Rabi N. Tawil, M.D.

Rabi N. Tawil, M.D.

Contact Information

University of Rochester Medical Center
School of Medicine and Dentistry
601 Elmwood Ave, Box 673
Rochester, NY 14642

Office: (585) 275-2559
Fax: (585) 273-1255


Tawil, Rabi. "Facioscapulohumeral Dystrophy". The Molecular and Genetic Basis of Neurologic and Psychiatric Disease. Rosenburg RN, DiMauro S, Paulson HL, Ptacek L, Nestler EJ. Philadelphia, PA: Wolters Kluwer/Lippincott Williams & Wilkins, 2008. 542-549
Moxley III RT, Tawil R. "Channelopathies: myotonic disorders and periodic paralysis". Pediatric Neurology. Swaiman KF, Ashwal S and Ferriero DM. St. Louis: Mosby, 2006. 2085-2109
Tawil R, Cleland J. "Periodic paralyses and associated disorders". Neurobase - in Medlink CD ROM (updated yearly). Gilman S, Goldstein GW, Waxman SG. San Diego: Arbor Publishing, 2005.
Tawil R, Mankodi A. "Periodic paralyses and associated disorders". Neurobase - in Medlink CD ROM (updated yearly 2002-2004). Gilman S, Goldstein GW, Waxman SG. San Diego: Arbor Publishing, 2004.
Cleland J, Tawil R. "Muscular Dystrophy, Facioscapulohumeral". The 5-Minute Neurology Consult. Lynn DJ, Newton HB, Rae-Grant AD. Philadelphia, PA: Lippincott Williams & Wilkins, 2004. 286-287
Tawil R. "Facioscapulohumeral Dystrophy". The Molecular and Genetic Basis of Neurologic and Psychiatric Disease. Rosenburg RN, Prusiner SB, DiMauro S, Barchi RL, Nestler EJ. Philadelphia PA: Butterworth Heinemann, 2003. 519-525
Renner DR, Tawil R, Tristani-Firouzi M, Ptacek L. "KCNJ2 (KIR2.1) and the Andersen Syndrome". Inborn Errors of Development. Epstein CJ, Erickson RP, Wynshaw-Boris A. : Oxford University Press, 2003.
Tawil R. "Periodic Paralysis". Current Therapy in Neurologic Disease. Richard T. Johnson, John W. Griggin, Justin C. St. Louis: Mosby, 2002. 422-424
Tawil R. "Facioscapulohumeral muscular dystrophy (FSHD)". Neuromuscular Disorders in Clinical Practice. Katirji B, Kaminski HJ, Preston DC, Ruff RL, Shapiro BE. Woburn, MA: Butterworh Heinemann, 2002. 1072-1077
Tawil R. "The periodic paralyses: hyperkalaemic and hypokalemic paralysis". Channelopathies. Rose MR; Griggs RC. Oxford, Woburn: Butterworth-Heiinemann, 2001. 158-166
Tawil R, Griggs RC. "Facioscapulohumeral muscular dystrophy". Disorders of Voluntary Muscle. Karpati G, Hilton-Jones D, Griggs RC. Cambridge: Cambridge University Press, 2001. 464-470
Tawil R, Griggs RC, Rose M. "Channelopathies". Neurogenetics. Pulst Stefan M.. : EA Davis Company, 2000. 45-60
Moxley III RT, Tawil R, Thornton CA. "Channelopathies: myotonic disorders and periodic paralysis". Pediatric Neurology. Swaiman KF and Ashwal S. St. Louis: Mosby, 1999. 1299-1310
Tawil R, Griggs RC. "Facioscapulohumeral muscular dystrophy". The Molecular and Genetic Basis of Neurological Disease. Rosenberg RN. : Butterworth-Heinemann Publishers, 1997. 931-938
Griggs RC, Tawil R, Brown RH, et al. "Implications of molecular defects for classification & tx of periodic paralysis". Recent Advances in Clinical Neurophysiology. Kimura J and Shibasaki H. : Elsevier Science B.V, 1996. 160-169
Tawil R, Griggs RC. "Hypokalemic periodic paralysis". Handbook of Muscle Diseases. Lane RJM. Basel: Marcel Dekker, 1996. 329-337
Moxley RT; Griggs RC; Tawil R. "Myotonic Disorders". Current Neurology. Appel SH. Chicago: Mosby Year Book, 1995. 1-28

Journal Articles

Showing all 60 journal articles available.

