Al-Rabi Tawil
| Title | Professor |
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| Institution | School of Medicine and Dentistry |
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| Department | Neurology |
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| Address | University of Rochester Medical Center
School of Medicine and Dentistry
601 Elmwood Ave, Box 673
Rochester NY 14642
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| Title | Professor |
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| Institution | School of Medicine and Dentistry |
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| Department | Pathology and Laboratory Medicine |
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| 1979 |
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| Associate Member: Sigma Xi, Emory University Chapter |
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Tawil R. Facioscapulohumeral muscular dystrophy. Neurotherapeutics. 2008 Oct; 5(4):601-6.
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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, Juneau P, Meyers K, Csimma C, Araujo T, Allen R, Parsons SA, Wozney JM, Lavallie ER, Mendell JR. A phase I/IItrial of MYO-029 in adult subjects with muscular dystrophy. Ann Neurol. 2008 May; 63(5):561-71.
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Tsumagari K, Qi L, Jackson K, Shao C, Lacey M, Sowden J, Tawil R, Vedanarayanan V, Ehrlich M. Epigenetics of a tandem DNA repeat: chromatin DNaseI sensitivity and opposite methylation changes in cancers. Nucleic Acids Res. 2008 Apr; 36(7):2196-207.
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Welle S, Tawil R, Thornton CA. Sex-related differences in gene expression in human skeletal muscle. PLoS One. 2008; 3(1):e1385.
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Pandya S, King WM, Tawil R. Facioscapulohumeral dystrophy. Phys Ther. 2008 Jan; 88(1):105-13.
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O'Hagen JM, Glanzman AM, McDermott MP, Ryan PA, Flickinger J, Quigley J, Riley S, Sanborn E, Irvine C, Martens WB, Annis C, Tawil R, Oskoui M, Darras BT, Finkel RS, De Vivo DC. An expanded version of the Hammersmith Functional Motor Scale for SMA II and III patients. Neuromuscul Disord. 2007 Oct; 17(9-10):693-7.
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Sansone V, Tawil R. Management and treatment of Andersen-Tawil syndrome (ATS). Neurotherapeutics. 2007 Apr; 4(2):233-7.
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Deak KL, Lemmers RJ, Stajich JM, Klooster R, Tawil R, Frants RR, Speer MC, van der Maarel SM, Gilbert JR. Genotype-phenotype study in an FSHD family with a proximal deletion encompassing p13E-11 and D4Z4. Neurology. 2007 Feb 20; 68(8):578-82.
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Osborne RJ, Welle S, Venance SL, Thornton CA, Tawil R. Expression profile of FSHD supports a link between retinal vasculopathy and muscular dystrophy. Neurology. 2007 Feb 20; 68(8):569-77.
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Welle S, Bhatt K, Pinkert CA, Tawil R, Thornton CA. Muscle growth after postdevelopmental myostatin gene knockout. Am J Physiol Endocrinol Metab. 2007 Apr; 292(4):E985-91.
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Ciafaloni E, Pressman EK, Loi AM, Smirnow AM, Guntrum DJ, Dilek N, Tawil R. Pregnancy and birth outcomes in women with facioscapulohumeral muscular dystrophy. Neurology. 2006 Nov 28; 67(10):1887-9.
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Tawil R, Van Der Maarel SM. Facioscapulohumeral muscular dystrophy. Muscle Nerve. 2006 Jul; 34(1):1-15.
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Venance SL, Cannon SC, Fialho D, Fontaine B, Hanna MG, Ptacek LJ, Tristani-Firouzi M, Tawil R, Griggs RC. The primary periodic paralyses: diagnosis, pathogenesis and treatment. Brain. 2006 Jan; 129(Pt 1):8-17.
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Zhang L, Benson DW, Tristani-Firouzi M, Ptacek LJ, Tawil R, Schwartz PJ, George AL, Horie M, Andelfinger G, Snow GL, Fu YH, Ackerman MJ, Vincent GM. Electrocardiographic features in Andersen-Tawil syndrome patients with KCNJ2 mutations: characteristic T-U-wave patterns predict the KCNJ2 genotype. Circulation. 2005 May 31; 111(21):2720-6.
