Search Results - Griffin, Laurie B.

Dimerization is required for GARS-mediated neurotoxicity in dominant CMT disease by Malissovas, Nikos, Griffin, Laurie B., Antonellis, Anthony, Beis, Dimitris

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Predicting the Pathogenicity of Aminoacyl-tRNA Synthetase Mutations by Oprescu, Stephanie N., Griffin, Laurie B., Beg, Asim A., Antonellis, Anthony

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Compound heterozygosity for loss-of-function FARSB variants in a patient with classic features of recessive aminoacyl-tRNA synthetase-related disease by Antonellis, Anthony, Oprescu, Stephanie N., Griffin, Laurie B., Heider, Amer, Amalfitano, Andrea, Innis, Jeffrey W.

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Effect of Novel Breastfeeding Smartphone Applications on Breastfeeding Rates by Griffin, Laurie B., López, Julia D., Ranney, Megan L., Macones, George A., Cahill, Alison G., Lewkowitz, Adam K.

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Ecteinascidin 743 Interferes with the Activity of EWS-FLI1 in Ewing Sarcoma Cells by Grohar, Patrick J, Griffin, Laurie B, Yeung, Choh, Chen, Qing-Rong, Pommier, Yves, Khanna, Chand, Khan, Javed, Helman, Lee J

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Impaired Function is a Common Feature of Neuropathy-Associated Glycyl-tRNA Synthetase Mutations by Griffin, Laurie B., Sakaguchi, Reiko, McGuigan, David, Gonzalez, Michael A., Searby, Charles, Züchner, Stephan, Hou, Ya-Ming, Antonellis, Anthony

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A novel AARS mutation in a family with dominant myeloneuropathy by Motley, William W., Griffin, Laurie B., Mademan, Inès, Baets, Jonathan, De Vriendt, Els, De Jonghe, Peter, Antonellis, Anthony, Jordanova, Albena, Scherer, Steven S.

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AKAP9 Is Essential for Spermatogenesis and Sertoli Cell Maturation in Mice by Schimenti, Kerry J., Feuer, Sky K., Griffin, Laurie B., Graham, Nancy R., Bovet, Claire A., Hartford, Suzanne, Pendola, Janice, Lessard, Carl, Schimenti, John C., Ward, Jeremy O.

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Identification of an Inhibitor of the EWS-FLI1 Oncogenic Transcription Factor by High-Throughput Screening by Grohar, Patrick J., Woldemichael, Girma M., Griffin, Laurie B., Mendoza, Arnulfo, Chen, Qing-Rong, Yeung, Choh, Currier, Duane G., Davis, Sean, Khanna, Chand, Khan, Javed, McMahon, James B., Helman, Lee J.

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Mutation in Mouse Hei10, an E3 Ubiquitin Ligase, Disrupts Meiotic Crossing Over by Ward, Jeremy O, Reinholdt, Laura G, Motley, William W, Niswander, Lisa M, Deacon, Dekker C, Griffin, Laurie B, Langlais, Kristofor K, Backus, Vickie L, Schimenti, Kerry J, O'Brien, Marilyn J, Eppig, John J, Schimenti, John C

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Substrate interaction defects in histidyl-tRNA synthetase linked to dominant axonal peripheral neuropathy by Abbott, Jamie A., Meyer-Schuman, Rebecca, Lupo, Vincenzo, Feely, Shawna, Mademan, Inès, Oprescu, Stephanie N., Griffin, Laurie B., Alberti, M. Antonia, Casasnovas, Carlos, Aharoni, Sharon, Basel-Vanagaite, Lina, Züchner, Stephan, De Jonghe, Peter, Baets, Jonathan, Shy, Michael E., Espinós, Carmen, Demeler, Borries, Antonellis, Anthony, Francklyn, Christopher

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Loss-of-Function Alanyl-tRNA Synthetase Mutations Cause an Autosomal-Recessive Early-Onset Epileptic Encephalopathy with Persistent Myelination Defect by Simons, Cas, Griffin, Laurie B., Helman, Guy, Golas, Gretchen, Pizzino, Amy, Bloom, Miriam, Murphy, Jennifer L.P., Crawford, Joanna, Evans, Sarah H., Topper, Scott, Whitehead, Matthew T., Schreiber, John M., Chapman, Kimberly A., Tifft, Cyndi, Lu, Katrina B., Gamper, Howard, Shigematsu, Megumi, Taft, Ryan J., Antonellis, Anthony, Hou, Ya-Ming, Vanderver, Adeline

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Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease by Williams, Katie B, Brigatti, Karlla W, Puffenberger, Erik G, Gonzaga-Jauregui, Claudia, Griffin, Laurie B, Martinez, Erick D, Wenger, Olivia K, Yoder, Mark A, Kandula, Vinay V R, Fox, Michael D, Demczko, Matthew M, Poskitt, Laura, Furuya, Katryn N, Reid, Jeffrey G, Overton, John D, Baras, Aris, Miles, Lili, Radhakrishnan, Kadakkal, Carson, Vincent J, Antonellis, Anthony, Jinks, Robert N, Strauss, Kevin A

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Allele-specific RNA interference prevents neuropathy in Charcot-Marie-Tooth disease type 2D mouse models by Morelli, Kathryn H., Griffin, Laurie B., Pyne, Nettie K., Wallace, Lindsay M., Fowler, Allison M., Oprescu, Stephanie N., Takase, Ryuichi, Wei, Na, Meyer-Schuman, Rebecca, Mellacheruvu, Dattatreya, Kitzman, Jacob O., Kocen, Samuel G., Hines, Timothy J., Spaulding, Emily L., Lupski, James R., Nesvizhskii, Alexey, Mancias, Pedro, Butler, Ian J., Yang, Xiang-Lei, Hou, Ya-Ming, Antonellis, Anthony, Harper, Scott Q., Burgess, Robert W.

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Exome sequence analysis suggests genetic burden contributes to phenotypic variability and complex neuropathy by Gonzaga-Jauregui, Claudia, Harel, Tamar, Gambin, Tomasz, Kousi, Maria, Griffin, Laurie B., Francescatto, Ludmila, Ozes, Burcak, Karaca, Ender, Jhangiani, Shalini, Bainbridge, Matthew N., Lawson, Kim S., Pehlivan, Davut, Okamoto, Yuji, Withers, Marjorie, Mancias, Pedro, Slavotinek, Anne, Reitnauer, Pamela J, Goksungur, Meryem T., Shy, Michael, Crawford, Thomas O., Koenig, Michel, Willer, Jason, Flores, Brittany N., Pediaditrakis, Igor, Us, Onder, Wiszniewski, Wojciech, Parman, Yesim, Antonellis, Anthony, Muzny, Donna M., Katsanis, Nicholas, Battaloglu, Esra, Boerwinkle, Eric, Gibbs, Richard A., Lupski, James R.

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Mutations in the UGO1-like protein SLC25A46 cause an optic atrophy spectrum disorder by 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.

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