Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort
Flanigan, Kevin M, Dunn, Diane M, von Niederhausern, Andrew, Soltanzadeh, Payam, Gappmaier, Eduard, Howard, Michael T, Sampson, Jacinda B, Mendell, Jerry R, Wall, Cheryl, King, Wendy M, Pestronk, Alan, Florence, Julaine M, Connolly, Anne M, Mathews, Katherine D, Stephan, Carrie M, Laubenthal, Karla S, Wong, Brenda L, Morehart, Paula J, Meyer, Amy, Finkel, Richard S, Bonnemann, Carsten G, Medne, Livija, Day, John W, Dalton, Joline C, Margolis, Marcia K, Hinton, Veronica J, Weiss, Robert B
Published in Human mutation (01.12.2009)
Published in Human mutation (01.12.2009)
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Motor outcome measures in patients with FKRP mutations: A longitudinal follow-up
Gedlinske, Amber M, Stephan, Carrie M, Mockler, Shelley R H, Laubscher, Katie M, Laubenthal, Karla S, Crockett, Cameron D, Zimmerman, M Bridget, Mathews, Katherine D
Published in Neurology (13.10.2020)
Published in Neurology (13.10.2020)
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Association Study of Exon Variants in the NF-κB and TGFβ Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy
Bello, Luca, Flanigan, Kevin M., Weiss, Robert B., Dunn, Diane M., Swoboda, Kathryn J., Gappmaier, Eduard, Howard, Michael T., Sampson, Jacinda B., Bromberg, Mark B., Butterfield, Russell, Kerr, Lynne, Pestronk, Alan, Florence, Julaine M., Connolly, Anne, Lopate, Glenn, Golumbek, Paul, Schierbecker, Jeanine, Malkus, Betsy, Renna, Renee, Siener, Catherine, Finkel, Richard S., Bonnemann, Carsten G., Medne, Livija, Glanzman, Allan M., Flickinger, Jean, Mendell, Jerry R., King, Wendy M., Lowes, Linda, Alfano, Lindsay, Mathews, Katherine D., Stephan, Carrie, Laubenthal, Karla, Baldwin, Kris, Wong, Brenda, Morehart, Paula, Meyer, Amy, Day, John W., Naughton, Cameron E., Margolis, Marcia, Spitali, Pietro, Aartsma-Rus, Annemieke, Muntoni, Francesco, Zaharieva, Irina, Ferlini, Alessandra, Mercuri, Eugenio, Tuffery-Giraud, Sylvie, Claustres, Mireille, Straub, Volker, Lochmüller, Hanns, Barp, Andrea, Vianello, Sara, Pegoraro, Elena, Punetha, Jaya, Gordish-Dressman, Heather, Giri, Mamta, McDonald, Craig M., Hoffman, Eric P., Cnaan, Avital, Abresch, Richard T., Henricson, Erik K., Morgenroth, Lauren P., Duong, Tina, Chidambaranathan, V. Viswanathan, Biggar, W. Douglas, McAdam, Laura C., Mah, Jean, Tulinius, Mar, Leshner, Robert, Rocha, Carolina Tesi, Thangarajh, Mathula, Kornberg, Andrew, Ryan, Monique, Nevo, Yoram, Dubrovsky, Alberto, Clemens, Paula R., Abdel-Hamid, Hoda, Connolly, Anne M., Teasley, Jean, Bertorini, Tulio E., North, Kathryn, Webster, Richard, Kolski, Hanna, Kuntz, Nancy, Driscoll, Sherilyn, Carlo, Jose, Gorni, Ksenija, Lotze, Timothy, Karachunski, Peter, Bodensteiner, John B.
Published in American journal of human genetics (03.11.2016)
Published in American journal of human genetics (03.11.2016)
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