Alrabi N Tawil MD

PubMed

• SMCHD1 maintains heterochromatin, genome compartments and epigenome landscape in human myoblasts.
  Zhijun Huang, Wei Cui, Ishara Ratnayake, Kristin L Gallik, Lorna Cohen
  Nature Communications. 2025-07-26
• 2 citations
  Three-dimensional tissue engineered skeletal muscle modelling facioscapulohumeral muscular dystrophy.
  Marnix Franken, Erik van der Wal, Dongxu Zheng, Bianca den Hamer, Patrick J van der Vliet
  Brain. 2025-05-13
• Concurrent Inclusion Body Myositis and Late Onset Pompe Disease: A Case Report.
  Brianna N Brun, Alexander Tran, Lauren B Adams, Rabi N Tawil, Eric L Logigian
  Muscle & Nerve. 2025-05-03

Journal Articles

• The authorship lottery: an impediment to research collaboration?  
  Kaufmann P, Annis C, Griggs RC; Muscle Study Group Executive Committee, Ann Neurol, 12/1/2010
• What determines quality of life in inclusion body myositis?  
  Sadjadi R, Rose MR; Muscle Study Group, J Neurol Neurosurg Psychiatry, 10/1/2010
• DNaseI hypersensitivity at gene-poor, FSH dystrophy-linked 4q352  
  Xu X, Tsumagari K, Sowden J, Tawil R, Boyle AP, Song L, Furey TS, Crawford GE, Ehrlich M, Nucleic Acids Res, 12/1/2009
• Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD  
  de Greef JC, Lemmers RJ, van Engelen BG, Sacconi S, Venance SL, Frants RR, Tawil R, van der Maarel SM, Hum Mutat, 10/1/2009
• Skeletal muscle gene expression aftermyostatin knockout in mature mice  
  Welle S, Cardillo A, Zanche M, Tawil R, Physiol Genomics, 8/7/2009
• Comparison of outcome measures from a trial of mycophenolate mofetil in myasthenia gravis  
  Wolfe GI, Barohn RJ, Sanders DB, McDermott MP; Muscle Study Group, Muscle Nerve, 11/1/2008
• A trial of mycophenolate mofetil with prednisone as initial immunotherapy in myasthenia gravis  
  Muscle Study Group, Neurology, 8/1/2008
• Inclusion body myositis functional rating scale: a reliable and valid measure of disease severity  
  Jackson CE, Barohn RJ, Gronseth G, Pandya S, Herbelin L; Muscle Study Group, Muscle Nerve, 4/1/2008
• Facioscapulohumeral dystrophy  
  Pandya S, King WM, Tawil R, Phys Ther, 1/1/2008
• Management and treatment of Andersen-Tawil syndrome (ATS)  
  Sansone V, Tawil R, Neurotherapeutics, 4/1/2007
• Neurologic channelopathies: evolving concepts and therapeutic challenges  
  Tawil R, Cannon SC, Neurotherapeutics, 1/1/2007
• Andersen-Tawil Syndrome  
  Statland JM, Tawil R, Venance SL, GeneReviews, 11/22/2004
• SCN4A-associated hypokalemic periodic paralysis merits a trial of acetazolamide  
  Venance SL, Jurkat-Rott K, Lehmann-Horn F, Tawil R, Neurology, 11/1/2004
• Drug treatment for facioscapulohumeral muscular dystrophy  
  Rose MR, Tawil R, Cochrane Database Syst Rev, 1/1/2004
• Outlook for therapy in the muscular dystrophies  
  Tawil R, Semin Neurol, 1/1/1999
• A prospective, quantitative study of the natural history of facioscapulohumeral muscular dystrophy (FSHD): Implications for therapeutic trials  
  The FSH-DY Group (R Tawil, Rochester PI), Neurology, 1/1/1997
• Monozygotic twins with facioscapulohumeral dystrophy (FSHD): Implications for genotype/phenotype correlation  
  Griggs RC, Tawil R, McDermott M, Forrester J, Figlewicz D, Weiffenbach B, and the FSH-DY Group, Muscle Nerve, 1/1/1995
• Andersen's Syndrome? or Klein-Lisak-Andersen Syndrome? (Letter)  
  Tawil R, Ptacek LJ, Pavlakis SG, DeVivo DC, Penn AS, Ozdemir C, Griggs RC, Ann Neurol, 1/1/1994
• Polysensory interactions on single neurons of cat inferior colliculus  
  Tawil RN, Saade NE, Bitar M, Jabbur SJ, Brain Res, 6/13/1983
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Books/Book Chapters

• Encyclopedia of Neurological Sciences 
  Chapter: Emery-Dreifuss, Facioscapulohumeral, Scapuloperoneal and Bethlem Myopathy. 
