Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease von Gonorazky, Hernan D., Naumenko, Sergey, Ramani, Arun K., Nelakuditi, Viswateja, Mashouri, Pouria, Wang, Peiqui, Kao, Dennis, Ohri, Krish, Viththiyapaskaran, Senthuri, Tarnopolsky, Mark A., Mathews, Katherine D., Moore, Steven A., Osorio, Andres N., Villanova, David, Kemaladewi, Dwi U., Cohn, Ronald D., Brudno, Michael, Dowling, James J.

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Efficacy of Omaveloxolone in Friedreich's Ataxia: Delayed‐Start Analysis of the MOXIe Extension von Lynch, David R., Chin, Melanie P., Boesch, Sylvia, Delatycki, Martin B., Giunti, Paola, Goldsberry, Angie, Hoyle, J. Chad, Mariotti, Caterina, Mathews, Katherine D., Nachbauer, Wolfgang, O'Grady, Megan, Perlman, Susan, Subramony, S.H., Wilmot, George, Zesiewicz, Theresa, Meyer, Colin J.

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Prevalence of Duchenne and Becker muscular dystrophies in the United States von Romitti, Paul A, Zhu, Yong, Puzhankara, Soman, James, Katherine A, Nabukera, Sarah K, Zamba, Gideon K D, Ciafaloni, Emma, Cunniff, Christopher, Druschel, Charlotte M, Mathews, Katherine D, Matthews, Dennis J, Meaney, F John, Andrews, Jennifer G, Conway, Kristin M Caspers, Fox, Deborah J, Street, Natalie, Adams, Melissa M, Bolen, Julie

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Diagnostic approach to the congenital muscular dystrophies von Bönnemann, Carsten G, Wang, Ching H, Quijano-Roy, Susana, Deconinck, Nicolas, Bertini, Enrico, Ferreiro, Ana, Muntoni, Francesco, Sewry, Caroline, Béroud, Christophe, Mathews, Katherine D, Moore, Steven A, Bellini, Jonathan, Rutkowski, Anne, North, Kathryn N

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LTBP4 genotype predicts age of ambulatory loss in duchenne muscular dystrophy von Flanigan, Kevin M., Ceco, Ermelinda, Lamar, Kay-Marie, Kaminoh, Yuuki, Dunn, Diane M., Mendell, Jerry R., King, Wendy M., Pestronk, Alan, Florence, Julaine M., Mathews, Katherine D., Finkel, Richard S., Swoboda, Kathryn J., Gappmaier, Eduard, Howard, Michael T., Day, John W., McDonald, Craig, McNally, Elizabeth M., Weiss, Robert B.

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ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome von Willer, Tobias, Lee, Hane, Lommel, Mark, Yoshida-Moriguchi, Takako, de Bernabe, Daniel Beltran Valero, Venzke, David, Cirak, Sebahattin, Schachter, Harry, Vajsar, Jiri, Voit, Thomas, Muntoni, Francesco, Loder, Andrea S, Dobyns, William B, Winder, Thomas L, Strahl, Sabine, Mathews, Katherine D, Nelson, Stanley F, Moore, Steven A, Campbell, Kevin P

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The Influence of a Genetic Variant in CCDC78 on LMNA -Associated Skeletal Muscle Disease von Mohar, Nathaniel P, Cox, Efrem M, Adelizzi, Emily, Moore, Steven A, Mathews, Katherine D, Darbro, Benjamin W, Wallrath, Lori L

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Delayed Diagnosis in Duchenne Muscular Dystrophy: Data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet) von Ciafaloni, Emma, MD, Fox, Deborah J., MPH, Pandya, Shree, PT, MS, Westfield, Christina P., RN, BSN, Puzhankara, Soman, MS, Romitti, Paul A., PhD, Mathews, Katherine D., MD, Miller, Timothy M., MD, Matthews, Dennis J., MD, Miller, Lisa A., MD, MSPH, Cunniff, Christopher, MD, Druschel, Charlotte M., MD, MPH, Moxley, Richard T., MD

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Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophy von Waldrop, Megan A., Moore, Steven A., Mathews, Katherine D., Darbro, Benjamin W., Medne, Livja, Finkel, Richard, Connolly, Anne M., Crawford, Thomas O., Drachman, Daniel, Wein, Nicolas, Habib, Ali A., Krzesniak‐Swinarska, Monika A., Zaidman, Craig M., Collins, James J., Jokela, Manu, Udd, Bjarne, Day, John W., Ortiz‐Guerrero, Gloria, Statland, Jeff, Butterfield, Russell J., Dunn, Diane M., Weiss, Robert B., Flanigan, Kevin M.

