Resultados da pesquisa - Sparks, Susan

Congenital protein hypoglycosylation diseases Por Sparks, Susan E

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Quantification of endogenous retinoic acid in limited biological samples by LC/MS/MS Por Kane, Maureen A., Chen, Na, Sparks, Susan, Napoli, Joseph L.

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Third International Workshop for Glycosylation Defects in Muscular Dystrophies, 18–19 April 2013, Charlotte, USA Por Blaeser, Anthony, Sparks, Susan, Brown, Susan C., Campbell, Kevin, Lu, Qi

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Evidence that mouse brain neuropathy target esterase is a lysophospholipase Por Quistad, Gary B., Barlow, Carrolee, Winrow, Christopher J., Sparks, Susan E., Casida, John E.

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Qualitative interviews to improve patient-reported outcome measures in late-onset Pompe disease: the patient perspective Por Hamed, Alaa, An Haack, Kristina, Gwaltney, Chad, Baranowski, Eileen, Stewart, Andrew, Krupnick, Robert, Tyler, Margaret, Sparks, Susan, Paty, Jean

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Dysferlin Deficiency Enhances Monocyte Phagocytosis: A Model for the Inflammatory Onset of Limb-Girdle Muscular Dystrophy 2B Por Nagaraju, Kanneboyina, Rawat, Rashmi, Veszelovszky, Edina, Thapliyal, Rachana, Kesari, Akanchha, Sparks, Susan, Raben, Nina, Plotz, Paul, Hoffman, Eric P.

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Forced vital capacity and cross-domain late-onset Pompe disease outcomes: an individual patient-level data meta-analysis Por Berger, Kenneth I., Kanters, Steve, Jansen, Jeroen P., Stewart, Andrew, Sparks, Susan, Haack, Kristina An, Bolzani, Anna, Siliman, Gaye, Hamed, Alaa

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Comprehensive Mutation Analysis for Congenital Muscular Dystrophy: A Clinical PCR-Based Enrichment and Next-Generation Sequencing Panel Por Valencia, C. Alexander, Ankala, Arunkanth, Rhodenizer, Devin, Bhide, Shruti, Littlejohn, Martin Robert, Keong, Lisa Mari, Rutkowski, Anne, Sparks, Susan, Bonnemann, Carsten, Hegde, Madhuri

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A Placebo-Controlled Trial of Simvastatin Therapy in Smith-Lemli-Opitz Syndrome Por Wassif, Christopher A., Kratz, Lisa, Sparks, Susan E., Wheeler, Courtney, Bianconi, Simona, Gropman, Andrea, Calis, Karim A., Kelley, Richard I., Tierney, Elaine, Porter, Forbes D.

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Hermansky-Pudlak Syndrome in Two African-American Brothers Por Merideth, Melissa A., Vincent, Lisa M., Sparks, Susan E., Hess, Richard A., Manoli, Irini, O’Brien, Kevin J., Tsilou, Ekaterina, White, James G., Huizing, Marjan, Gahl, William A.

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Variations in EEG discharges predict ADHD severity within individual Smith-Lemli-Opitz patients Por Schreiber, John M., Lanham, Diane C., Trescher, William H., Sparks, Susan E., Wassif, Christopher A., Caffo, Brian S., Porter, Forbes D., Tierney, Elaine, Gropman, Andrea L., Ewen, Joshua B.

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Intravenous immune globulin in hereditary inclusion body myopathy: a pilot study Por Sparks, Susan, Rakocevic, Goran, Joe, Galen, Manoli, Irini, Shrader, Joseph, Harris-Love, Michael, Sonies, Barbara, Ciccone, Carla, Dorward, Heidi, Krasnewich, Donna, Huizing, Marjan, Dalakas, Marinos C, Gahl, William A

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The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease Por Bevilacqua, Jorge A., Guecaimburu Ehuletche, Maria del Rosario, Perna, Abayuba, Dubrovsky, Alberto, Franca, Marcondes C., Vargas, Steven, Hegde, Madhuri, Claeys, Kristl G., Straub, Volker, Daba, Nadia, Faria, Roberta, Periquet, Magali, Sparks, Susan, Thibault, Nathan, Araujo, Roberto

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Impaired Fibroblast Growth Factor Receptor 1 Signaling as a Cause of Normosmic Idiopathic Hypogonadotropic Hypogonadism Por Raivio, Taneli, Sidis, Yisrael, Plummer, Lacey, Chen, Huaibin, Ma, Jinghong, Mukherjee, Abir, Jacobson-Dickman, Elka, Quinton, Richard, Van Vliet, Guy, Lavoie, Helene, Hughes, Virginia A., Dwyer, Andrew, Hayes, Frances J., Xu, Shuyun, Sparks, Susan, Kaiser, Ursula B., Mohammadi, Moosa, Pitteloud, Nelly

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Frequency of Impaired Fibroblast Growth Factor Receptor 1 Signaling as a Cause of Normosmic Idiopathic Hypogonadotropic Hypogonadism Por Raivio, Taneli, Sidis, Yisrael, Plummer, Lacey, Chen, Huaibin, Ma, Jinghong, Mukherjee, Abir, Jacobson-Dickman, Elka, Quinton, Richard, Van Vliet, Guy, Lavoie, Helene, Hughes, Virginia A., Dwyer, Andrew, Hayes, Frances J., Xu, Shuyun, Sparks, Susan, Kaiser, Ursula B., Mohammadi, Moosa, Pitteloud, Nelly

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Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease Por Kishnani, Priya S., Gibson, James B., Gambello, Michael J., Hillman, Richard, Stockton, David W., Kronn, David, Leslie, Nancy D., Pena, Loren D. M., Tanpaiboon, Pranoot, Day, John W., Wang, Raymond Y., Goldstein, Jennifer L., An Haack, Kristina, Sparks, Susan E., Zhao, Yang, Hahn, Si Houn

