AlrabiNTawilMD

PubMed

• 25 citations
  Single-nucleus RNA-seq identifies divergent populations of FSHD2 myotube nuclei.
  Shan Jiang, Katherine Williams, Xiangduo Kong, Weihua Zeng, Nam Nguyen
  Plos Genetics. 2020-05-04
• 32 citations
  Model systems of DUX4 expression recapitulate the transcriptional profile of FSHD cells.
  Sujatha Jagannathan, Sean C Shadle, Rebecca Resnick, Lauren Snider, Rabi N Tawil
  Human Molecular Genetics. 2016-10-15
• 143 citations
  Validation of the Expanded Hammersmith Functional Motor Scale in Spinal Muscular Atrophy Type II and III
  Allan M. Glanzman, Jessica O'Hagen, Michael P. McDermott, William B. Martens, Jean Flickinger
  Journal of Child Neurology. 2011-09-21

Journal Articles

• Observational study of spinal muscular atrophy type 2 and 3: functional outcomes over 1 year  
  Kaufmann P, McDermott MP, Darras BT, Finkel R, Kang P, Oskoui M, Constantinescu A, Sproule DM, Foley AR, Yang M, Tawil R, Chung W, Martens B, Montes J, O'Hagen J, Duna..., Arch Neurol, 6/1/2011
• Facioscapulohumeral muscular dystrophy and DUX4: breaking the silence  
  van der Maarel SM, Tawil R, Tapscott SJ, Trends Mol Med, 5/1/2011
• The authorship lottery: an impediment to research collaboration?  
  Kaufmann P, Annis C, Griggs RC; Muscle Study Group Executive Committee, Ann Neurol, 12/1/2010
• Clinical features of facioscapulohumeral muscular dystrophy 2  
  de Greef JC, Lemmers RJ, Camano P, Day JW, Sacconi S, Dunand M, van Engelen BG, Kiuru-Enari S, Padberg GW, Rosa AL, Desnuelle C, Spuler S, Tarnopolsky M, Venance SL, F..., Neurology, 10/26/2010
• Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene  
  Snider L, Geng LN, Lemmers RJ, Kyba M, Ware CB, Nelson AM, Tawil R, Filippova GN, van der Maarel SM, Tapscott SJ, Miller DG, PLoS Genet, 10/1/2010
• Association of plastin 3 expression with disease severity in spinal muscular atrophy only in postpubertal females  
  Stratigopoulos G, Lanzano P, Deng L, Guo J, Kaufmann P, Darras B, Finkel R, Tawil R, McDermott MP, Martens W, Devivo DC, Chung WK, Arch Neurol, 10/1/2010
• What determines quality of life in inclusion body myositis?  
  Sadjadi R, Rose MR; Muscle Study Group, J Neurol Neurosurg Psychiatry, 10/1/2010
• A unifying genetic model for facioscapulohumeral muscular dystrophy  
  Lemmers RJ, van der Vliet PJ, Klooster R, Sacconi S, Camano P, Dauwerse JG, Snider L, Straasheijm KR, van Ommen GJ, Padberg GW, Miller DG, Tapscott SJ, Tawil R, Frants..., Science, 9/24/2010
• Grip force, EDL contractile properties, and voluntary wheel running after postdevelopmental myostatin depletion in mice  
  Personius KE, Jayaram A, Krull D, Brown R, Xu T, Han B, Burgess K, Storey C, Shah B, Tawil R, Welle S, J Appl Physiol, 9/1/2010
• Analysis of allele-specific RNA transcription in FSHD by RNA-DNA FISH in single myonuclei  
  Masny PS, Chan OY, de Greef JC, Bengtsson U, Ehrlich M, Tawil R, Lock LF, Hewitt JE, Stocksdale J, Martin JH, van der Maarel SM, Winokur ST, Eur J Hum Genet, 4/1/2010
• Six-Minute Walk Test demonstrates motor fatigue in spinal muscular atrophy  
  Montes J, McDermott MP, Martens WB, Dunaway S, Glanzman AM, Riley S, Quigley J, Montgomery MJ, Sproule D, Tawil R, Chung WK, Darras BT, De Vivo DC, Kaufmann P, Finkel ..., Neurology, 3/9/2010
• Resuscitated sudden cardiac death in Andersen-Tawil syndrome  
  Airey KJ, Etheridge SP, Tawil R, Tristani-Firouzi M, Heart Rhythm, 12/1/2009
• 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
• Comprehensive expression analysis of FSHD candidate genes at the mRNA and protein level  
  Klooster R, Straasheijm K, Shah B, Sowden J, Frants R, Thornton C, Tawil R, van der Maarel S, Eur J Hum Genet, 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
• Relation between extent of myostatin depletion and muscle growth in mature mice  
  Welle S, Burgess K, Thornton CA, Tawil R, Am J Physiol Endocrinol Metab, 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
• RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy  
  Snider L, Asawachaicharn A, Tyler AE, Geng LN, Petek LM, Maves L, Miller DG, Lemmers RJ, Winokur ST, Tawil R, van der Maarel SM, Filippova GN, Tapscott SJ, Hum Mol Genet, 7/1/2009
• 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
• A phase I/IItrial of MYO-029 in adult subjects with muscular dystrophy  
  Wagner KR, Fleckenstein JL, Amato AA, Barohn RJ, Bushby K, Escolar DM, Flanigan KM, Pestronk A, Tawil R, Wolfe GI, Eagle M, Florence JM, King WM, Pandya S, Straub V, J..., Ann Neurol, 5/1/2008
• Epigenetics of a tandem DNA repeat: chromatin DNaseI sensitivity and opposite methylation changes in cancers  
  Tsumagari K, Qi L, Jackson K, Shao C, Lacey M, Sowden J, Tawil R, Vedanarayanan V, Ehrlich M, Nucleic Acids Res, 4/1/2008
• 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
• Sex-related differences in gene expression in human skeletal muscle  
  Welle S, Tawil R, Thornton CA, PLoS One, 1/2/2008
• Facioscapulohumeral dystrophy  
  Pandya S, King WM, Tawil R, Phys Ther, 1/1/2008
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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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