  Page 207 - 2010Statland J,Tawil REditors: Aminoff M.J. and Daroff RB.Academic Press, OxfordEdition 2nd,2014
• Neuromuscular Disorders in Clinical Practice 
  Chapter: Facioscapulohumeral muscular dystrophy. 
  Page 1251 - 1258Tawil REditors: Katirji B., Kaminski H.J. and Ruff R.L..Springer, New YorkEdition 2nd,2014
• Cardiac Electrophysiology: From Cell to Bedside 
  Chapter: VTs in Andersen-Tawil Syndrome. 
  Tristani-Firouzi M, Tawil REditors: D.P. Zipes, J. Jalife.Elsevier SaundersEdition 6th,2014
• Epstein's Inborn Errors of Development 
  Chapter: KCJN2 and the Andersen-Tawil Syndrome. 
  Renner DR, Tawil R, Tristani-Firouzi M, Ptacek LJEditors: Robert P. Erickson and Anthony Wynshaw-Boris.Oxford University PressEdition 3rd,2012
• Encyclopedia of Life Sciences 
  Chapter: Facioscapulohumeral Muscular Dystrophy. 
  Tawil R, Van der Maarel SJohn Wiley & Sons, Ltd, Chichester2011
• Neuromuscular Disorders. Neurology in Practice Series 
  Chapter: Fascioscapulohumeral muscular dystrophy. 
  Page 74 - 79Farmakidis C, Tawil REditors: R.N. Tawil and S. Venance.Blackwell publishing2011
• Neuromuscular Disorders. Neurology in Practice Series 
  Chapter: Neuromuscular diseases: Approach to clinical diagnosis. 
  Page 1 - 5Venance S, Tawil REditors: R.N. Tawil and S. Venance.Blackwell publishing2011
• The 5-Minute Neurology Consult 
  Chapter: Muscular Dystrophy, Facioscapulohumeral. 
  Page 286 - 287Cleland J, Tawil REditors: Lynn DJ, Newton HB, Rae-Grant AD.Lippincott Williams & Wilkins, Philadelphia, PA2004
• Current Neurology and Neuroscience Reports 
  Chapter: Facioscapulohumeral Muscular Dystrophy. 
  Tawil R2004
• The Molecular and Genetic Basis of Neurologic and Psychiatric Disease 
  Chapter: Facioscapulohumeral Dystrophy. 
  Page 519 - 525Tawil REditors: Rosenburg RN, Prusiner SB, DiMauro S, Barchi RL, Nestler EJ.Butterworth Heinemann, Philadelphia, PAEdition 3rd,2003
• Inborn Errors of Development: The Molecular Basis of Clinical Disorders of Morphogenesis 
  Chapter: KCNJ2 (KIR2.1) and the Andersen Syndrome. 
  Renner DR, Tawil R, Tristani-Firouzi M, Ptacek LEditors: Epstein CJ, Erickson RP, Wynshaw-Boris A.Oxford University Press2003
• Neuromuscular Disorders in Clinical Practice 
  Chapter: Facioscapulohumeral muscular dystrophy (FSHD). 
