Review of the Diagnosis and Treatment of Periodic Paralysis
Statland, Jeffrey M., Fontaine, Bertrand, Hanna, Michael G., Johnson, Nicholas E., Kissel, John T., Sansone, Valeria A., Shieh, Perry B., Tawil, Rabi N., Trivedi, Jaya, Cannon, Stephen C., Griggs, Robert C.
Published in Muscle & nerve (01.04.2018)
Published in Muscle & nerve (01.04.2018)
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MRI-informed muscle biopsies correlate MRI with pathology and DUX4 target gene expression in FSHD
Wang, Leo H, Friedman, Seth D, Shaw, Dennis, Snider, Lauren, Wong, Chao-Jen, Budech, Chris B, Poliachik, Sandra L, Gove, Nancy E, Lewis, Leann M, Campbell, Amy E, Lemmers, Richard J F L, Maarel, Silvère M, Tapscott, Stephen J, Tawil, Rabi N
Published in Human molecular genetics (01.02.2019)
Published in Human molecular genetics (01.02.2019)
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A feedback loop between nonsense-mediated decay and the retrogene DUX4 in facioscapulohumeral muscular dystrophy
Feng, Qing, Snider, Lauren, Jagannathan, Sujatha, Tawil, Rabi, van der Maarel, Silvère M, Tapscott, Stephen J, Bradley, Robert K
Published in eLife (07.01.2015)
Published in eLife (07.01.2015)
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Single-nucleus RNA-seq identifies divergent populations of FSHD2 myotube nuclei
Jiang, Shan, Williams, Katherine, Kong, Xiangduo, Zeng, Weihua, Nguyen, Nam Viet, Ma, Xinyi, Tawil, Rabi, Yokomori, Kyoko, Mortazavi, Ali
Published in PLoS genetics (01.05.2020)
Published in PLoS genetics (01.05.2020)
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Splicing biomarkers of disease severity in myotonic dystrophy
Nakamori, Masayuki, Sobczak, Krzysztof, Puwanant, Araya, Welle, Steve, Eichinger, Katy, Pandya, Shree, Dekdebrun, Jeannne, Heatwole, Chad R., McDermott, Michael P., Chen, Tian, Cline, Melissa, Tawil, Rabi, Osborne, Robert J., Wheeler, Thurman M., Swanson, Maurice S., Moxley III, Richard T., Thornton, Charles A.
Published in Annals of neurology (01.12.2013)
Published in Annals of neurology (01.12.2013)
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Model systems of DUX4 expression recapitulate the transcriptional profile of FSHD cells
Jagannathan, Sujatha, Shadle, Sean C, Resnick, Rebecca, Snider, Lauren, Tawil, Rabi N, van der Maarel, Silvère M, Bradley, Robert K, Tapscott, Stephen J
Published in Human molecular genetics (15.10.2016)
Published in Human molecular genetics (15.10.2016)
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Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy
van den Boogaard, Marlinde L., Lemmers, Richard J.L.F., Balog, Judit, Wohlgemuth, Mariëlle, Auranen, Mari, Mitsuhashi, Satomi, van der Vliet, Patrick J., Straasheijm, Kirsten R., van den Akker, Rob F.P., Kriek, Marjolein, Laurense-Bik, Marlies E.Y., Raz, Vered, van Ostaijen-ten Dam, Monique M., Hansson, Kerstin B.M., van der Kooi, Elly L., Kiuru-Enari, Sari, Udd, Bjarne, van Tol, Maarten J.D., Nishino, Ichizo, Tawil, Rabi, Tapscott, Stephen J., van Engelen, Baziel G.M., van der Maarel, Silvère M.
