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Design of the Efficacy of Prednisone in the Treatment of Ocular Myasthenia (EPITOME) trial.
Published in:
Annals of the New York Academy of Sciences, 2012, v. 1275, n. 1, p. 17, doi. 10.1111/j.1749-6632.2012.06780.x
By:
- Benatar, Michael;
- Sanders, Donald B.;
- Wolfe, Gil I.;
- McDermott, Michael P.;
- Tawil, Rabi
Publication type:
Article
AI driven analysis of MRI to measure health and disease progression in FSHD.
Published in:
Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-65802-x
By:
- Riem, Lara;
- DuCharme, Olivia;
- Cousins, Matthew;
- Feng, Xue;
- Kenney, Allison;
- Morris, Jacob;
- Tapscott, Stephen J.;
- Tawil, Rabi;
- Statland, Jeff;
- Shaw, Dennis;
- Wang, Leo;
- Walker, Michaela;
- Lewis, Leann;
- Jacobs, Michael A.;
- Leung, Doris G.;
- Friedman, Seth D.;
- Blemker, Silvia S.
Publication type:
Article
A phase I/IItrial of MYO-029 in adult subjects with muscular dystrophy.
Published in:
Annals of Neurology, 2008, v. 63, n. 5, p. 561, doi. 10.1002/ana.21338
By:
- Wagner, Kathryn R.;
- Fleckenstein, James L.;
- Amato, Anthony A.;
- Barohn, Richard J.;
- Bushby, Katharine;
- Escolar, Diana M.;
- Flanigan, Kevin M.;
- Pestronk, Alan;
- Tawil, Rabi;
- Wolfe, Gil I.;
- Eagle, Michelle;
- Florence, Julaine M.;
- King, Wendy M.;
- Pandya, Shree;
- Straub, Volker;
- Juneau, Paul;
- Meyers, Kathleen;
- Csimma, Cristina;
- Araujo, Tracey;
- Allen, Robert
Publication type:
Article
Interferon‐α/β–mediated innate immune mechanisms in dermatomyositis.
Published in:
Annals of Neurology, 2005, v. 57, n. 5, p. 664
By:
- Steven A. Greenberg;
- Jack L. Pinkus;
- Geraldine S. Pinkus;
- Travis Burleson;
- Despina Sanoudou;
- Rabi Tawil;
- Richard J. Barohn;
- David S. Saperstein;
- Hannah R. Briemberg;
- Maria Ericsson;
- Peter Park;
- Anthony A. Amato
Publication type:
Article
Randomized trials of dichlorphenamide in the periodic paralyses.
Published in:
Annals of Neurology, 2000, v. 47, n. 1, p. 46, doi. 10.1002/1531-8249(200001)47:1<46::AID-ANA9>3.0.CO;2-H
By:
- Tawil, Rabi;
- McDermott, Michael P.;
- Brown, Robert;
- Shapiro, Barbara C.;
- Ptacek, Louis J.;
- McManis, Philip G.;
- Dalakas, Marinos C.;
- Spector, Sidney A.;
- Mendell, Jerry R.;
- Hahn, Angelika F.;
- Griggs, Robert C.
Publication type:
Article
Facioscapulohumeral dystrophy: A distinct regional myopathy with a novel molecular pathogenesis.
Published in:
Annals of Neurology, 1998, v. 43, n. 3, p. 279, doi. 10.1002/ana.410430303
By:
- Tawil, Rabi;
- Figlewicz, Denise A.;
- Griggs, Robert C.;
- Weiffenbach, Barbara
Publication type:
Article
Evidence for anticipation and association of deletion size with severity in facioscapulohumerd muscular dystrophy.
Published in:
Annals of Neurology, 1996, v. 39, n. 6, p. 744, doi. 10.1002/ana.410390610
By:
- Tawil, Rabi;
- Forrester, James;
- Griggs, Robert C.;
- Mendell, Jerry;
- Kissel, John;
- McDermott, Michael;
- King, Wendy;
- Weiffenbach, Barbara;
- Figlewicz, Denise
Publication type:
Article
Reply.
Published in:
Annals of Neurology, 1994, v. 36, n. 2, p. 253, doi. 10.1002/ana.410360224
By:
- Tawil, Rabi;
- Ptacek, Louis J;
- Pavlakis, Steven G.;
- DeVivo, Darryl C.;
- Penn, Audrey S.;
- Öuzdemir, Coskun;
- Griggs, Robert C.
