: Identification of a MECP2 Duplication and Novel Alterations in MBD5, MBD6, and SETDB1 Por Cukier, Holly N., Lee, Joycelyn M., Ma, Deqiong, Young, Juan I., Mayo, Vera, Butler, Brittany L., Ramsook, Sandhya S., Rantus, Joseph A., Abrams, Alexander J., Whitehead, Patrice L., Wright, Harry H., Abramson, Ruth K., Haines, Jonathan L., Cuccaro, Michael L., Pericak-Vance, Margaret A., Gilbert, John R.
Publicado em 2012Text -
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Cryptic Amyloidogenic Elements in the 3′ UTRs of Neurofilament Genes Trigger Axonal Neuropathy Por Rebelo, Adriana P., Abrams, Alexander J., Cottenie, Ellen, Horga, Alejandro, Gonzalez, Michael, Bis, Dana M., Sanchez-Mejias, Avencia, Pinto, Milena, Buglo, Elena, Markel, Kasey, Prince, Jeffrey, Laura, Matilde, Houlden, Henry, Blake, Julian, Woodward, Cathy, Sweeney, Mary G., Holton, Janice L., Hanna, Michael, Dallman, Julia E., Auer-Grumbach, Michaela, Reilly, Mary M., Zuchner, Stephan
Publicado em 2016Text -
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Mutations in the UGO1-like protein SLC25A46 cause an optic atrophy spectrum disorder Por Abrams, Alexander J., Hufnagel, Robert B., Rebelo, Adriana, Zanna, Claudia, Patel, Neville, Gonzalez, Michael A., Campeanu, Ion J., Griffin, Laurie B., Groenewald, Saskia, Strickland, Alleene V., Tao, Feifei, Speziani, Fiorella, Abreu, Lisa, Schüle, Rebecca, Caporali, Leonardo, La Morgia, Chiara, Maresca, Alessandra, Liguori, Rocco, Lodi, Raffaele, Ahmed, Zubair M., Sund, Kristen L., Wang, Xinjian, Krueger, Laura A., Peng, Yanyan, Prada, Carlos E., Prows, Cynthia A., Bove, Kevin, Schorry, Elizabeth K., Antonellis, Anthony, Zimmerman, Holly H., Abdul-Rahman, Omar A., Yang, Yaping, Downes, Susan M., Prince, Jeffery, Fontanesi, Flavia, Barrientos, Antonio, Nemeth, Andrea H., Carelli, Valerio, Huang, Taosheng, Zuchner, Stephan, Dallman, Julia E.
Publicado em 2015Text -
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Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2 Por Foley, A. Reghan, Menezes, Manoj P., Pandraud, Amelie, Gonzalez, Michael A., Al-Odaib, Ahmad, Abrams, Alexander J., Sugano, Kumiko, Yonezawa, Atsushi, Manzur, Adnan Y., Burns, Joshua, Hughes, Imelda, McCullagh, B. Gary, Jungbluth, Heinz, Lim, Ming J., Lin, Jean-Pierre, Megarbane, Andre, Urtizberea, J. Andoni, Shah, Ayaz H., Antony, Jayne, Webster, Richard, Broomfield, Alexander, Ng, Joanne, Mathew, Ann A., O’Byrne, James J., Forman, Eva, Scoto, Mariacristina, Prasad, Manish, O’Brien, Katherine, Olpin, Simon, Oppenheim, Marcus, Hargreaves, Iain, Land, John M., Wang, Min X., Carpenter, Kevin, Horvath, Rita, Straub, Volker, Lek, Monkol, Gold, Wendy, Farrell, Michael O., Brandner, Sebastian, Phadke, Rahul, Matsubara, Kazuo, McGarvey, Michael L., Scherer, Steven S., Baxter, Peter S., King, Mary D., Clayton, Peter, Rahman, Shamima, Reilly, Mary M., Ouvrier, Robert A., Christodoulou, John, Züchner, Stephan, Muntoni, Francesco, Houlden, Henry
Publicado em 2014Text