Published in American journal of human genetics (05.05.2016)
Published in American journal of human genetics (05.05.2016)
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Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2
Lemmers, Richard J L F, Tawil, Rabi, Petek, Lisa M, Balog, Judit, Block, Gregory J, Santen, Gijs W E, Amell, Amanda M, van der Vliet, Patrick J, Almomani, Rowida, Straasheijm, Kirsten R, Krom, Yvonne D, Klooster, Rinse, Sun, Yu, den Dunnen, Johan T, Helmer, Quinta, Donlin-Smith, Colleen M, Padberg, George W, van Engelen, Baziel G M, de Greef, Jessica C, Aartsma-Rus, Annemieke M, Frants, Rune R, de Visser, Marianne, Desnuelle, Claude, Sacconi, Sabrina, Filippova, Galina N, Bakker, Bert, Bamshad, Michael J, Tapscott, Stephen J, Miller, Daniel G, van der Maarel, Silvère M
Published in Nature genetics (01.12.2012)
Published in Nature genetics (01.12.2012)
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Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy
Lemmers, Richard J.L.F, van der Vliet, Patrick J, Klooster, Rinse, Sacconi, Sabrina, Camaño, Pilar, Dauwerse, Johannes G, Snider, Lauren, Straasheijm, Kirsten R, Jan van Ommen, Gert, Padberg, George W, Miller, Daniel G, Tapscott, Stephen J, Tawil, Rabi, Frants, Rune R, van der Maarel, Silvère M
Published in Science (American Association for the Advancement of Science) (24.09.2010)
Published in Science (American Association for the Advancement of Science) (24.09.2010)
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NuRD and CAF-1-mediated silencing of the D4Z4 array is modulated by DUX4-induced MBD3L proteins
Campbell, Amy E, Shadle, Sean C, Jagannathan, Sujatha, Lim, Jong-Won, Resnick, Rebecca, Tawil, Rabi, van der Maarel, Silvère M, Tapscott, Stephen J
Published in eLife (13.03.2018)
Published in eLife (13.03.2018)
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Randomized phase 2 study of ACE‐083, a muscle‐promoting agent, in facioscapulohumeral muscular dystrophy
Statland, Jeffrey M., Campbell, Craig, Desai, Urvi, Karam, Chafic, Díaz‐Manera, Jordi, Guptill, Jeffrey T., Korngut, Lawrence, Genge, Angela, Tawil, Rabi N., Elman, Lauren, Joyce, Nanette C., Wagner, Kathryn R., Manousakis, Georgios, Amato, Anthony A., Butterfield, Russell J., Shieh, Perry B., Wicklund, Matthew, Gamez, Josep, Bodkin, Cynthia, Pestronk, Alan, Weihl, Conrad C., Vilchez‐Padilla, Juan J., Johnson, Nicholas E., Mathews, Katherine D., Miller, Barry, Leneus, Ashley, Fowler, Marcie, Rijn, Marc, Attie, Kenneth M.
Published in Muscle & nerve (01.07.2022)
Published in Muscle & nerve (01.07.2022)
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Longitudinal measures of RNA expression and disease activity in FSHD muscle biopsies
Wong, Chao-Jen, Wang, Leo H, Friedman, Seth D, Shaw, Dennis, Campbell, Amy E, Budech, Chris B, Lewis, Leann M, Lemmers, Richard J F L, Statland, Jeffrey M, van der Maarel, Silvère M, Tawil, Rabi N, Tapscott, Stephen J
Published in Human molecular genetics (15.04.2020)
Published in Human molecular genetics (15.04.2020)
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Longitudinal study of MRI and functional outcome measures in facioscapulohumeral muscular dystrophy
Wang, Leo H, Shaw, Dennis W W, Faino, Anna, Budech, Christopher B, Lewis, Leann M, Statland, Jeffrey, Eichinger, Katy, Tapscott, Stephen J, Tawil, Rabi N, Friedman, Seth D
Published in BMC musculoskeletal disorders (10.03.2021)
Published in BMC musculoskeletal disorders (10.03.2021)
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Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene
Snider, Lauren, Geng, Linda N, Lemmers, Richard J L F, Kyba, Michael, Ware, Carol B, Nelson, Angelique M, Tawil, Rabi, Filippova, Galina N, van der Maarel, Silvère M, Tapscott, Stephen J, Miller, Daniel G
Published in PLoS genetics (28.10.2010)
Published in PLoS genetics (28.10.2010)
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Efficacy of prednisone for the treatment of ocular myasthenia (EPITOME): A randomized, controlled trial
Benatar, Michael, Mcdermott, Michael P., Sanders, Donald B., Wolfe, Gil I., Barohn, Richard J., Nowak, Richard J., Hehir, Michael, Juel, Vern, Katzberg, Hans, Tawil, Rabi
Published in Muscle & nerve (01.03.2016)
Published in Muscle & nerve (01.03.2016)
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