Publication type:
Article
Andersen's syndrome: Potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features.
Published in:
Annals of Neurology, 1994, v. 35, n. 3, p. 326, doi. 10.1002/ana.410350313
By:
- Tawil, Rabi;
- Ptacek, Louis J.;
- Pavlakis, Steven G.;
- DeVivo, Darryl C.;
- Penn, Audrey S.;
- Özdemir, Coskun;
- Griggs, Robert C.
Publication type:
Article
A feedback loop between nonsense-mediated decay and the retrogene DUX4 in facioscapulohumeral muscular dystrophy.
Published in:
eLife, 2015, p. 1, doi. 10.7554/eLife.04996.001
By:
- Qing Feng;
- Snider, Lauren;
- Jagannathan, Sujatha;
- Tawil, Rabi;
- van der Maarel, Silvère M.;
- Tapscott, Stephen J.;
- Bradley, Robert K.
Publication type:
Article
Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial.
Published in:
2022
By:
- Guglieri, Michela;
- Bushby, Kate;
- McDermott, Michael P.;
- Hart, Kimberly A.;
- Tawil, Rabi;
- Martens, William B.;
- Herr, Barbara E.;
- McColl, Elaine;
- Speed, Chris;
- Wilkinson, Jennifer;
- Kirschner, Janbernd;
- King, Wendy M.;
- Eagle, Michelle;
- Brown, Mary W.;
- Willis, Tracey;
- Griggs, Robert C.;
- Straub, Volker;
- van Ruiten, Henriette;
- Childs, Anne-Marie;
- Ciafaloni, Emma
Publication type:
journal article
Relationship of DUX4 and target gene expression in FSHD myocytes.
Published in:
Human Mutation, 2021, v. 42, n. 4, p. 421, doi. 10.1002/humu.24171
By:
- Chau, Jonathan;
- Kong, Xiangduo;
- Nguyen, Nam;
- Williams, Katherine;
- Ball, Miya;
- Tawil, Rabi;
- Kiyono, Tohru;
- Mortazavi, Ali;
- Yokomori, Kyoko
Publication type:
Article
Analysis of allele-specific RNA transcription in FSHD by RNA-DNA FISH in single myonuclei.
Published in:
European Journal of Human Genetics, 2010, v. 18, n. 4, p. 448, doi. 10.1038/ejhg.2009.183
By:
- Masny, Peter S.;
- Chan, On Ying A.;
- de Greef, Jessica C.;
- Bengtsson, Ulla;
- Ehrlich, Melanie;
- Tawil, Rabi;
- Lock, Leslie F.;
- Hewitt, Jane E.;
- Stocksdale, Jennifer;
- Martin, Jorge H.;
- van der Maarel, Silvere M.;
- Winokur, Sara T.
Publication type:
Article
Comprehensive expression analysis of FSHD candidate genes at the mRNA and protein level.
Published in:
European Journal of Human Genetics, 2009, v. 17, n. 12, p. 1615, doi. 10.1038/ejhg.2009.62
By:
- Klooster, Rinse;
- Straasheijm, Kirsten;
- Shah, Bharati;
- Sowden, Janet;
- Frants, Rune;
- Thornton, Charles;
- Tawil, Rabi;
- van der Maarel, Silvère
Publication type:
Article
Splicing biomarkers of disease severity in myotonic dystrophy.
Published in:
Annals of Neurology, 2013, v. 74, n. 6, p. 862, doi. 10.1002/ana.23992
By:
- 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, Richard T.;
- Thornton, Charles A.
Publication type:
Article
A checklist for clinical trials in rare disease: obstacles and anticipatory actions-lessons learned from the FOR-DMD trial.
Published in:
2018
By:
- Crow, Rebecca A;
- Hart, Kimberly A;
- McDermott, Michael P;
- Tawil, Rabi;
- Martens, William B;
- Herr, Barbara E;
- McColl, Elaine;
- Wilkinson, Jennifer;
- Kirschner, Janbernd;
- King, Wendy M;
- Eagle, Michele;
- Brown, Mary W;
- Hirtz, Deborah;
- Lochmuller, Hanns;
- Straub, Volker;
- Ciafaloni, Emma;
- Shieh, Perry B;
- Spinty, Stefan;
- Childs, Anne-Marie;
- Manzur, Adnan Y
Publication type:
journal article
Clinical trial readiness to solve barriers to drug development in FSHD (ReSolve): protocol of a large, international, multi-center prospective study.
