Rabi Tawil

Summary

Affiliation: University of Rochester
Country: USA

Publications

  1. ncbi request reprint Inclusion body myositis
    Rabi Tawil
    Department of Neurology, University of Rochester, Rochester, New York 14642, USA
    Curr Opin Rheumatol 14:653-7. 2002
  2. pmc Gene expression during normal and FSHD myogenesis
    Koji Tsumagari
    Human Genetics Program, Tulane Medical School, New Orleans, LA, USA
    BMC Med Genomics 4:67. 2011
  3. ncbi request reprint Facioscapulohumeral muscular dystrophy
    Rabi Tawil
    Department of Neurology, University of Rochester School of Medicine and Dentistry, 601 Elmwood Avenue, Box 673, Rochester, NY 14642 8673, USA
    Curr Neurol Neurosci Rep 4:51-4. 2004
  4. pmc Facioscapulohumeral muscular dystrophy
    Rabi Tawil
    University of Rochester Medical Center, Neuromuscular Disease Center, Rochester, New York 14642, USA
    Neurotherapeutics 5:601-6. 2008
  5. ncbi request reprint Facioscapulohumeral muscular dystrophy
    Rabi Tawil
    University of Rochester Medical Center, Neuromuscular Disease Center, P O Box 673, 601 Elmwood Avenue, Rochester, New York 14642, USA
    Muscle Nerve 34:1-15. 2006
  6. doi request reprint Comparison of outcome measures from a trial of mycophenolate mofetil in myasthenia gravis
    Gil I Wolfe
    Department of Neurology, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, Texas 75390 8897, USA
    Muscle Nerve 38:1429-33. 2008
  7. ncbi request reprint Diagnostic odyssey of patients with myotonic dystrophy
    James E Hilbert
    Department of Neurology, University of Rochester Medical Center, 601 Elmwood Ave, Box 673, Rochester, NY, 14642, USA
    J Neurol 260:2497-504. 2013
  8. pmc Reevaluating measures of disease progression in facioscapulohumeral muscular dystrophy
    Jeffrey M Statland
    Department of Neurology, University of Rochester Medical Center, Rochester, NY, USA
    Neuromuscul Disord 23:306-12. 2013
  9. pmc Relation between extent of myostatin depletion and muscle growth in mature mice
    Stephen Welle
    Department of Medicine, University of Rochester Medical Center, Rochester, NY 14642, USA
    Am J Physiol Endocrinol Metab 297:E935-40. 2009
  10. pmc Skeletal muscle gene expression after myostatin knockout in mature mice
    Stephen Welle
    Department of Medicine, University of Rochester, Rochester, New York, USA
    Physiol Genomics 38:342-50. 2009