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Clinical and genetic features of hearing loss in facioscapulohumeral muscular dystrophy von Lutz, Katie L, Holte, Lenore, Kliethermes, Stephanie A, Stephan, Carrie, Mathews, Katherine D

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Defining clinical endpoints in limb girdle muscular dystrophy: a GRASP-LGMD study von Doody, Amy, Alfano, Lindsay, Diaz-Manera, Jordi, Lowes, Linda, Mozaffar, Tahseen, Mathews, Katherine D, Weihl, Conrad C, Wicklund, Matthew, Hung, Man, Statland, Jeffrey, Johnson, Nicholas E

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Genotype-phenotype correlations in recessive RYR1-related myopathies von Amburgey, Kimberly, Bailey, Angela, Hwang, Jean H, Tarnopolsky, Mark A, Bonnemann, Carsten G, Medne, Livija, Mathews, Katherine D, Collins, James, Daube, Jasper R, Wellman, Gregory P, Callaghan, Brian, Clarke, Nigel F, Dowling, James J

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Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies von Campbell, Kevin P, Michele, Daniel E, Barresi, Rita, Kanagawa, Motoi, Saito, Fumiaki, Cohn, Ronald D, Satz, Jakob S, Dollar, James, Nishino, Ichizo, Kelley, Richard I, Somer, Hannu, Straub, Volker, Mathews, Katherine D, Moore, Steven A

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Medical management of muscle weakness in Duchenne muscular dystrophy von Rivera, Sarah R, Jhamb, Sumit K, Abdel-Hamid, Hoda Z, Acsadi, Gyula, Brandsema, John, Ciafaloni, Emma, Darras, Basil T, Iannaccone, Susan T, Konersman, Chamindra G, Kuntz, Nancy L, McDonald, Craig M, Parsons, Julie A, Tesi Rocha, Carolina, Zaidman, Craig M, Butterfield, Russell J, Connolly, Anne M, Mathews, Katherine D

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Propensity matched comparison of omaveloxolone treatment to Friedreich ataxia natural history data von Lynch, David R., Goldsberry, Angie, Rummey, Christian, Farmer, Jennifer, Boesch, Sylvia, Delatycki, Martin B., Giunti, Paola, Hoyle, J. Chad, Mariotti, Caterina, Mathews, Katherine D., Nachbauer, Wolfgang, Perlman, Susan, Subramony, S.H., Wilmot, George, Zesiewicz, Theresa, Weissfeld, Lisa, Meyer, Colin

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Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene von Flanigan, Kevin M, Dunn, Diane M, von Niederhausern, Andrew, Soltanzadeh, Payam, Howard, Michael T, Sampson, Jacinda B, Swoboda, Kathryn J, Bromberg, Mark B, Mendell, Jerry R, Taylor, Laura E, Anderson, Christine B, Pestronk, Alan, Florence, Julaine M, Connolly, Anne M, Mathews, Katherine D, Wong, Brenda, Finkel, Richard S, Bonnemann, Carsten G, Day, John W, McDonald, Craig, Weiss, Robert B

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Clinical phenotypes as predictors of the outcome of skipping around DMD exon 45 von Findlay, Andrew R., Wein, Nicolas, Kaminoh, Yuuki, Taylor, Laura E., Dunn, Diane M., Mendell, Jerry R., King, Wendy M., Pestronk, Alan, Florence, Julaine M., Mathews, Katherine D., Finkel, Richard S., Swoboda, Kathryn J., Howard, Michael T., Day, John W., McDonald, Craig, Nicolas, Aurélie, Le Rumeur, Elisabeth, Weiss, Robert B., Flanigan, Kevin M.

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Clinical and genetic characterization of manifesting carriers of DMD mutations von Soltanzadeh, Payam, Friez, Michael J, Dunn, Diane, von Niederhausern, Andrew, Gurvich, Olga L, Swoboda, Kathryn J, Sampson, Jacinda B, Pestronk, Alan, Connolly, Anne M, Florence, Julaine M, Finkel, Richard S, Bönnemann, Carsten G, Medne, Livija, Mendell, Jerry R, Mathews, Katherine D, Wong, Brenda L, Sussman, Michael D, Zonana, Jonathan, Kovak, Karen, Gospe, Sidney M, Gappmaier, Eduard, Taylor, Laura E, Howard, Michael T, Weiss, Robert B, Flanigan, Kevin M

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Thirty-Year Follow-Up of Early Onset Amyotrophic Lateral Sclerosis with a Pathogenic Variant in SPTLC1 von Ajjarapu, Aparna, Feely, Shawna ME, Shy, Michael E., Trout, Christina, Zuchner, Stephan, Moore, Steven A., Mathews, Katherine D.

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Onasemnogene‐abeparvovec administration to premature infants with spinal muscular atrophy von Brown, Stephen M., Ajjarapu, Aparna S., Ramachandra, Divya, Blasco‐Pérez, Laura, Costa‐Roger, Mar, Tizzano, Eduardo F., Sumner, Charlotte J., Mathews, Katherine D.

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