Published in:
2019
By:
- LoRusso, Samantha;
- Johnson, Nicholas E.;
- McDermott, Michael P.;
- Eichinger, Katy;
- Butterfield, Russell J.;
- Carraro, Elena;
- Higgs, Kiley;
- Lewis, Leann;
- Mul, Karlien;
- Sacconi, Sabrina;
- Sansone, Valeria A.;
- Shieh, Perry;
- van Engelen, Baziel;
- Wagner, Kathryn;
- Wang, Leo;
- Statland, Jeffrey M.;
- Tawil, Rabi;
- ReSolve Investigators and the FSHD CTRN18
Publication type:
journal article
DUX4 Binding to Retroelements Creates Promoters That Are Active in FSHD Muscle and Testis.
Published in:
PLoS Genetics, 2013, v. 9, n. 11, p. 1, doi. 10.1371/journal.pgen.1003947
By:
- Young, Janet M.;
- Whiddon, Jennifer L.;
- Yao, Zizhen;
- Kasinathan, Bhavatharini;
- Snider, Lauren;
- Geng, Linda N.;
- Balog, Judit;
- Tawil, Rabi;
- van der Maarel, Silvère M.;
- Tapscott, Stephen J.
Publication type:
Article
Intrinsic Epigenetic Regulation of the D4Z4 Macrosatellite Repeat in a Transgenic Mouse Model for FSHD.
Published in:
PLoS Genetics, 2013, v. 9, n. 4, p. 1, doi. 10.1371/journal.pgen.1003415
By:
- Krom., Yvonne D.;
- Thijssen., Peter E.;
- Young, Janet M.;
- den Hamer, Bianca;
- Balog, Judit;
- Yao, Zizhen;
- Maves, Lisa;
- Snider, Lauren;
- Knopp, Paul;
- Zammit, Peter S.;
- Rijkers, Tonnie;
- van Engelen, Baziel G. M.;
- Padberg, George W.;
- Frants, Rune R.;
- Tawil, Rabi;
- Tapscott, Stephen J.;
- van der Maarel, Silvère M.
Publication type:
Article
K-40 and Dual-Energy X-ray Absorptiometry Estimates of Lean Weight Compared: Normals and Patients with Neuromuscular Disease.
Published in:
Annals of the New York Academy of Sciences, 2000, v. 904, n. 1, p. 111, doi. 10.1111/j.1749-6632.2000.tb06431.x
By:
- FORBES, GILBERT B.;
- GRIGGS, ROBERT C.;
- MOXLEY, RICHARD T.;
- THORNTON, CHARLES T.;
- TAWIL, RABI
Publication type:
Article
The facioscapulohumeral muscular dystrophy Rasch‐built overall disability scale (FSHD‐RODS).
Published in:
European Journal of Neurology, 2021, v. 28, n. 7, p. 2339, doi. 10.1111/ene.14863
By:
- Mul, Karlien;
- Hamadeh, Tatiana;
- Horlings, Corinne G. C.;
- Tawil, Rabi;
- Statland, Jeffrey M.;
- Sacconi, Sabrina;
- Corbett, Alastair J.;
- Voermans, Nicol C.;
- Faber, Catharina G.;
- Engelen, Baziel G. M.;
- Merkies, Ingemar S. J.
Publication type:
Article
A Targeted Approach for Evaluating DUX4-Regulated Proteins as Potential Serum Biomarkers for Facioscapulohumeral Muscular Dystrophy Using Immunoassay Proteomics.
Published in:
Journal of Neuromuscular Diseases, 2023, v. 10, n. 6, p. 1031, doi. 10.3233/JND-221636
By:
- Campbell, Amy E.;
- Arjomand, Jamshid;
- King, Oliver D.;
- Tawil, Rabi;
- Jagannathan, Sujatha
Publication type:
Article
Understanding the Perseverance of the Muscular Dystrophy Community One-Year into the COVID-19 Pandemic.