Collaborators

Detail Information

Publications31

  1. ncbi request reprint Inclusion body myositis
    Rabi Tawil
    Department of Neurology, University of Rochester, Rochester, New York 14642, USA
    Curr Opin Rheumatol 14:653-7. 2002
    ..The treatment of IBM with conventional immunosuppressive agents has been disappointing. Therapeutic approaches currently under study or consideration are beta-interferon and synthetic anabolic hormones...
  2. pmc Gene expression during normal and FSHD myogenesis
    Koji Tsumagari
    Human Genetics Program, Tulane Medical School, New Orleans, LA, USA
    BMC Med Genomics 4:67. 2011
    ..Within each repeat unit is a gene, DUX4, that can encode a protein containing two homeodomains. A DUX4 transcript derived from the last repeat unit in a contracted array is associated with pathogenesis but it is unclear how...
  3. ncbi request reprint Facioscapulohumeral muscular dystrophy
    Rabi Tawil
    Department of Neurology, University of Rochester School of Medicine and Dentistry, 601 Elmwood Avenue, Box 673, Rochester, NY 14642 8673, USA
    Curr Neurol Neurosci Rep 4:51-4. 2004
    ..Recent studies have suggested potential mechanisms through which such a distant effect could be mediated...
  4. pmc Facioscapulohumeral muscular dystrophy
    Rabi Tawil
    University of Rochester Medical Center, Neuromuscular Disease Center, Rochester, New York 14642, USA
    Neurotherapeutics 5:601-6. 2008
    ..This review discusses current management strategies in FSHD as well as potential therapeutic interventions to slow down or reverse the progressive muscle atrophy and weakness...
  5. ncbi request reprint Facioscapulohumeral muscular dystrophy
    Rabi Tawil
    University of Rochester Medical Center, Neuromuscular Disease Center, P O Box 673, 601 Elmwood Avenue, Rochester, New York 14642, USA
    Muscle Nerve 34:1-15. 2006
    ..These trials, along with a previous natural history study, have helped to better define outcome measures for future trials in FSHD as well as other dystrophies...
  6. doi request reprint Comparison of outcome measures from a trial of mycophenolate mofetil in myasthenia gravis
    Gil I Wolfe
    Department of Neurology, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, Texas 75390 8897, USA
    Muscle Nerve 38:1429-33. 2008
    ..Although a task force has recommended use of the QMG in prospective MG trials, the MMT and MG-ADL appear to be suitable alternatives and offer potential advantages. No special training or equipment is required, and they take less time...
  7. ncbi request reprint Diagnostic odyssey of patients with myotonic dystrophy
    James E Hilbert
    Department of Neurology, University of Rochester Medical Center, 601 Elmwood Ave, Box 673, Rochester, NY, 14642, USA
    J Neurol 260:2497-504. 2013
    ..Further evaluation of how to shorten these diagnostic delays and limit their impact on burdens of disease, family planning, and symptom management is needed...
  8. pmc Reevaluating measures of disease progression in facioscapulohumeral muscular dystrophy
    Jeffrey M Statland
    Department of Neurology, University of Rochester Medical Center, Rochester, NY, USA
    Neuromuscul Disord 23:306-12. 2013
    ....
  9. pmc Relation between extent of myostatin depletion and muscle growth in mature mice
    Stephen Welle
    Department of Medicine, University of Rochester Medical Center, Rochester, NY 14642, USA
    Am J Physiol Endocrinol Metab 297:E935-40. 2009
    ..These data suggest that anabolic therapies based on reducing the concentration of active myostatin will be effective only if a very large proportion of the myostatin is removed or inactivated...
  10. pmc Skeletal muscle gene expression after myostatin knockout in mature mice
    Stephen Welle
    Department of Medicine, University of Rochester, Rochester, New York, USA
    Physiol Genomics 38:342-50. 2009
    ....
  11. pmc Sex-related differences in gene expression in human skeletal muscle
    Stephen Welle
    Department of Medicine, University of Rochester, Rochester, New York, USA
    PLoS ONE 3:e1385. 2008
    ..7-fold, P<0.001) and ACVR2B (1.7-fold, P<0.03). If these sex-related differences in mRNA expression lead to reduced IGF-1 activity and increased myostatin activity, they could contribute to the sex difference in muscle size...
