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Items: 1 to 50 of 156

1.

Facioscapulohumeral Muscular Dystrophy: Update on Pathogenesis and Future Treatments.

Hamel J, Tawil R.

Neurotherapeutics. 2018 Oct 25. doi: 10.1007/s13311-018-00675-3. [Epub ahead of print] Review.

PMID:
30361930
2.

MRI-informed muscle biopsies correlate MRI with pathology and DUX4 target gene expression in FSHD.

Wang LH, Friedman SD, Shaw D, Snider L, Wong CJ, Budech CB, Poliachik SL, Gove NE, Lewis LM, Campbell AE, Lemmers RJFL, Maarel SM, Tapscott SJ, Tawil RN.

Hum Mol Genet. 2018 Oct 12. doi: 10.1093/hmg/ddy364. [Epub ahead of print]

PMID:
30312408
3.

Cis D4Z4 repeat duplications associated with facioscapulohumeral muscular dystrophy type 2.

Lemmers RJLF, van der Vliet PJ, Vreijling JP, Henderson D, van der Stoep N, Voermans N, van Engelen B, Baas F, Sacconi S, Tawil R, van der Maarel SM.

Hum Mol Genet. 2018 Oct 15;27(20):3488-3497. doi: 10.1093/hmg/ddy236.

PMID:
30281091
4.

FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation.

Mul K, Lemmers RJLF, Kriek M, van der Vliet PJ, van den Boogaard ML, Badrising UA, Graham JM Jr, Lin AE, Brand H, Moore SA, Johnson K, Evangelista T, Töpf A, Straub V, Kapetanovic García S, Sacconi S, Tawil R, Tapscott SJ, Voermans NC, van Engelen BGM, Horlings CGC, Shaw ND, van der Maarel SM.

Neurology. 2018 Aug 7;91(6):e562-e570. doi: 10.1212/WNL.0000000000005958. Epub 2018 Jul 6.

PMID:
29980640
5.

Andersen-Tawil Syndrome.

Veerapandiyan A, Statland JM, Tawil R.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2004 Nov 22 [updated 2018 Jun 7].

6.

A checklist for clinical trials in rare disease: obstacles and anticipatory actions-lessons learned from the FOR-DMD trial.

Crow RA, Hart KA, McDermott MP, Tawil R, Martens WB, Herr BE, McColl E, Wilkinson J, Kirschner J, King WM, Eagle M, Brown MW, Hirtz D, Lochmuller H, Straub V, Ciafaloni E, Shieh PB, Spinty S, Childs AM, Manzur AY, Morandi L, Butterfield RJ, Horrocks I, Roper H, Flanigan KM, Kuntz NL, Mah JK, Morrison L, Darras BT, von der Hagen M, Schara U, Wilichowski E, Mongini T, McDonald CM, Vita G, Barohn RJ, Finkel RS, Wicklund M, McMillan HJ Jr, Hughes I, Pegoraro E, Bryan Burnette W, Howard JF, Thangarajh M, Campbell C, Griggs RC, Bushby K, Guglieri M.

Trials. 2018 May 10;19(1):291. doi: 10.1186/s13063-018-2645-0. Review.

7.

Long Exercise Test in Periodic Paralysis: A Bayesian Analysis.

Simmons DB, Lanning J, Cleland JC, Puwanant A, Twydell PT, Griggs RC, Tawil R, Logigian EL.

Muscle Nerve. 2018 May 12. doi: 10.1002/mus.26157. [Epub ahead of print]

PMID:
29752813
8.

Small noncoding RNAs in FSHD2 muscle cells reveal both DUX4- and SMCHD1-specific signatures.

Lim JW, Wong CJ, Yao Z, Tawil R, van der Maarel SM, Miller DG, Tapscott SJ, Filippova GN.

Hum Mol Genet. 2018 May 8. doi: 10.1093/hmg/ddy173. [Epub ahead of print]

PMID:
29741619
9.

Monosomy 18p is a risk factor for facioscapulohumeral dystrophy.