Published in:
Journal of Neuromuscular Diseases, 2022, v. 9, n. 4, p. 517, doi. 10.3233/JND-220794
By:
- Lewis, Leann;
- Eichinger, Katy;
- Dilek, Nuran;
- Higgs, Kiley;
- Walker, Michaela;
- Palmer, David;
- Cooley, John M.;
- Johnson, Nicholas;
- Tawil, Rabi;
- Statland, Jeffrey
Publication type:
Article
Current Therapeutic Approaches in FSHD.
Published in:
Journal of Neuromuscular Diseases, 2021, v. 8, n. 3, p. 441, doi. 10.3233/JND-200554
By:
- Wang, Leo H.;
- Tawil, Rabi
Publication type:
Article
Model systems of DUX4 expression recapitulate the transcriptional profile of FSHD cells.
Published in:
Human Molecular Genetics, 2016, v. 25, n. 20, p. 4419, doi. 10.1093/hmg/ddw271
By:
- Jagannathan, Sujatha;
- Shadle, Sean C.;
- Resnick, Rebecca;
- Snider, Lauren;
- Tawil, Rabi N.;
- van der Maarel, Silvère M.;
- Bradley, Robert K.;
- Tapscott, Stephen J.
Publication type:
Article
DICER/AGO-dependent epigenetic silencing of D4Z4 repeats enhanced by exogenous siRNA suggests mechanisms and therapies for FSHD.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 17, p. 4817, doi. 10.1093/hmg/ddv206
By:
- Jong-Won Lim;
- Snider, Lauren;
- Zizhen Yao;
- Tawil, Rabi;
- Van Der Maarel, Silvère M.;
- Rigo, Frank;
- Bennett, C. Frank;
- Filippova, Galina N.;
- Tapscott, Stephen J.
Publication type:
Article
Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 3, p. 659, doi. 10.1093/hmg/ddu486
By:
- Lemmers, Richard J.L.F.;
- Goeman, Jelle J.;
- van der Vliet, Patrick J.;
- van Nieuwenhuizen, Merlijn P.;
- Balog, Judit;
- Vos-Versteeg, Marianne;
- Camano, Pilar;
- Ramos Arroyo, Maria Antonia;
- Jerico, Ivonne;
- Rogers, Mark T.;
- Miller, Daniel G.;
- Upadhyaya, Meena;
- Verschuuren, Jan J.G.M.;
- de Munain Arregui, Adolfo Lopez;
- van Engelen, Baziel G.M.;
- Padberg, George W.;
- Sacconi, Sabrina;
- Tawil, Rabi;
- Tapscott, Stephen J.;
- Bakker, Bert
Publication type:
Article
DUX4-induced gene expression is the major molecular signature in FSHD skeletal muscle.
Published in:
Human Molecular Genetics, 2014, v. 23, n. 20, p. 5342, doi. 10.1093/hmg/ddu251
By:
- Yao, Zizhen;
- Snider, Lauren;
- Balog, Judit;
- Lemmers, Richard J.L.F.;
- Van Der Maarel, Silvère M.;
- Tawil, Rabi;
- Tapscott, Stephen J.
Publication type:
Article
Wnt/β-catenin signaling suppresses DUX4 expression and prevents apoptosis of FSHD muscle cells.
Published in:
Human Molecular Genetics, 2013, v. 22, n. 23, p. 4661, doi. 10.1093/hmg/ddt314
By:
- Block, Gregory J.;
- Narayanan, Divya;
- Amell, Amanda M.;
- Petek, Lisa M.;
- Davidson, Kathryn C.;
- Bird, Thomas D.;
- Tawil, Rabi;
- Moon, Randall T.;
- Miller, Daniel G.
Publication type:
Article
RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy.
Published in:
Human Molecular Genetics, 2009, v. 18, n. 13, p. 2414, doi. 10.1093/hmg/ddp180
By:
- Snider, Lauren;
- Asawachaicharn, Amy;
- Tyler, Ashlee E.;
- Geng, Linda N.;
- Petek, Lisa M.;
- Maves, Lisa;
- Miller, Daniel G.;
- Lemmers, Richard J.L.F.;
- Winokur, Sara T.;
- Tawil, Rabi;
- van der Maarel, Silvère M.;
- Filippova, Galina N.;
- Tapscott, Stephen J.