2008 May
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." Annals of neurology. 2008 May; 63(5):561-71.
2008 Apr
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 research.. 2008 Apr; 36(7):2196-207. Epub 2008 Feb 16.
2008 Jan
Pandya S, King WM, Tawil R. "Facioscapulohumeral dystrophy." Physical therapy. 2008 Jan; 88(1):105-13. Epub 2007 Nov 06.
Welle S, Tawil R, Thornton CA. "Sex-related differences in gene expression in human skeletal muscle." PloS one. 2008 3(1):e1385. Epub 2008 Jan 02.
2007 Oct
Flickinger J, O'Hagen JM, Quigley J, Glanzman AM, Riley S, McDermott MP, Sanborn E, Ryan PA, Irvine C, Flickinger J, Martens WB, Quigley J, Annis C, Riley S, Tawil R, Sanborn E, Oskoui M, Irvine C, Darras BT, Martens WB, Finkel RS, Annis C, De Vivo DC, 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." Neuromuscular disorders : NMD. 2007 Oct; 17(9-10):693-7. Epub 2007 Jul 19.
2007 Apr
Welle S, Bhatt K, Pinkert CA, Tawil R, Thornton CA. "Muscle growth after postdevelopmental myostatin gene knockout." American journal of physiology. Endocrinology and metabolism.. 2007 Apr; 292(4):E985-91. Epub 2006 Dec 05.
2007 Apr
Sansone V, Tawil R. "Management and treatment of Andersen-Tawil syndrome (ATS)." Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics.. 2007 Apr; 4(2):233-7.
2007 Feb 20
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. Epub 2006 Dec 06.
2007 Feb 20
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. Epub 2007 Jan 17.
Tawil,R.; Cannon,S. C.;. "Neurologic channelopathies: evolving concepts and therapeutic challenges". Neurotherapeutics. 2007; 4(2): 173. Link
2006 Nov 28
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.
2006 Jul
Tawil R, Van Der Maarel SM. "Facioscapulohumeral muscular dystrophy." Muscle & nerve.. 2006 Jul; 34(1):1-15.
2006 Jan
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 : a journal of neurology. 2006 Jan; 129(Pt 1):8-17. Epub 2005 Sep 29.
2005 May 31
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. Epub 2005 May 23.
2005 May
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." Annals of neurology. 2005 May; 57(5):664-78.
2005 Apr
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." Journal of neuropathology and experimental neurology. 2005 Apr; 64(4):280-94.
2004 Nov 23
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.
2004 Nov 9
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.
2004 Aug 24
. "Randomized pilot trial of high-dose betaINF-1a in patients with inclusion body myositis." Neurology.. 2004 Aug 24; 63(4):718-20.
2004 Jan
Tawil R. "Facioscapulohumeral muscular dystrophy." Current neurology and neuroscience reports.. 2004 Jan; 4(1):51-4.
Rose,M. R.; Tawil,R.;. "Drug treatment for facioscapulohumeral muscular dystrophy". Cochrane database of systematic reviews (Online : Update Software). 2004; (2)(2): CD002276. Link
2003 Jun 10
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.
2003 May
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." Neuromuscular disorders : NMD. 2003 May; 13(4):322-33.
Tawil, R. "Commentary: Facioscapulohumeral muscular dystrophy: Untangling a molecular enigma". Neurology. 2003; 61: 151. Link
2002 Nov
Tawil R, Griggs RC. "Inclusion body myositis." Current opinion in rheumatology. 2002 Nov; 14(6):653-7.
2002 Aug
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)." The Journal of clinical investigation.. 2002 Aug; 110(3):381-8.
2001 Nov 13
. "Randomized pilot trial of betaINF1a (Avonex) in patients with inclusion body myositis." Neurology.. 2001 Nov 13; 57(9):1566-70.
2001 Oct 23
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.
2001 May 18
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.
Tim RW, Gilbert JR, Stajich JM et al. "Clinical studies in non-chromosome 4-linked facioscapulohumeral muscular dystrophy". J Clinical Neuromuscular Disease. 2001; 3: 1-7. Link
