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Publications

  1. Single-nucleus RNA-seq Identifies Divergent Populations of FSHD2 Myotube Nuclei. Jiang S, Williams K, Kong X, Zeng W, Nguyen NV, Ma X, Tawil R, Yokomori K, Mortazavi A. PLoS Genet. 2020 May 4;16(5):e1008754. doi: 10.1371/journal.pgen.1008754. eCollection 2020 May. PMID: 32365093 [Pubmed- in process]
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  2. It's Not All About Muscle: Fibroadipogenic Progenitors Contribute to Facioscapulohumeral Muscular Dystrophy. Serra C, Wagner KR. J Clin Invest. 2020 May 1;130(5):2186-2188. doi: 10.1172/JCI136133. PMID: 32250345 [Pubmed- in process]
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  3. Magnetic Resonance Imaging Correlates With Electrical Impedance Myography in Facioscapulohumeral Muscular Dystrophy. Hamel J, Lee P, Glenn MD, Burka T, Choi IY, Friedman SD, Shaw DWW, McCalley A, Herbelin L, Dimachkie MM, Lemmers R, van der Maarel SM, Barohn RJ, Tawil R, Statland JM. Muscle Nerve. 2020 May;61(5):644-649. doi: 10.1002/mus.26792. Epub 2020 Jan 22. PMID: 31884698 [Pubmed- in process]
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  4. Bilateral Scapulothoracic Arthrodesis for Facioscapulohumeral Muscular Dystrophy: Function, Fusion, and Respiratory Consequences. Boileau P, Pison A, Wilson A, van der Meijden O, Sacconi S, Trojani C, Gauci MO. J Shoulder Elbow Surg. 2020 May;29(5):931-940. doi: 10.1016/j.jse.2019.10.006. Epub 2020 Jan 22. PMID: 31982337 [Pubmed- in process]
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  5. Longitudinal Measures of RNA Expression and Disease Activity in FSHD Muscle Biopsies. Wong CJ, Wang LH, Friedman SD, Shaw D, Campbell AE, Budech CB, Lewis LM, Lemmers RJFL, Statland JM, van der Maarel SM, Tawil RN, Tapscott SJ. Hum Mol Genet. 2020 Apr 15;29(6):1030-1043. doi: 10.1093/hmg/ddaa031. PMID: 32083293 [Pubmed- in process]
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  6. Muscle Ultrasound Is a Responsive Biomarker in Facioscapulohumeral Dystrophy. Goselink RJM, Schreuder THA, Mul K, Voermans NC, Erasmus CE, van Engelen BGM, van Alfen N. Neurology. 2020 Apr 7;94(14):e1488-e1494. doi: 10.1212/WNL.0000000000009211. Epub 2020 Mar 4. PMID: 32132178
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  7. Applying Genome-Wide CRISPR-Cas9 Screens for Therapeutic Discovery in Facioscapulohumeral Muscular Dystrophy. Lek A, Zhang Y, Woodman KG, Huang S, DeSimone AM, Cohen J, Ho V, Conner J, Mead L, Kodani A, Pakula A, Sanjana N, King OD, Jones PL, Wagner KR, Lek M, Kunkel LM. Sci Transl Med. 2020 Mar 25;12(536):eaay0271. doi: 10.1126/scitranslmed.aay0271. PMID: 32213627 [Pubmed- in process]
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  8. Type 1 FSHD With 6-10 Repeated Units: Factors Underlying Severity in Index Cases and Disease Penetrance in Their Relatives Attention. Salort-Campana E, Fatehi F, Beloribi-Djefaflia S, Roche S, Nguyen K, Bernard R, Cintas P, Solé G, Bouhour F, Ollagnon E, Sacconi S, Echaniz-Laguna A, Kuntzer T, Levy N, Magdinier F, Attarian S. Int J Mol Sci. 2020 Mar 23;21(6):2221. doi: 10.3390/ijms21062221. PMID: 32210100 [Pubmed- in process]
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  9. Clinical and Genetic Features of Somatic Mosaicism in Facioscapulohumeral Dystrophy. Qiu L, Ye Z, Lin L, Wang L, Lin X, He J, Lin F, Xu G, Cai N, Jin M, Chen H, Lin M, Wang N, Wang Z. J Med Genet. 2020 Mar 13;jmedgenet-2019-106638. doi: 10.1136/jmedgenet-2019-106638. PMID: 32170003 [Pubmed- in process]
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  10. Facioscapulohumeral Muscular Dystrophy. Preston M, Tawil R, Wang L, Adam MP, Ardinger HH, Pagon RA, Wallace, SE, Bean LJ, Stephens K, Amemiya A. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2020. 1999 Mar 8 [updated 2020 Feb 6]. PMID: 20301616 [Pubmed- in process]
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  11. Identification of the Hyaluronic Acid Pathway as a Therapeutic Target for Facioscapulohumeral Muscular Dystrophy. DeSimone AM, Leszyk J, Wagner K, Emerson CP Jr. Sci Adv. 2019 Dec 11;5(12):eaaw7099. doi: 10.1126/sciadv.aaw7099. eCollection 2019 Dec. PMID: 31844661 [Pubmed- in person]
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  12. Facioscapulohumeral Muscular Dystrophies. Wagner K. Continuum (Minneap Minn). 2019 Dec;25(6):1662-1681. doi: 10.1212/CON.0000000000000801. PMID: 31794465 [Pubmed- in process]