  Page 1072 - 1077Tawil REditors: Katirji B, Kaminski HJ, Preston DC, Ruff RL, Shapiro BE.Butterworth Heinemann, Woburn, MA2002
• Current Therapy in Neurologic Disease 
  Chapter: Periodic Paralysis. 
  Page 422 - 424Tawil REditors: Johnson RT, Griggin JW, McArthur JC.Mosby, St. Louis2002
• Disorders of Voluntary Muscle 
  Chapter: Facioscapulohumeral muscular dystrophy. 
  Page 464 - 470Tawil R, Griggs RCEditors: Karpati G, Hilton-Jones D, Griggs RC.Cambridge University Press, Cambridge2001
• Channelopathies of the Nervous System 
  Chapter: The periodic paralyses: hyperkalaemic and hypokalemic paralysis. 
  Page 158 - 166Tawil REditors: Rose MR and Griggs RC.Butterworth-Heinemann, Oxford, Woburn2001
• Neurogenetics 
  Chapter: Channelopathies. 
  Page 45 - 60Tawil R, Griggs RC, Rose MEditors: Pulst SM.EA Davis Company2000
• Pediatric Neurology 
  Chapter: Channelopathies: myotonic disorders and periodic paralysis. 
  Page 1299 - 1310Moxley III RT, Tawil R, Thornton CAEditors: Swaiman KF and Ashwal S.Mosby, St LouisEdition 3rd,1999
• Seminars in Neurology 
  Chapter: Outlook for therapy in the muscular dystrophies. 
  Page 81 - 86Tawil REditors: Kissel J, Mendell JR.Theim, New York1999
• The Molecular and Genetic Basis of Neurological Disease 
  Chapter: Facioscapulohumeral muscular dystrophy. 
  Page 931 - 938Tawil R, Griggs RCEditors: Rosenberg RN.Butterworth-Heinemann Publishers1997
• Handbook of Muscle Diseases 
  Chapter: Hypokalemic periodic paralysis. 
  Page 329 - 337Tawil R, Griggs RCEditors: Lane RJM.Marcel Dekker, Basel1996
• Recent Advances in Clinical Neurophysiology 
  Chapter: Implications of the molecular defects for classification and treatment of periodic paralysis. 
  Page 160 - 169Griggs RC, Tawil R, Brown RH, et alEditors: Kimura J and Shibasaki H.Elsevier Science B.V.1996
• Current Neurology 
  Chapter: Myotonic Disorders. 
  Page 1 - 28Moxley RT, Griggs RC, Tawil REditors: Appel SH.Mosby Year Book, Chicago1995
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Abstracts/Posters

• Clinical and Molecular Biomarkers in FSHD.
  Tawil R, New Directions in Biology and Disease of Skeletal Muscle Conference, Chicago, IL, 6/29/2014
• Trial Readiness in FSHD.
  Tawil R, TREAT-NMD Alliance Conference, Newcastle, UK, 10/30/2013
• FSHD Therapeutics: Opportunities and Challenges.
  Tawil R, Muscle Study Group Annual Meeting, Oxford, UK, 9/16/2013
• Defining Workshop Aims.
  Tawil R, Clinical Trial Readiness Workshop in FSHD, Leiden, The Netherlands, 4/8/2013
• Advances in FSHD Research & Genetic Testing.
  Tawil R, FSH Society International Patient & Research Network Meeting, Las Vegas, NV, 7/31/2010
• New Findings in FSHD.
  Tawil R, MRC/MDC UK Neuromuscular Translational Research Conference, Oxford, UK, 3/26/2010
• FSHD: Clinical Trial Readiness.
  Tawil R, 171st International ENMC Workshop, Naarden, The Netherlands, 1/15/2010
• FSHD Clinical Manifestations & Molecular Genetics: An Update.
  Tawil R, 9th Congress of Mediterranean Society of Myology, Cyprus, 3/19/2009
• Molecular Pathophysiology of FSHD.