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Greenberg SA, Pinkus JL, Pinkus GS, Burleson T, Sanoudou D, Tawil R, Barohn RJ, Saperstein DS, Briemberg HR, Ericsson M, Park P, Amato AA. Interferon-alpha/beta-mediated innate immune mechanisms in dermatomyositis. Ann Neurol. 2005 May; 57(5):664-78.
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Mancuso M, Davidzon G, Kurlan RM, Tawil R, Bonilla E, Di Mauro S, Powers JM. Hereditary ferritinopathy: a novel mutation, its cellular pathology, and pathogenetic insights. J Neuropathol Exp Neurol. 2005 Apr; 64(4):280-94.
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Venance SL, Jurkat-Rott K, Lehmann-Horn F, Tawil R. SCN4A-associated hypokalemic periodic paralysis merits a trial of acetazolamide. Neurology. 2004 Nov 23; 63(10):1977.
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Miller TM, Dias da Silva MR, Miller HA, Kwiecinski H, Mendell JR, Tawil R, McManis P, Griggs RC, Angelini C, Servidei S, Petajan J, Dalakas MC, Ranum LP, Fu YH, Ptácek LJ. Correlating phenotype and genotype in the periodic paralyses. Neurology. 2004 Nov 9; 63(9):1647-55.
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Randomized pilot trial of high-dose betaINF-1a in patients with inclusion body myositis. Neurology. 2004 Aug 24; 63(4):718-20.
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Tawil R. Facioscapulohumeral muscular dystrophy. Curr Neurol Neurosci Rep. 2004 Jan; 4(1):51-4.
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Donaldson MR, Jensen JL, Tristani-Firouzi M, Tawil R, Bendahhou S, Suarez WA, Cobo AM, Poza JJ, Behr E, Wagstaff J, Szepetowski P, Pereira S, Mozaffar T, Escolar DM, Fu YH, Ptácek LJ. PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome. Neurology. 2003 Jun 10; 60(11):1811-6.
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Winokur ST, Barrett K, Martin JH, Forrester JR, Simon M, Tawil R, Chung SA, Masny PS, Figlewicz DA. Facioscapulohumeral muscular dystrophy (FSHD) myoblasts demonstrate increased susceptibility to oxidative stress. Neuromuscul Disord. 2003 May; 13(4):322-33.
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Tawil R, Griggs RC. Inclusion body myositis. Curr Opin Rheumatol. 2002 Nov; 14(6):653-7.
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Tristani-Firouzi M, Jensen JL, Donaldson MR, Sansone V, Meola G, Hahn A, Bendahhou S, Kwiecinski H, Fidzianska A, Plaster N, Fu YH, Ptacek LJ, Tawil R. Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome). J Clin Invest. 2002 Aug; 110(3):381-8.
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Randomized pilot trial of betaINF1a (Avonex) in patients with inclusion body myositis. Neurology. 2001 Nov 13; 57(9):1566-70.
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Kissel JT, McDermott MP, Mendell JR, King WM, Pandya S, Griggs RC, Tawil R. Randomized, double-blind, placebo-controlled trial of albuterol in facioscapulohumeral dystrophy. Neurology. 2001 Oct 23; 57(8):1434-40.
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Plaster NM, Tawil R, Tristani-Firouzi M, Canún S, Bendahhou S, Tsunoda A, Donaldson MR, Iannaccone ST, Brunt E, Barohn R, Clark J, Deymeer F, George AL, Fish FA, Hahn A, Nitu A, Ozdemir C, Serdaroglu P, Subramony SH, Wolfe G, Fu YH, Ptácek LJ. Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome. Cell. 2001 May 18; 105(4):511-9.