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  13. Intronic SMCHD1 Variants in FSHD: Testing the Potential for CRISPR-Cas9 Genome Editing. Goossens R, van den Boogaard ML, Lemmers RJLF, Balog J, van der Vliet PJ, Willemsen IM, Schouten J, Maggio I, van der Stoep N, Hoeben RC, Tapscott SJ, Geijsen N, Gonçalves MAFV, Sacconi S, Tawil R, van der Maarel SM. J Med Genet. 2019 Dec;56(12):828-837. doi: 10.1136/jmedgenet-2019-106402. Epub 2019 Nov 1. PMID: 31676591 [Pubmed- in process]
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  14. A Pilot Study of the Responsiveness of Wireless Motion Analysis in Facioscapulohumeral Muscular Dystrophy. Statland JM, Karanevich A, Bruetch A, Huisinga J. Muscle Nerve. 2019 Nov;60(5):590-594. doi: 10.1002/mus.26681. Epub 2019 Sep 9. PMID: 31443130 [Pubmed- in process]
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  15. SMCHD1 Mutation Spectrum for Facioscapulohumeral Muscular Dystrophy Type 2 (FSHD2) and Bosma Arhinia Microphthalmia Syndrome (BAMS) Reveals Disease-Specific Localisation of Variants in the ATPase Domain. Lemmers RJLF, van der Stoep N, Vliet PJV, Moore SA, San Leon Granado D, Johnson K, Topf A, Straub V, Evangelista T, Mozaffar T, Kimonis V, Shaw ND, Selvatici R, Ferlini A, Voermans N, van Engelen B, Sacconi S, Tawil R, Lamers M, van der Maarel SM. J Med Genet. 2019 Oct;56(10):693-700. doi: 10.1136/jmedgenet-2019-106168. Epub 2019 Jun 26. PMID: 31243061 [Pubmed- in process]
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  16. Patient-Reported Symptoms in Facioscapulohumeral Muscular Dystrophy (PRISM-FSHD). Hamel J, Johnson N, Tawil R, Martens WB, Dilek N, McDermott MP, Heatwole C. Neurology. 2019 Sep 17;93(12):e1180-e1192. doi: 10.1212/WNL.0000000000008123. Epub 2019 Aug 13. PMID: 31409737 [Pubmed- in process]
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  17. Clinical Trial Readiness to Solve Barriers to Drug Development in FSHD (ReSolve): Protocol of a Large, International, Multi-Center Prospective Study. LoRusso S, Johnson NE, McDermott MP, Eichinger K, Butterfield RJ, Carraro E, Higgs K, Lewis L, Mul K, Sacconi S, Sansone VA, Shieh P, van Engelen B, Wagner K, Wang L, Statland JM, Tawil R; ReSolve Investigators and the FSHD CTRN18. BMC Neurol. 2019 Sep 10;19(1):224. doi: 10.1186/s12883-019-1452-x. PMID: 31506080 [Pubmed- in process]
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  18. Deciphering the Complexity of the 4q and 10q Subtelomeres by Molecular Combing in Healthy Individuals and Patients With Facioscapulohumeral Dystrophy. Nguyen K, Broucqsault N, Chaix C, Roche S, Robin JD, Vovan C, Gerard L, Mégarbané A, Urtizberea JA, Bellance R, Barnérias C, David A, Eymard B, Fradin M, Manel V, Sacconi S, Tiffreau V, Zagnoli F, Cuisset JM, Salort-Campana E, Attarian S, Bernard R, Lévy N, Magdinier F. J Med Genet. 2019 Sep;56(9):590-601. doi: 10.1136/jmedgenet-2018-105949. Epub 2019 Apr 22. PMID: 31010831 [Pubmed- in process]
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  19. Clinically Advanced p38 Inhibitors Suppress DUX4 Expression in Cellular and Animal Models of Facioscapulohumeral Muscular Dystrophy. Oliva J, Galasinski S, Richey A, Campbell AE, Meyers MJ, Modi N, Zhong JW, Tawil R, Tapscott SJ, Sverdrup FM. J Pharmacol Exp Ther. 2019 Aug;370(2):219-230. doi: 10.1124/jpet.119.259663. Epub 2019 Jun 12. PMID: 31189728 [Pubmed- in process]
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  20. FSHD1 or FSHD2: That Is the Question: The Answer: It's All Just FSHD. Johnson NE, Statland JM. Neurology. 2019 May 7;92(19):881-882. doi: 10.1212/WNL.0000000000007446. Epub 2019 Apr 12. PMID: 30979855 [Pubmed- in process]
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  21. Dynamic Transcriptomic Analysis Reveals Suppression of PGC1α/ERRα Drives Perturbed Myogenesis in Facioscapulohumeral Muscular Dystrophy. Banerji CRS, Panamarova M, Pruller J, Figeac N, Hebaishi H, Fidanis E, Saxena A, Contet J, Sacconi S, Severini S, Zammit PS. Hum Mol Genet. 2019 Apr 15;28(8):1244-1259. doi: 10.1093/hmg/ddy405. PMID: 30462217 [Pubmed- in process]
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Last modified: Jul 01, 2020
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Virtual Rock & Roll to Cure FSHD
September 12, 2020
virtual

ReSolve Year 4 Investigator Meeting
October 23, 2020

FSHD Society Sequester Camp
Every Thursday, 12 p.m. CST/1 p.m. EST
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Kiley Higgs
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913-945-9922
ksims2@kumc.edu

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