Publication type:
Article
Asymmetric Bidirectional Transcription from the FSHD-Causing D4Z4 Array Modulates DUX4 Production.
Published in:
PLoS ONE, 2012, v. 7, n. 4, p. 1, doi. 10.1371/journal.pone.0035532
By:
- Block, Gregory J.;
- Petek, Lisa M.;
- Narayanan, Divya;
- Amell, Amanda M.;
- Moore, James M.;
- Rabaia, Natalia A.;
- Tyler, Ashlee;
- Van Der Maarel, Silvere M.;
- Tawil, Rabi;
- Filippova, Galina N.;
- Miller, Daniel G.
Publication type:
Article
Sex-Related Differences in Gene Expression in Human Skeletal Muscle.
Published in:
PLoS ONE, 2008, v. 3, n. 1, p. 1, doi. 10.1371/journal.pone.0001385
By:
- Welle, Stephen;
- Tawil, Rabi;
- Thornton, Charles A.
Publication type:
Article
Facioscapulohumeral Dystrophy.
Published in:
Current Neurology & Neuroscience Reports, 2016, v. 16, n. 7, p. 1, doi. 10.1007/s11910-016-0667-0
By:
- Wang, Leo;
- Tawil, Rabi
Publication type:
Article
Facioscapulohumeral muscular dystrophy.
Published in:
Current Neurology & Neuroscience Reports, 2004, v. 4, n. 1, p. 51, doi. 10.1007/s11910-004-0012-x
By:
- Tawil, Rabi
Publication type:
Article
A longitudinal study of disease progression in facioscapulohumeral muscular dystrophy (FSHD).
Published in:
Muscle & Nerve, 2024, v. 69, n. 3, p. 362, doi. 10.1002/mus.28031
By:
- Varma, Anika;
- Todinca, Michael S.;
- Eichinger, Katy;
- Heininger, Susanne;
- Dilek, Nuran;
- Martens, William;
- Tawil, Rabi;
- Statland, Jeffrey;
- Kissel, John T.;
- McDermott, Michael P.;
- Heatwole, Chad
Publication type:
Article
Milestones of progression in myotonic dystrophy type 1 and type 2.
Published in:
2022
By:
- Hamel, Johanna I.;
- McDermott, Michael P.;
- Hilbert, James E.;
- Martens, William B.;
- Luebbe, Elizabeth;
- Tawil, Rabi;
- Moxley, Richard T.;
- Thornton, Charles A.;
- Moxley, Richard T 3rd
Publication type:
journal article
Quantitative muscle analysis in facioscapulohumeral muscular dystrophy using whole‐body fat‐referenced MRI: Protocol development, multicenter feasibility, and repeatability.
Published in:
Muscle & Nerve, 2022, v. 66, n. 2, p. 183, doi. 10.1002/mus.27638
By:
- Widholm, Per;
- Ahlgren, André;
- Karlsson, Markus;
- Romu, Thobias;
- Tawil, Rabi;
- Wagner, Kathryn R.;
- Statland, Jeffrey M.;
- Wang, Leo H.;
- Shieh, Perry B.;
- van Engelen, Baziel G. M.;
- Cadavid, Diego;
- Ronco, Lucienne;
- Odueyungbo, Adefowope O.;
- Jiang, John G.;
- Mellion, Michelle L.;
- Dahlqvist Leinhard, Olof
Publication type:
Article
Randomized phase 2 study of ACE‐083, a muscle‐promoting agent, in facioscapulohumeral muscular dystrophy.
Published in:
Muscle & Nerve, 2022, v. 66, n. 1, p. 50, doi. 10.1002/mus.27558
By:
- 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
Publication type:
Article
A patient‐focused survey to assess the effects of the COVID‐19 pandemic and social guidelines on people with muscular dystrophy.
Published in:
Muscle & Nerve, 2021, v. 64, n. 3, p. 321, doi. 10.1002/mus.27349
By:
- Eichinger, Katy;
- Lewis, Leann;
- Dilek, Nuran;
- Higgs, Kiley;
- Walker, Michaela;
- Palmer, David;
- Cooley, John M.;
- Johnson, Nicholas;
- Tawil, Rabi;
- Statland, Jeffrey
Publication type:
Article
Magnetic resonance imaging correlates with electrical impedance myography in facioscapulohumeral muscular dystrophy.