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Longitudinal effect of eteplirsen versus historical control on ambulation in Duchenne muscular dystrophy Por Mendell, Jerry R., Goemans, Nathalie, Lowes, Linda P., Alfano, Lindsay N., Berry, Katherine, Shao, James, Kaye, Edward M., Mercuri, Eugenio, Hamid, Hoda Abdel, Byrne, Barry J., Connolly, Anne M., Dracker, Robert A., Matthew Frank, L., Heydemann, Peter T., O'Brien, Kevin C., Sparks, Susan E., Specht, Linda A., Rodino‐Klapac, Louise, Sahenk, Zarife, Al‐Zaidy, Samiah, Cripe, Linda H., Lewis, Sarah, M, Pane, E, Mazzone, S, Messina, GL, Vita, Bertini, D Amico A, Casimiro, Berardinelli A, Y, Torrente, F, Magri, GP, Comi, G, Baranello, T, Mongini, A, Pini, R, Battini, E, Pegoraro, C, Bruno, L, Politano, S, Previtali

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Teenage exercise is associated with earlier symptom onset in dysferlinopathy: a retrospective cohort study Por Moore, Ursula R, Jacobs, Marni, Fernandez-Torron, Roberto, Jang, Jiji, James, Meredith K, Mayhew, Anna, Rufibach, Laura, Mittal, Plavi, Eagle, Michelle, Cnaan, Avital, Carlier, Pierre G, Blamire, Andrew, Hilsden, Heather, Lochmüller, Hanns, Grieben, Ulrike, Spuler, Simone, Tesi Rocha, Carolina, Day, John W, Jones, Kristi J, Bharucha-Goebel, Diana X, Salort-Campana, Emmanuelle, Harms, Matthew, Pestronk, Alan, Krause, Sabine, Schreiber-Katz, Olivia, Walter, Maggie C, Paradas, Carmen, Hogrel, Jean-Yves, Stojkovic, Tanya, Takeda, Shin’ichi, Mori-Yoshimura, Madoka, Bravver, Elena, Sparks, Susan, Diaz-Manera, Jordi, Bello, Luca, Semplicini, Claudio, Pegoraro, Elena, Mendell, Jerry R, Bushby, Kate, Straub, Volker

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Recurrent Deletions and Reciprocal Duplications of 10q11.21q11.23 Including CHAT and SLC18A3 are Likely Mediated by Complex Low-Copy Repeats Por Stankiewicz, Paweł, Kulkarni, Shashikant, Dharmadhikari, Avinash V., Sampath, Srirangan, Bhatt, Samarth S., Shaikh, Tamim H., Xia, Zhilian, Pursley, Amber N., Cooper, M. Lance, Shinawi, Marwan, Paciorkowski, Alex R., Grange, Dorothy K., Noetzel, Michael J., Saunders, Scott, Simons, Paul, Summar, Marshall, Lee, Brendan, Scaglia, Fernando, Fellmann, Florence, Martinet, Danielle, Beckmann, Jacques S., Asamoah, Alexander, Platky, Kathryn, Sparks, Susan, Martin, Ann S., Madan-Khetarpal, Suneeta, Hoover, Jacqueline, Medne, Livija, Bonnemann, Carsten G., Moeschler, John B., Vallee, Stephanie E., Parikh, Sumit, Irwin, Polly, Dalzell, Victoria P., Smith, Wendy E., Banks, Valerie C., Flannery, David B., Lovell, Carolyn M., Bellus, Gary A., Golden-Grant, Kathryn, Gorski, Jerome L., Kussmann, Jennifer L., McGregor, Tracy L., Hamid, Rizwan, Pfotenhauer, Jean, Ballif, Blake C., Shaw, Chad A., Kang, Sung-Hae L., Bacino, Carlos A., Patel, Ankita, Rosenfeld, Jill A., Cheung, Sau Wai, Shaffer, Lisa G.

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ALG1-CDG: Clinical and molecular characterization of 39 unreported patients Por Ng, Bobby G., Shiryaev, Sergey A., Rymen, Daisy, Eklund, Erik A., Raymond, Kimiyo, Kircher, Martin, Abdenur, Jose E., Alehan, Fusun, Midro, Alina T., Bamshad, Michael J., Barone, Rita, Berry, Gerard T., Brumbaugh, Jane E., Buckingham, Kati J., Clarkson, Katie, Cole, F. Sessions, O'Connor, Shawn, Cooper, Gregory M., Van Coster, Rudy, Demmer, Laurie A., Diogo, Luisa, Fay, Alexander J., Ficicioglu, Can, Fiumara, Agata, Gahl, William A., Ganetzky, Rebecca, Goel, Himanshu, Harshman, Lyndsay A., He, Miao, Jaeken, Jaak, James, Philip M., Katz, Daniel, Keldermans, Liesbeth, Kibaek, Maria, Kornberg, Andrew J., Lachlan, Katherine, Lam, Christina, Yaplito-Lee, Joy, Nickerson, Deborah A., Peters, Heidi L., Race, Valerie, Régal, Luc, Rush, Jeffrey S., Rutledge, S. Lane, Shendure, Jay, Souche, Erika, Sparks, Susan E., Trapane, Pamela, Sanchez-Valle, Amarilis, Vilain, Eric, Vøllo, Arve, Waechter, Charles J., Wang, Raymond Y., Wolfe, Lynne A., Wong, Derek A., Wood, Tim, Yang, Amy C., Matthijs, Gert, Freeze, Hudson H.

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