Balog J, Goossens R, Lemmers RJLF, Straasheijm KR, van der Vliet PJ, Heuvel AVD, Cambieri C, Capet N, Feasson L, Manel V, Contet J, Kriek M, Donlin-Smith CM, Ruivenkamp CAL, Heard P, Tapscott SJ, Cody JD, Tawil R, Sacconi S, van der Maarel SM.

J Med Genet. 2018 Jul;55(7):469-478. doi: 10.1136/jmedgenet-2017-105153. Epub 2018 Mar 21.

PMID:
29563141
10.

Electrical impedance myography in facioscapulohumeral muscular dystrophy: A 1-year follow-up study.

Mul K, Heatwole C, Eichinger K, Dilek N, Martens WB, Van Engelen BGM, Tawil R, Statland JM.

Muscle Nerve. 2018 Aug;58(2):213-218. doi: 10.1002/mus.26127. Epub 2018 Apr 17.

PMID:
29543984
11.

NuRD and CAF-1-mediated silencing of the D4Z4 array is modulated by DUX4-induced MBD3L proteins.

Campbell AE, Shadle SC, Jagannathan S, Lim JW, Resnick R, Tawil R, van der Maarel SM, Tapscott SJ.

Elife. 2018 Mar 13;7. pii: e31023. doi: 10.7554/eLife.31023.

12.

Facioscapulohumeral muscular dystrophy.

Tawil R.

Handb Clin Neurol. 2018;148:541-548. doi: 10.1016/B978-0-444-64076-5.00035-1. Review.

PMID:
29478599
13.

Facioscapulohumeral muscular dystrophy functional composite outcome measure.

Eichinger K, Heatwole C, Iyadurai S, King W, Baker L, Heininger S, Bartlett A, Dilek N, Martens WB, Mcdermott M, Kissel JT, Tawil R, Statland JM.

Muscle Nerve. 2018 Jan 30. doi: 10.1002/mus.26088. [Epub ahead of print]

PMID:
29381807
14.

Smchd1 haploinsufficiency exacerbates the phenotype of a transgenic FSHD1 mouse model.

de Greef JC, Krom YD, den Hamer B, Snider L, Hiramuki Y, van den Akker RFP, Breslin K, Pakusch M, Salvatori DCF, Slütter B, Tawil R, Blewitt ME, Tapscott SJ, van der Maarel SM.

Hum Mol Genet. 2018 Feb 15;27(4):716-731. doi: 10.1093/hmg/ddx437.

PMID:
29281018
15.

Deep characterization of a common D4Z4 variant identifies biallelic DUX4 expression as a modifier for disease penetrance in FSHD2.

Lemmers RJ, van der Vliet PJ, Balog J, Goeman JJ, Arindrarto W, Krom YD, Straasheijm KR, Debipersad RD, Özel G, Sowden J, Snider L, Mul K, Sacconi S, van Engelen B, Tapscott SJ, Tawil R, van der Maarel SM.

Eur J Hum Genet. 2018 Jan;26(1):94-106. doi: 10.1038/s41431-017-0015-0. Epub 2017 Nov 21.

PMID:
29162933
16.

Review of the Diagnosis and Treatment of Periodic Paralysis.

Statland JM, Fontaine B, Hanna MG, Johnson NE, Kissel JT, Sansone VA, Shieh PB, Tawil RN, Trivedi J, Cannon SC, Griggs RC.

Muscle Nerve. 2018 Apr;57(4):522-530. doi: 10.1002/mus.26009. Epub 2017 Nov 29. Review.

17.

BET bromodomain inhibitors and agonists of the beta-2 adrenergic receptor identified in screens for compounds that inhibit DUX4 expression in FSHD muscle cells.

Campbell AE, Oliva J, Yates MP, Zhong JW, Shadle SC, Snider L, Singh N, Tai S, Hiramuki Y, Tawil R, van der Maarel SM, Tapscott SJ, Sverdrup FM.

Skelet Muscle. 2017 Sep 4;7(1):16. doi: 10.1186/s13395-017-0134-x.

18.

