Research Topics
Genomes and GenesSpecies | Rabi TawilSummaryAffiliation: University of Rochester Country: USA Publications
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Detail Information
Publications
Inclusion body myositisRabi 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...
Gene expression during normal and FSHD myogenesisKoji 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...
Facioscapulohumeral muscular dystrophyRabi 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...
Facioscapulohumeral muscular dystrophyRabi 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...
Facioscapulohumeral muscular dystrophyRabi 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...
Comparison of outcome measures from a trial of mycophenolate mofetil in myasthenia gravisGil 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...
Relation between extent of myostatin depletion and muscle growth in mature miceStephen 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...
Reevaluating measures of disease progression in facioscapulohumeral muscular dystrophyJeffrey M Statland
Department of Neurology, University of Rochester Medical Center, Rochester, NY, USA
Neuromuscul Disord 23:306-12. 2013....
Sex-related differences in gene expression in human skeletal muscleStephen 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...
Skeletal muscle gene expression after myostatin knockout in mature miceStephen Welle
Department of Medicine, University of Rochester, Rochester, New York, USA
Physiol Genomics 38:342-50. 2009....
Design of the Efficacy of Prednisone in the Treatment of Ocular Myasthenia (EPITOME) trialMichael Benatar
Department of Neurology, University of Miami, Miller School of Medicine, Miami, Florida, USA
Ann N Y Acad Sci 1275:17-22. 2012....
Interferon-alpha/beta-mediated innate immune mechanisms in dermatomyositisSteven 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....
Prospective cohort study of spinal muscular atrophy types 2 and 3Petra 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...
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...
A phase I/IItrial of MYO-029 in adult subjects with muscular dystrophyKathryn 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)...
Muscle growth after postdevelopmental myostatin gene knockoutStephen 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...
Coats syndrome in facioscapulohumeral dystrophy type 1: frequency and D4Z4 contraction sizeJeffrey 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)...
Patient-identified disease burden in facioscapulohumeral muscular dystrophyNicholas 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...
Facioscapulohumeral muscular dystrophy: molecular pathological advances and future directionsJeffrey 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...
Less is more, or almost as much: a 15-item quality-of-life instrument for myasthenia gravisTed 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...
Facioscapulohumeral dystrophyShree 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...
Facioscapulohumeral muscular dystrophy (FSHD) myoblasts demonstrate increased susceptibility to oxidative stressSara T Winokur
Department of Biological Chemistry, 240D, Medical Sciences I, University of California, Irvine, CA 92697, USA
Neuromuscul Disord 13:322-33. 2003....
Inclusion body myositis functional rating scale: a reliable and valid measure of disease severityC 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...
Epigenetics of a tandem DNA repeat: chromatin DNaseI sensitivity and opposite methylation changes in cancersKoji 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...
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 Grants
- INCLUSION BODY MYOSITIS: PILOT STUDY OF B-INTERFERON 1ARabi 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. ..