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Forbes GB, Griggs RC, Moxley RT, Thornton CT, Tawil R. K-40 and dual-energy X-ray absorptiometry estimates of lean weight compared. Normals and patients with neuromuscular disease. Ann N Y Acad Sci. 2000 May; 904:111-4.
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Tawil R, McDermott MP, Brown R, Shapiro BC, Ptacek LJ, McManis PG, Dalakas MC, Spector SA, Mendell JR, Hahn AF, Griggs RC. Randomized trials of dichlorphenamide in the periodic paralyses. Working Group on Periodic Paralysis. Ann Neurol. 2000 Jan; 47(1):46-53.
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Bendahhou S, Cummins TR, Tawil R, Waxman SG, Ptácek LJ. Activation and inactivation of the voltage-gated sodium channel: role of segment S5 revealed by a novel hyperkalaemic periodic paralysis mutation. J Neurosci. 1999 Jun 15; 19(12):4762-71.
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Orrell RW, Tawil R, Forrester J, Kissel JT, Mendell JR, Figlewicz DA. Definitive molecular diagnosis of facioscapulohumeral dystrophy. Neurology. 1999 Jun 10; 52(9):1822-6.
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Tawil R. Outlook for therapy in the muscular dystrophies. Semin Neurol. 1999; 19(1):81-6.
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Kissel JT, McDermott MP, Natarajan R, Mendell JR, Pandya S, King WM, Griggs RC, Tawil R. Pilot trial of albuterol in facioscapulohumeral muscular dystrophy. FSH-DY Group. Neurology. 1998 May; 50(5):1402-6.
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Tawil R, Figlewicz DA, Griggs RC, Weiffenbach B. Facioscapulohumeral dystrophy: a distinct regional myopathy with a novel molecular pathogenesis. FSH Consortium. Ann Neurol. 1998 Mar; 43(3):279-82.
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Sansone V, Griggs RC, Meola G, Ptácek LJ, Barohn R, Iannaccone S, Bryan W, Baker N, Janas SJ, Scott W, Ririe D, Tawil R. Andersen's syndrome: a distinct periodic paralysis. Ann Neurol. 1997 Sep; 42(3):305-12.
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A prospective, quantitative study of the natural history of facioscapulohumeral muscular dystrophy (FSHD): implications for therapeutic trials. The FSH-DY Group. Neurology. 1997 Jan; 48(1):38-46.
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Fouad G, Dalakas M, Servidei S, Mendell JR, Van den Bergh P, Angelini C, Alderson K, Griggs RC, Tawil R, Gregg R, Hogan K, Powers PA, Weinberg N, Malonee W, Ptácek LJ. Genotype-phenotype correlations of DHP receptor alpha 1-subunit gene mutations causing hypokalemic periodic paralysis. Neuromuscul Disord. 1997 Jan; 7(1):33-8.
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Tawil R, McDermott MP, Pandya S, King W, Kissel J, Mendell JR, Griggs RC. A pilot trial of prednisone in facioscapulohumeral muscular dystrophy. FSH-DY Group. Neurology. 1997 Jan; 48(1):46-9.
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Tawil R, Forrester J, Griggs RC, Mendell J, Kissel J, McDermott M, King W, Weiffenbach B, Figlewicz D. Evidence for anticipation and association of deletion size with severity in facioscapulohumeral muscular dystrophy. The FSH-DY Group. Ann Neurol. 1996 Jun; 39(6):744-8.
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Griggs RC, Bender AN, Tawil R. A puzzling case of periodic paralysis. Muscle Nerve. 1996 Mar; 19(3):362-4.
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Tawil R, Myers GJ, Weiffenbach B, Griggs RC. Scapuloperoneal syndromes. Absence of linkage to the 4q35 FSHD locus. Arch Neurol. 1995 Nov; 52(11):1069-72.
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Griggs RC, Tawil R, McDermott M, Forrester J, Figlewicz D, Weiffenbach B. Monozygotic twins with facioscapulohumeral dystrophy (FSHD): implications for genotype/phenotype correlation. FSH-DY Group. Muscle Nerve. 1995; 2:S50-5.