High frequency of gastrointestinal manifestations in myotonic dystrophy type 1 and type 2.

Hilbert JE, Barohn RJ, Clemens PR, Luebbe EA, Martens WB, McDermott MP, Parkhill AL, Tawil R, Thornton CA, Moxley RT 3rd; National Registry Scientific Advisory Committee/Investigators.

Neurology. 2017 Sep 26;89(13):1348-1354. doi: 10.1212/WNL.0000000000004420. Epub 2017 Aug 30.

19.

SMCHD1 regulates a limited set of gene clusters on autosomal chromosomes.

Mason AG, Slieker RC, Balog J, Lemmers RJLF, Wong CJ, Yao Z, Lim JW, Filippova GN, Ne E, Tawil R, Heijmans BT, Tapscott SJ, van der Maarel SM.

Skelet Muscle. 2017 Jun 6;7(1):12. doi: 10.1186/s13395-017-0129-7.

20.

Developing standardized corticosteroid treatment for Duchenne muscular dystrophy.

Guglieri M, Bushby K, McDermott MP, Hart KA, Tawil R, Martens WB, Herr BE, McColl E, Wilkinson J, Kirschner J, King WM, Eagle M, Brown MW, Willis T, Hirtz D, Shieh PB, Straub V, Childs AM, Ciafaloni E, Butterfield RJ, Horrocks I, Spinty S, Flanigan KM, Kuntz NL, Baranello G, Roper H, Morrison L, Mah JK, Manzur AY, McDonald CM, Schara U, von der Hagen M, Barohn RJ, Campbell C, Darras BT, Finkel RS, Vita G, Hughes I, Mongini T, Pegoraro E, Wicklund M, Wilichowski E, Bryan Burnette W, Howard JF, McMillan HJ, Thangarajh M, Griggs RC.

Contemp Clin Trials. 2017 Jul;58:34-39. doi: 10.1016/j.cct.2017.04.008. Epub 2017 Apr 24.

PMID:
28450193
21.

Model systems of DUX4 expression recapitulate the transcriptional profile of FSHD cells.

Jagannathan S, Shadle SC, Resnick R, Snider L, Tawil RN, van der Maarel SM, Bradley RK, Tapscott SJ.

Hum Mol Genet. 2016 Oct 15;25(20):4419-4431. doi: 10.1093/hmg/ddw271.

22.

Facioscapulohumeral Muscular Dystrophy.

Statland JM, Tawil R.

Continuum (Minneap Minn). 2016 Dec;22(6, Muscle and Neuromuscular Junction Disorders):1916-1931. Review.

23.

Episodic weakness and Charcot-marie-tooth disease due to a mitochondrial MT-ATP6 mutation.

Panosyan FB, Tawil R, Herrmann DN.

Muscle Nerve. 2017 Jun;55(6):922-927. doi: 10.1002/mus.25453. Epub 2017 Feb 12.

PMID:
27783406
24.

Validity of the 6 minute walk test in facioscapulohumeral muscular dystrophy.

Eichinger K, Heatwole C, Heininger S, Stinson N, Matichak Stock C, Grosmann C, Wagner KR, Tawil R, Statland JM; FSHD Clinical Trials Research Network.

Muscle Nerve. 2017 Mar;55(3):333-337. doi: 10.1002/mus.25251. Epub 2016 Dec 5.

25.

Facioscapulohumeral Dystrophy.

Wang LH, Tawil R.

Curr Neurol Neurosci Rep. 2016 Jul;16(7):66. doi: 10.1007/s11910-016-0667-0. Review.

PMID:
27215221
26.

A cross sectional study of two independent cohorts identifies serum biomarkers for facioscapulohumeral muscular dystrophy (FSHD).

Petek LM, Rickard AM, Budech C, Poliachik SL, Shaw D, Ferguson MR, Tawil R, Friedman SD, Miller DG.

Neuromuscul Disord. 2016 Jul;26(7):405-13. doi: 10.1016/j.nmd.2016.04.012. Epub 2016 Apr 22.

27.