  Tawil R, Wellstone Seminar, John Hopkins Hospital, Baltimore, MD, 2/2/2009
• Mechanisms of Disease in Facioscapulohumeral Muscular Dystrophy (FSHD).
  Tawil R, New Directions in Biology and Disease of Skeletal Muscle, New Orleans, LA, 4/27/2008
• FSHD: Natural History Studies.
  Tawil R, St. Radboud University Medical Center, Nijmegen, The Netherlands, 11/4/2007
• FSHD Research in the USA.
  Tawil R, Dutch FSH Symposium, Vlaardingen, The Netherlands, 11/2/2007
• Periodic Paralysis and Non-Dystrophic Myotonias.
  Tawil R, Neurogenetics for the Practitioner Course, New York University School of Medicine, New York, NY, 11/9/2006
• FSH Dystrophy: Chipping Away at an Intractable Mystery.
  Tawil R, Frontiers in Neuroscience, UCSF, San Francisco, CA, 1/26/2005
• Update on Facioscapulohumeral Muscular Dystrophy.
  Tawil R, FSH Society Patient Day Conference, Rockville, MD, 10/13/2002
• Role of DEXA scan in neuromuscular disorders.
  Tawil R, MSG Annual Meeting, Beaver Hollow, NY, 9/20/2002
• Therapeutic Trials in Periodic Paralysis: Andersen's Syndrome.
  Tawil R, ENMC International Workshop, Naarden, The Netherlands, 3/24/2001
• Therapeutic Trials in Periodic Paralysis: Measuring Attack Frequency & Severity.
  Tawil R, ENMC International Workshop, Naarden, The Netherlands, 11/25/2000
• FSHD: Diagnostic Criteria Revisited.
  Tawil R, Third International Conference on the Cause and Treatment of FSH Dystrophy, Campus of the National Institutes of Health, Bethesda, MD, 5/8/2000
• Outlook for therapy for the muscular dystrophies.
  Tawil R, American Academy of Neuro­logy Course: Update on Myopathies, AAN 51th Annual Meeting, Toronto, Canada, 4/24/1999
• Current and potential treatments of the muscular dystrophies.
  Tawil R, AAN Annual Meeting, 4/19/1999
• Clinical Diagnostic Criteria and the FSHD Patient.
  Tawil R, International Conference on the Cause and Treatment of FSH Dystrophy, AAN Satellite Symposium, Boston, 4/12/1997
• Evaluation and treatment of muscle cramps.
  Tawil R, Neurology For The Primary Care Physician, SUNY, Syracuse, NY, 5/17/1996
• Open label trial of Predni­sone in Facioscapulohumeral dystrophy (FSHD).
  Tawil R, McDermott M, Griggs RC and FSH-DY Group, ANA Annual Meeting, Seattle, WA, 5/11/1995
• Twins discordant for FSH muscular dystrophy. Unusual diagnostic and management problems in neuromuscular disease I.
  Tawil R, AAN Meeting, New York, NY, 4/26/1993
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Lectures

• Clinical Trials: Current and Impending; 2016 Patient Connect 
  https://www.youtube.com/watch?v=Ao7t5yb0RsI - 12/1/2016
• FSHD: Clinical Manifestations and Care Guidelines; FSHDGlobalResearch, Australia 
  https://www.youtube.com/watch?v=PReXnyvm9nQ - 10/18/2015
• FSHD Evidence-based Care Guidelines; FSH Society podcast 
  https://www.youtube.com/watch?v=ekE3PSw65to - 10/1/2015
• Neurology Grand Rounds: "FSHD: Translating Genetic Discoveries into Treatment" 
  SUNY Downstate Medical Center, New York, NY - 6/14/2013
• Neurology Grand Rounds: "Translating FSHD Genetics into Treatments." 
  UT San Antonio, TX - 6/7/2013
• Neurology Grand Rounds: "FSHD: Translating Genetic Discoveries into Treatments." 