2000 May
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." Annals of the New York Academy of Sciences.. 2000 May; 904:111-4.
2000 Jan
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." Annals of neurology. 2000 Jan; 47(1):46-53.
1999 Jun 15
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." The Journal of neuroscience : the official journal of the Society for Neuroscience.. 1999 Jun 15; 19(12):4762-71.
1999 Jun 10
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.
Tawil R. "Outlook for therapy in the muscular dystrophies." Seminars in neurology. 1999 19(1):81-6.
1998 May
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.
1998 Mar
Tawil R, Figlewicz DA, Griggs RC, Weiffenbach B. "Facioscapulohumeral dystrophy: a distinct regional myopathy with a novel molecular pathogenesis. FSH Consortium." Annals of neurology. 1998 Mar; 43(3):279-82.
1997 Sep
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." Annals of neurology. 1997 Sep; 42(3):305-12.
1997 Jan
"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.
1997 Jan
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.
1997 Jan
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." Neuromuscular disorders : NMD. 1997 Jan; 7(1):33-8.
1996 Jun
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." Annals of neurology. 1996 Jun; 39(6):744-8.
1996 Mar
Griggs RC, Bender AN, Tawil R. "A puzzling case of periodic paralysis." Muscle & nerve.. 1996 Mar; 19(3):362-4.
1995 Nov
Tawil R, Myers GJ, Weiffenbach B, Griggs RC. "Scapuloperoneal syndromes. Absence of linkage to the 4q35 FSHD locus." Archives of neurology. 1995 Nov; 52(11):1069-72.
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. Supplement. 1995 2:S50-5.
1994 Aug
Haverkamp LJ, Smith RG, Appel SH. "Trial of immunosuppression in amyotrophic lateral sclerosis using total lymphoid irradiation." Annals of neurology. 1994 Aug; 36(2):253-4.
1994 Aug
Ptá?ek LJ, Tawil R, Griggs RC, Meola G, McManis P, Barohn RJ, Mendell JR, Harris C, Spitzer R, Santiago F. "Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis." Neurology.. 1994 Aug; 44(8):1500-3.
1994 Jun 17
Ptácek LJ, Tawil R, Griggs RC, Engel AG, Layzer RB, Kwieci?ski H, McManis PG, Santiago L, Moore M, Fouad G. "Dihydropyridine receptor mutations cause hypokalemic periodic paralysis." Cell. 1994 Jun 17; 77(6):863-8.
1994 Mar
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." Annals of neurology. 1994 Mar; 35(3):326-30.
1994 Mar
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." Physical therapy. 1994 Mar; 74(3):253-63.
1994 Mar
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.
1994 Jan
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." Archives of neurology. 1994 Jan; 51(1):90-4.
1993 Nov
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.
1993 Jun
Weiffenbach B, Dubois J, Storvick D, Tawil R, Jacobsen SJ, Gilbert J, Wijmenga C, Mendell JR, Winokur S, Altherr MR. "Mapping the facioscapulohumeral muscular dystrophy gene is complicated by chromsome 4q35 recombination events." Nature genetics. 1993 Jun; 4(2):165-9.
1993 Jun
Tawil R, Moxley RT, Griggs RC. "Acetazolamide-induced nephrolithiasis: implications for treatment of neuromuscular disorders." Neurology.. 1993 Jun; 43(6):1105-6.
1993 Feb
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.
Tawil R, Storvick D, Weiffenbach B, Altherr MR, Feasby TE, Griggs RC. "Chromosome 4q DNA rearrangement in monozygotic twins discordant for facioscapulohumeral muscular dystrophy." Human mutation. 1993 2(6):492-4.
1992 Feb
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.
1991 Nov 29
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.
1983 Jun 13
Tawil RN, Saadé NE, Bitar M, Jabbur SJ. "Polysensory interactions on single neurons of cat inferior colliculus." Brain research. 1983 Jun 13; 269(1):149-52.