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Haverkamp LJ, Smith RG, Appel SH. Trial of immunosuppression in amyotrophic lateral sclerosis using total lymphoid irradiation. Ann Neurol. 1994 Aug; 36(2):253-4.
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Ptácek LJ, Tawil R, Griggs RC, Meola G, McManis P, Barohn RJ, Mendell JR, Harris C, Spitzer R, Santiago F, et al. Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis. Neurology. 1994 Aug; 44(8):1500-3.
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Ptácek LJ, Tawil R, Griggs RC, Engel AG, Layzer RB, Kwiecinski H, McManis PG, Santiago L, Moore M, Fouad G, et al. Dihydropyridine receptor mutations cause hypokalemic periodic paralysis. Cell. 1994 Jun 17; 77(6):863-8.
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Tawil R, Ptacek LJ, Pavlakis SG, DeVivo DC, Penn AS, Ozdemir C, Griggs RC. Andersen's syndrome: potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features. Ann Neurol. 1994 Mar; 35(3):326-30.
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Personius KE, Pandya S, King WM, Tawil R, McDermott MP. Facioscapulohumeral dystrophy natural history study: standardization of testing procedures and reliability of measurements. The FSH DY Group. Phys Ther. 1994 Mar; 74(3):253-63.
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Tawil R, McDermott MP, Mendell JR, Kissel J, Griggs RC. Facioscapulohumeral muscular dystrophy (FSHD): design of natural history study and results of baseline testing. FSH-DY Group. Neurology. 1994 Mar; 44(3 Pt 1):442-6.
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Rifai Z, Klitzke M, Tawil R, Kazee AM, Shanske S, DiMauro S, Griggs RC. Dementia of adult polyglucosan body disease. Evidence of cortical and subcortical dysfunction. Arch Neurol. 1994 Jan; 51(1):90-4.
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Griggs RC, Tawil R, Storvick D, Mendell JR, Altherr MR. Genetics of facioscapulohumeral muscular dystrophy: new mutations in sporadic cases. Neurology. 1993 Nov; 43(11):2369-72.
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Tawil R, Moxley RT, Griggs RC. Acetazolamide-induced nephrolithiasis: implications for treatment of neuromuscular disorders. Neurology. 1993 Jun; 43(6):1105-6.
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Weiffenbach B, Dubois J, Storvick D, Tawil R, Jacobsen SJ, Gilbert J, Wijmenga C, Mendell JR, Winokur S, Altherr MR, et al. Mapping the facioscapulohumeral muscular dystrophy gene is complicated by chromsome 4q35 recombination events. Nat Genet. 1993 Jun; 4(2):165-9.
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Tawil R, Storvick D, Feasby TE, Weiffenbach B, Griggs RC. Extreme variability of expression in monozygotic twins with FSH muscular dystrophy. Neurology. 1993 Feb; 43(2):345-8.
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Tawil R, Storvick D, Weiffenbach B, Altherr MR, Feasby TE, Griggs RC. Chromosome 4q DNA rearrangement in monozygotic twins discordant for facioscapulohumeral muscular dystrophy. Hum Mutat. 1993; 2(6):492-4.
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Ptacek LJ, Tawil R, Griggs RC, Storvick D, Leppert M. Linkage of atypical myotonia congenita to a sodium channel locus. Neurology. 1992 Feb; 42(2):431-3.
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Ptácek LJ, George AL, Griggs RC, Tawil R, Kallen RG, Barchi RL, Robertson M, Leppert MF. Identification of a mutation in the gene causing hyperkalemic periodic paralysis. Cell. 1991 Nov 29; 67(5):1021-7.
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Tawil RN, Saadé NE, Bitar M, Jabbur SJ. Polysensory interactions on single neurons of cat inferior colliculus. Brain Res. 1983 Jun 13; 269(1):149-52.
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