Clinical practice considerations in facioscapulohumeral muscular dystrophy Sydney, Australia, 21 September 2015.

Tawil R, Mah JK, Baker S, Wagner KR, Ryan MM; Sydney Workshop Participants.

Neuromuscul Disord. 2016 Jul;26(7):462-71. doi: 10.1016/j.nmd.2016.03.007. Epub 2016 Apr 25. No abstract available.

PMID:
27185458
28.

Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy.

van den Boogaard ML, Lemmers RJLF, Balog J, Wohlgemuth M, Auranen M, Mitsuhashi S, van der Vliet PJ, Straasheijm KR, van den Akker RFP, Kriek M, Laurense-Bik MEY, Raz V, van Ostaijen-Ten Dam MM, Hansson KBM, van der Kooi EL, Kiuru-Enari S, Udd B, van Tol MJD, Nishino I, Tawil R, Tapscott SJ, van Engelen BGM, van der Maarel SM.

Am J Hum Genet. 2016 May 5;98(5):1020-1029. doi: 10.1016/j.ajhg.2016.03.013.

29.

Corrigendum. Increased DUX4 expression during muscle differentiation correlates with decreased SMCHD1 protein levels at D4Z4.

Balog J, Thijssen PE, Shadle S, Straasheijm KR, van der Vliet PJ, Krom YD, van den Boogaard ML, de Jong A, Lemmers RJ, Tawil R, Tapscott SJ, van der Maarel SM.

Epigenetics. 2016;11(2):175. doi: 10.1080/15592294.2016.1161273. No abstract available.

30.

Randomized, placebo-controlled trials of dichlorphenamide in periodic paralysis.

Sansone VA, Burge J, McDermott MP, Smith PC, Herr B, Tawil R, Pandya S, Kissel J, Ciafaloni E, Shieh P, Ralph JW, Amato A, Cannon SC, Trivedi J, Barohn R, Crum B, Mitsumoto H, Pestronk A, Meola G, Conwit R, Hanna MG, Griggs RC; Muscle Study Group.

Neurology. 2016 Apr 12;86(15):1408-1416. doi: 10.1212/WNL.0000000000002416. Epub 2016 Feb 10.

31.

Electrical impedance myography in facioscapulohumeral muscular dystrophy.

Statland JM, Heatwole C, Eichinger K, Dilek N, Martens WB, Tawil R.

Muscle Nerve. 2016 Oct;54(4):696-701. doi: 10.1002/mus.25065. Epub 2016 May 25.

32.

Editorial by concerned physicians: Unintended effect of the orphan drug act on the potential cost of 3,4-diaminopyridine.

Burns TM, Smith GA, Allen JA, Amato AA, Arnold WD, Barohn R, Benatar M, Bird SJ, Bromberg M, Chahin N, Ciafaloni E, Cohen JA, Corse A, Crum BA, David WS, Dimberg E, Sousa EA, Donofrio PD, Dyck PJ, Engel AG, Ensrud ER, Ferrante M, Freimer M, Gable KL, Gibson S, Gilchrist JM, Goldstein JM, Gooch CL, Goodman BP, Gorelov D, Gospe SM Jr, Goyal NA, Guidon AC, Guptill JT, Gutmann L, Gutmann L, Gwathmey K, Harati Y, Harper CM Jr, Hehir MK, Hobson-Webb LD, Howard JF Jr, Jackson CE, Johnson N, Jones SM, Juel VC, Kaminski HJ, Karam C, Kennelly KD, Khella S, Khoury J, Kincaid JC, Kissel JT, Kolb N, Lacomis D, Ladha S, Larriviere D, Lewis RA, Li Y, Litchy WJ, Logigian E, Lou JS, MacGowen DJ, Maselli R, Massey JM, Mauermann ML, Mathews KD, Meriggioli MN, Miller RG, Moon JS, Mozaffar T, Nations SP, Nowak RJ, Ostrow LW, Pascuzzi RM, Peltier A, Ruzhansky K, Richman DP, Ross MA, Rubin DI, Russell JA, Sachs GM, Salajegheh MK, Saperstein DS, Scelsa S, Selcen D, Shaibani A, Shieh PB, Silvestri NJ, Singleton JR, Smith BE, So YT, Solorzano G, Sorenson EJ, Srinivasen J, Tavee J, Tawil R, Thaisetthawatkul P, Thornton C, Trivedi J, Vernino S, Wang AK, Webb TA, Weiss MD, Windebank AJ, Wolfe GI.