  12. ncbi request reprint Splicing biomarkers of disease severity in myotonic dystrophy
    Masayuki Nakamori
    Department of Neurology, University of Rochester Medical Center, Rochester, NY Center for Neural Development and Disease, University of Rochester Medical Center, Rochester, NY
    Ann Neurol 74:862-72. 2013
    ..To develop RNA splicing biomarkers of disease severity and therapeutic response in myotonic dystrophy type 1 (DM1) and type 2 (DM2)...
  13. doi request reprint Design of the efficacy of prednisone in the treatment of ocular myasthenia (EPITOME) trial
    Michael Benatar
    Department of Neurology, University of Miami, Miller School of Medicine, Miami, Florida, USA
    Ann N Y Acad Sci 1275:17-22. 2012
    ....
  14. ncbi request reprint Risk of functional impairment in Facioscapulohumeral muscular dystrophy
    Jeffrey M Statland
    Department of Neurology, University of Rochester Medical Center, 265 Crittenden Boulevard, CU 420669, Rochester, New York, 14642 0669, USA
    Muscle Nerve 49:520-7. 2014
    ..Nevertheless, little is known about the risk of developing functional impairment. Here we determine the 6-year risk of functional impairment in FSHD...
  15. doi request reprint Corticosteroids in Duchenne muscular dystrophy: major variations in practice
    Robert C Griggs
    University of Rochester, Departments of Neurology and Biostatistics, 265 Crittenden Boulevard, CU 420669, Rochester, New York, 14642, USA
    Muscle Nerve 48:27-31. 2013
    ..75 mg/kg/day is of short-term efficacy in Duchenne muscular dystrophy (DMD). Subsequent efforts to standardize care for DMD indicated wide variation in corticosteroid use...
  16. pmc Coats syndrome in facioscapulohumeral dystrophy type 1: frequency and D4Z4 contraction size
    Jeffrey M Statland
    Departments of Neurology, University of Rochester Medical Center, Rochester, NY, USA
    Neurology 80:1247-50. 2013
    ..To investigate the frequency of Coats syndrome and its association with D4Z4 contraction size in patients with facioscapulohumeral muscular dystrophy type 1 (FSHD1)...
  17. ncbi request reprint Interferon-alpha/beta-mediated innate immune mechanisms in dermatomyositis
    Steven A Greenberg
    Department of Neurology, Division of Neuromuscular Disease, Brigham and Women s Hospital and Harvard Medical School, Boston, MA 02115, USA
    Ann Neurol 57:664-78. 2005
    ....
  18. pmc Prospective cohort study of spinal muscular atrophy types 2 and 3
    Petra Kaufmann
    Department of Neurology, Columbia University, New York, USA
    Neurology 79:1889-97. 2012
    ..To characterize the natural history of spinal muscular atrophy type 2 and type 3 (SMA 2/3) beyond 1 year and to report data on clinical and biological outcomes for use in trial planning...
  19. pmc If you build a rare disease registry, will they enroll and will they use it? Methods and data from the National Registry of Myotonic Dystrophy (DM) and Facioscapulohumeral Muscular Dystrophy (FSHD)
    James E Hilbert
    Department of Neurology, University of Rochester Medical Center, Rochester, NY 14642, USA
    Contemp Clin Trials 33:302-11. 2012
    ..We also highlight data about the pathophysiology and select burdens of DM and FSHD reported at baseline and longitudinally...
  20. doi request reprint A phase I/IItrial of MYO-029 in adult subjects with muscular dystrophy
    Kathryn R Wagner
    Department of Neurology, The Johns Hopkins University School of Medicine, Baltimore, MD 21287 7519, USA
    Ann Neurol 63:561-71. 2008
    ..We conducted a safety trial of a neutralizing antibody to myostatin, MYO-029, in adult muscular dystrophies (Becker muscular dystrophy, facioscapulohumeral dystrophy, and limb-girdle muscular dystrophy)...
  21. ncbi request reprint Muscle growth after postdevelopmental myostatin gene knockout
    Stephen Welle
    Department of Medicine, University of Rochester, Rochester, NY, USA
    Am J Physiol Endocrinol Metab 292:E985-91. 2007
    ..We conclude that, even after developmental muscle growth has ceased, knockout of the myostatin gene induces a significant increase in muscle mass...
  22. doi request reprint Patient-identified disease burden in facioscapulohumeral muscular dystrophy
    Nicholas E Johnson
    Department of Neurology, University of Rochester, 601 Elmwood Avenue, P O Box 673, Rochester, New York 14642, USA