  Ohio State University, Columbus, OH - 12/11/2012
• Grand Rounds: "FSH Dystrophy: Teaching an Old Gene New Tricks." 
  Department of Neurology, University of Rochester Medical Center - 10/12/2012
• "FSHD: State of the Art" (Invited Speaker) 
  Orlando, FL - 10/3/2012
• "FSHD: Clinical and Genetic Update." 
  University of Rochester Medical Center - 5/12/2012
• "Things to do before you die: Get a disease named after you." 
  1/30/2012
• "Amyotrophic Lateral Sclerosis." 
  11/1/2011
• Junk DNA and Disease: How a Dormant Gene Causes Muscular Dystrophy. 
  3/18/2011
• "Keynote Speaker" 
  BBRI NIH NICHD Senator Paul D. Wellstone Muscular Dystrophy Cooperative Research Center for FSHD, Wa - 5/25/2010
• "Pathophysiology of FSHD: An Update." 
  Albany Medical Center, Albany, NY - 5/21/2009
• "Andersen Tawil Syndrome." 
  University of Rochester Medical Center - 1/9/2009
• Pediatric Neurology Grand Rounds: "Periodic Paralysis and Non-Dystrophic Myotonias." 
  Schneider Children's Hospital,North shore-Long Island Jewish Health System - 1/1/2009
• "FSHD: Clinical and Research Update" 
  University of Rochester Medical Center, Rochester, NY - 10/24/2008
• "MSG Coordination Center." 
  Beaver Hollow, NY - 9/16/2008
• "Fields Center for FSHD and Neuromuscular Research" 
  Bethesda, MD - 6/23/2008
• Neuroscience Grand Rounds: "Neuromuscular Channelopathies" 
  Upstate Medical University, Syracuse, NY - 5/16/2007
• Neurology Grand Rounds"The periodic paralysis: Evolving clinical and molecular concepts." 
  Cleveland Clinic Foundations, Cleveland, OH - 10/25/2005
• "Recent Advances in Facioscapulohumeral Muscular Dystrophy." 
  London, Ontario, Canada - 2/5/2005
• "Facioscapulohumeral Muscular Dystrophy" (Guest Speaker) 
  Toronto, Canada - 10/23/2004
• "Andersen's Syndrome." 
  University of Rochester Medical Center - 8/20/2004
• "Facioscapulohumeral Muscular Dystrophy (FSHD): Untangling a Molecular Enigma" 
  University of Rochester Medical Center - 3/1/2004
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Other

• Facioscapulohumeral muscular dystrophy: molecular pathological advances and future directions. 
  Tawil R, Statland J, AANEM Physician Podcasts
  https://www.aanem.org/Education/CME-Opportunities/PhyPodcasts-(1).aspx?page=4&fileid=965
  11/9/2012
• CD ROM: "Facioscapulohumeral mususcular dystrophy.; Gilman S, Goldstein GW, Waxman SG, eds; Neurobase; San Diego: Arbor Publishing" 
  Tawil R, Medlink
  1/1/2011
• Facioscapulohumeral muscular dystrophy. 
  Tawil R, AANEM Physician Podcasts
  http://www.aanem.org/Education/CME-Opportunities/PhyPodcasts-(1).aspx?fileid=345
  9/4/2006
• "Andersen-Tawil Syndrome.; Pagon RA, Bird TD, Dolan CR, Stephens K, editors" 
  Tawil R, Venance SL, GeneReviews (Internet)
  University of Washington, Seattle, WA - 11/22/2004
• CD ROM: "Periodic paralyses and associated disorders, Gilman S, Goldstein GW, Waxman SG, eds; Neurobase; San Diego: Arbor Publishing" 
  Tawil R, Mankodi A, Medlink, 2000-2003 (updated yearly)
  1/1/2004
• "Facioscapulohumeral Muscular Dystrophy" 
  Figlewicz D, Tawil R, GeneReviews
  http://www.geneclinics.org/profiles/fsh/details.html
  University of Washington, Seattle - 3/8/1999
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