Muscle Nerve. 2016 Feb;53(2):165-8. doi: 10.1002/mus.25009. Epub 2015 Dec 21. No abstract available.

PMID:
26662952
33.

Clinical trial preparedness in facioscapulohumeral muscular dystrophy: Clinical, tissue, and imaging outcome measures 29-30 May 2015, Rochester, New York.

Tawil R, Padberg GW, Shaw DW, van der Maarel SM, Tapscott SJ; FSHD Workshop Participants.

Neuromuscul Disord. 2016 Feb;26(2):181-6. doi: 10.1016/j.nmd.2015.10.005. Epub 2015 Nov 9. No abstract available.

PMID:
26627872
34.

Increased DUX4 expression during muscle differentiation correlates with decreased SMCHD1 protein levels at D4Z4.

Balog J, Thijssen PE, Shadle S, Straasheijm KR, van der Vliet PJ, Krom YD, van den Boogaard ML, de Jong A, F Lemmers RJ, Tawil R, Tapscott SJ, van der Maarel SM.

Epigenetics. 2015;10(12):1133-42. doi: 10.1080/15592294.2015.1113798. Erratum in: Epigenetics. 2016;11(2):175.

35.

Milder phenotype in facioscapulohumeral dystrophy with 7-10 residual D4Z4 repeats.

Statland JM, Donlin-Smith CM, Tapscott SJ, Lemmers RJ, van der Maarel SM, Tawil R.

Neurology. 2015 Dec 15;85(24):2147-50. doi: 10.1212/WNL.0000000000002217. Epub 2015 Nov 11.

36.

Immunohistochemical Characterization of Facioscapulohumeral Muscular Dystrophy Muscle Biopsies.

Statland JM, Odrzywolski KJ, Shah B, Henderson D, Fricke AF, van der Maarel SM, Tapscott SJ, Tawil R.

J Neuromuscul Dis. 2015;2(3):291-299.

37.

Evidence-based guideline summary: Evaluation, diagnosis, and management of facioscapulohumeral muscular dystrophy: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine.

Tawil R, Kissel JT, Heatwole C, Pandya S, Gronseth G, Benatar M; Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology; Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine.

Neurology. 2015 Jul 28;85(4):357-64. doi: 10.1212/WNL.0000000000001783.

38.

Efficacy of prednisone for the treatment of ocular myasthenia (EPITOME): A randomized, controlled trial.

Benatar M, Mcdermott MP, Sanders DB, Wolfe GI, Barohn RJ, Nowak RJ, Hehir M, Juel V, Katzberg H, Tawil R; Muscle Study Group (MSG).

Muscle Nerve. 2016 Mar;53(3):363-9. doi: 10.1002/mus.24769. Epub 2016 Jan 27.

39.

DICER/AGO-dependent epigenetic silencing of D4Z4 repeats enhanced by exogenous siRNA suggests mechanisms and therapies for FSHD.

Lim JW, Snider L, Yao Z, Tawil R, Van Der Maarel SM, Rigo F, Bennett CF, Filippova GN, Tapscott SJ.

Hum Mol Genet. 2015 Sep 1;24(17):4817-28. doi: 10.1093/hmg/ddv206. Epub 2015 Jun 3.

40.

Hemizygosity for SMCHD1 in Facioscapulohumeral Muscular Dystrophy Type 2: Consequences for 18p Deletion Syndrome.

Lemmers RJ, van den Boogaard ML, van der Vliet PJ, Donlin-Smith CM, Nations SP, Ruivenkamp CA, Heard P, Bakker B, Tapscott S, Cody JD, Tawil R, van der Maarel SM.