Published in:
2020
By:
- Hamel, Johanna;
- Lee, Phil;
- Glenn, Melanie D.;
- Burka, Tekalign;
- Choi, In‐Young;
- Friedman, Seth D.;
- Shaw, Dennis W. W.;
- McCalley, Ayla;
- Herbelin, Laura;
- Dimachkie, Mazen M.;
- Lemmers, Richard;
- Maarel, Silvère M.;
- Barohn, Richard J.;
- Tawil, Rabi;
- Statland, Jeffrey M.;
- Choi, In-Young;
- van der Maarel, Silvère M
Publication type:
journal article
Long Exercise Test in Periodic Paralysis: A Bayesian Analysis.
Published in:
2019
By:
- Simmons, Daniel B.;
- Lanning, Julie;
- Cleland, James C.;
- Puwanant, Araya;
- Twydell, Paul T.;
- Griggs, Robert C.;
- Tawil, Rabi;
- Logigian, Eric L.
Publication type:
journal article
Electrical impedance myography in facioscapulohumeral muscular dystrophy: A 1-year follow-up study.
Published in:
2018
By:
- Mul, Karlien;
- Heatwole, Chad;
- Eichinger, Katy;
- Dilek, Nuran;
- Martens, William B.;
- Van Engelen, Baziel G. M.;
- Tawil, Rabi;
- Statland, Jeffrey M.
Publication type:
journal article
Facioscapulohumeral muscular dystrophy functional composite outcome measure.
Published in:
2018
By:
- Eichinger, Katy;
- Heatwole, Chad;
- Iyadurai, Stanley;
- King, Wendy;
- Baker, Lindsay;
- Heininger, Susanne;
- Bartlett, Amy;
- Dilek, Nuran;
- Martens, William B.;
- Mcdermott, Michael;
- Kissel, John T.;
- Tawil, Rabi;
- Statland, Jeffrey M.
Publication type:
journal article
Review of the Diagnosis and Treatment of Periodic Paralysis.
Published in:
2018
By:
- 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.
Publication type:
journal article
Episodic weakness and Charcot-marie-tooth disease due to a mitochondrial MT-ATP6 mutation.
Published in:
2017
By:
- Panosyan, Francis B.;
- Tawil, Rabi;
- Herrmann, David N.
Publication type:
case study
Validity of the 6 minute walk test in facioscapulohumeral muscular dystrophy.
Published in:
2017
By:
- Eichinger, Katy;
- Heatwole, Chad;
- Heininger, Susanne;
- Stinson, Nikia;
- Matichak Stock, Carly;
- Grosmann, Carla;
- Wagner, Kathryn R.;
- Tawil, Rabi;
- Statland, Jeffrey M.;
- FSHD Clinical Trials Research Network
Publication type:
journal article
Electrical impedance myography in facioscapulohumeral muscular dystrophy.
Published in:
2016
By:
- Statland, Jeffrey M.;
- Heatwole, Chad;
- Eichinger, Katy;
- Dilek, Nuran;
- Martens, William B.;
- Tawil, Rabi
Publication type:
journal article
Efficacy of prednisone for the treatment of ocular myasthenia (EPITOME): A randomized, controlled trial.
Published in:
2016
By:
- 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
Publication type:
journal article
Muscle pathology grade for facioscapulohumeral muscular dystrophy biopsies.
Published in:
2015
By:
- Statland, Jeffrey M.;
- Shah, Bharati;
- Henderson, Don;
- Van Der Maarel, Silvere;
- Tapscott, Stephen J.;
- Tawil, Rabi
Publication type:
journal article
BET bromodomain inhibitors and agonists of the beta-2 adrenergic receptor identified in screens for compounds that inhibit DUX4 expression in FSHD muscle cells.
Published in:
Skeletal Muscle, 2017, v. 7, p. 1, doi. 10.1186/s13395-017-0134-x
By:
- Campbell, Amy E.;
- Oliva, Jonathan;
- Yates, Matthew P.;
- Jun Wen Zhong;
- Shadle, Sean C.;
- Snider, Lauren;
- Singh, Nikita;
- Shannon Tai;
- Yosuke Hiramuki;
- Tawil, Rabi;
- van der Maarel, Silvère M.;
- Tapscott, Stephen J.;
- Sverdrup, Francis M.
Publication type:
Article

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