    Muscle Nerve 46:951-3. 2012
    ..The multitude of symptoms associated with facioscapulohumeral muscular dystrophy (FSHD) disease burden are of varying importance. The extent of these symptoms and their cumulative effect on the FSHD population is unknown...
  23. doi request reprint Facioscapulohumeral muscular dystrophy: molecular pathological advances and future directions
    Jeffrey M Statland
    Department of Neurology, University of Rochester Medical Center, Rochester, New York, USA
    Curr Opin Neurol 24:423-8. 2011
    ..Recent advances have provided a model for understanding the underlying molecular genetic changes in facioscapulohumeral muscular dystrophy (FSHD). This review will highlight our current understanding and future research directions...
  24. doi request reprint Less is more, or almost as much: a 15-item quality-of-life instrument for myasthenia gravis
    Ted M Burns
    Department of Neurology, University of Virginia, Charlottesville, PO Box 800394, Charlottesville, Virginia 22908, USA
    Muscle Nerve 38:957-63. 2008
    ..Because the MG-QOL15 instrument can be quickly and easily administered and interpreted, it is a potential QOL measure for treatment trials and the clinical evaluation of patients with MG...
  25. ncbi request reprint Facioscapulohumeral dystrophy
    Shree Pandya
    School of Medicine and Dentistry, University of Rochester, Rochester, NY 14627, USA
    Phys Ther 88:105-13. 2008
    ..The purposes of this article are to increase awareness of FSHD among clinicians; to provide an update regarding the genetics, clinical features, natural history, and current management of FSHD; and to discuss opportunities for research...
  26. ncbi request reprint Facioscapulohumeral muscular dystrophy (FSHD) myoblasts demonstrate increased susceptibility to oxidative stress
    Sara T Winokur
    Department of Biological Chemistry, 240D, Medical Sciences I, University of California, Irvine, CA 92697, USA
    Neuromuscul Disord 13:322-33. 2003
    ....
  27. pmc Epigenetics of a tandem DNA repeat: chromatin DNaseI sensitivity and opposite methylation changes in cancers
    Koji Tsumagari
    Human Genetics Program and Department of Biochemistry and Tulane Cancer Center, Tulane Medical School, Department of Mathematics, Tulane University, New Orleans, LA 70112, USA
    Nucleic Acids Res 36:2196-207. 2008
    ..This subregion contains runs of G that form G-quadruplexes in vitro. Unusual DNA structures might contribute to topological constraints that link short 4q D4Z4 arrays to FSHD and make long ones phenotypically neutral...
  28. doi request reprint Inclusion body myositis functional rating scale: a reliable and valid measure of disease severity
    C E Jackson
    University of Texas Health Science Center, San Antonio, TX, USA
    Muscle Nerve 37:473-6. 2008
    ..Compared to these other outcome measures, the IBMFRS was also the most sensitive measure of change over the course of the study...
  29. ncbi request reprint Management and treatment of Andersen-Tawil syndrome (ATS)
    Valeria Sansone
    Department of Neurology, University of Milan, IRCCS Policlinico San Donato, Milan, Italy 20097
    Neurotherapeutics 4:233-7. 2007
    ..We review the clinical, laboratory, and genetic features of this disorder with particular emphasis on treatment and management...

Research Grants3

  1. INCLUSION BODY MYOSITIS--PILOT STUDY OF B INTERFERON 1A
    Rabi Tawil; Fiscal Year: 1999
    ..The testing methods have been validated by the investigators in other studies of muscle disease. The information obtained in this study will be essential for the effective design and conduct of pivotal trials in IBM. ..
  2. INCLUSION BODY MYOSITIS: PILOT STUDY OF B-INTERFERONLA
    Rabi Tawil; Fiscal Year: 2001
    ..The testing methods have been validated by the investigators in other studies of muscle disease. The information obtained in this study will be essential for the effective design and conduct of pivotal trials in IBM. ..
  3. INCLUSION BODY MYOSITIS: PILOT STUDY OF B-INTERFERON 1A
    Rabi Tawil; Fiscal Year: 2002
    ..The testing methods have been validated by the investigators in other studies of muscle disease. The information obtained in this study will be essential for the effective design and conduct of pivotal trials in IBM. ..