Hum Mutat. 2015 Jul;36(7):679-83. doi: 10.1002/humu.22792. Epub 2015 May 20.

41.

Double SMCHD1 variants in FSHD2: the synergistic effect of two SMCHD1 variants on D4Z4 hypomethylation and disease penetrance in FSHD2.

van den Boogaard ML, Lemmers RJ, Camaño P, van der Vliet PJ, Voermans N, van Engelen BG, Lopez de Munain A, Tapscott SJ, van der Stoep N, Tawil R, van der Maarel SM.

Eur J Hum Genet. 2016 Jan;24(1):78-85. doi: 10.1038/ejhg.2015.55. Epub 2015 Mar 18.

42.

Multiplex Screen of Serum Biomarkers in Facioscapulohumeral Muscular Dystrophy.

Statland J, Donlin-Smith CM, Tapscott SJ, van der Maarel S, Tawil R.

J Neuromuscul Dis. 2014;1(2):181-190.

43.

Muscle pathology grade for facioscapulohumeral muscular dystrophy biopsies.

Statland JM, Shah B, Henderson D, Van Der Maarel S, Tapscott SJ, Tawil R.

Muscle Nerve. 2015 Oct;52(4):521-6. doi: 10.1002/mus.24621. Epub 2015 Jun 18.

44.

A feedback loop between nonsense-mediated decay and the retrogene DUX4 in facioscapulohumeral muscular dystrophy.

Feng Q, Snider L, Jagannathan S, Tawil R, van der Maarel SM, Tapscott SJ, Bradley RK.

Elife. 2015 Jan 7;4. doi: 10.7554/eLife.04996.

45.

Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2.

Lemmers RJ, Goeman JJ, van der Vliet PJ, van Nieuwenhuizen MP, Balog J, Vos-Versteeg M, Camano P, Ramos Arroyo MA, Jerico I, Rogers MT, Miller DG, Upadhyaya M, Verschuuren JJ, Lopez de Munain Arregui A, van Engelen BG, Padberg GW, Sacconi S, Tawil R, Tapscott SJ, Bakker B, van der Maarel SM.

Hum Mol Genet. 2015 Feb 1;24(3):659-69. doi: 10.1093/hmg/ddu486. Epub 2014 Sep 25.

46.

Facioscapulohumeral muscular dystrophy.

Statland J, Tawil R.

Neurol Clin. 2014 Aug;32(3):721-8, ix. doi: 10.1016/j.ncl.2014.04.003. Epub 2014 May 15. Review.

47.

Facioscapulohumeral dystrophy: the path to consensus on pathophysiology.

Tawil R, van der Maarel SM, Tapscott SJ.

Skelet Muscle. 2014 Jun 10;4:12. doi: 10.1186/2044-5040-4-12. eCollection 2014. Review.

48.

DUX4-induced gene expression is the major molecular signature in FSHD skeletal muscle.

Yao Z, Snider L, Balog J, Lemmers RJ, Van Der Maarel SM, Tawil R, Tapscott SJ.

Hum Mol Genet. 2014 Oct 15;23(20):5342-52. doi: 10.1093/hmg/ddu251. Epub 2014 May 26.

49.

Genetic and epigenetic characteristics of FSHD-associated 4q and 10q D4Z4 that are distinct from non-4q/10q D4Z4 homologs.

Zeng W, Chen YY, Newkirk DA, Wu B, Balog J, Kong X, Ball AR Jr, Zanotti S, Tawil R, Hashimoto N, Mortazavi A, van der Maarel SM, Yokomori K.

Hum Mutat. 2014 Aug;35(8):998-1010. doi: 10.1002/humu.22593. Epub 2014 Jun 24.

50.

Restrictive lung involvement in facioscapulohumeral muscular dystrophy.

Scully MA, Eichinger KJ, Donlin-Smith CM, Tawil R, Statland JM.

Muscle Nerve. 2014 Nov;50(5):739-43. doi: 10.1002/mus.24218. Epub 2014 Sep 29.

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