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  1. Heloise M Hoffmann, Victor Malo-Juvera, Jeffrey M Statland. Self-reported reduced sleep quality and excessive daytime sleepiness in facioscapulohumeral muscular dystrophy 2022 Oct. PMID: 35893768 PMCID: PMC9489670 (available on 2023-10-01)
  2. Samantha LoRusso, Katy Eichinger, Michaela Walker, Leann Lewis, Michaela Walker, James Albert, Michele Langer, Rabi Tawil, Jeffrey M Statland, Kim S Kimminau. A Roadmap to Patient Engagement: Facioscapulohumeral Muscular Dystrophy and the ReSolve Clinical Trial 2021 Sep 20:awab326. doi: 10.1093/brain/awab326. Online ahead of print.PMID: 34542603
  3. Chao-Jen Wong, Leo Wang, V Michael Holers, Ashley Frazer-Abel, Silvère M van der Maarel, Rabi Tawil, Jeffrey M Statland, Stephen J Tapscott. Elevated plasma complement components in facioscapulohumeral dystrophy. 2022 Jun 4;31(11):1821-1829. doi: 10.1093/hmg/ddab364.
  4. Natalie K Katz, John Hogan, Ryan Delbango, Colin Cernik, Rabi Tawil, Jeffrey M Statland. Reply: Wheelchair use in genetically-confirmed FSHD1 from a large cohort study in Chinese population. 2022 Mar 18;awac098. doi: 10.1093/brain/awac098. Online ahead of print.
  5. Jeffrey M Statland, Craig Campbell, Urvi Desai, Chafic Karam, Jordi Díaz-Manera, Jeffrey T Guptill, Lawrence Korngut, Angela Genge, Rabi N Tawil, Lauren Elman, Nanette C Joyce, Kathryn R Wagner, Georgios Manousakis, Anthony A Amato, Russell J Butterfield, Perry B Shieh, Matthew Wicklund, Josep Gamez, Cynthia Bodkin, Alan Pestronk, Conrad C Weihl, Juan J Vilchez-Padilla, Nicholas E Johnson, Katherine D Mathews, Barry Miller, Ashley Leneus, Marcie Fowler, Marc van de Rijn, Kenneth M Attie. Randomized phase 2 study of ACE-083, a muscle-promoting agent, in facioscapulohumeral muscular dystrophy. 2022 Apr 15.
     doi: 10.1002/mus.27558. Online ahead of print.
  6. Predictors of functional outcomes in patients with facioscapulohumeral muscular dystrophy.
    Katz NK, Hogan J, Delbango R, Cernik C, Tawil R, Statland JM.Brain. 2021 Sep 20:awab326. doi: 10.1093/brain/awab326. Online ahead of print.PMID: 34542603
  7. Grow EJ, Weaver BD, Smith CM, Guo J, Stein P, Shadle SC, Hendrickson PG, Johnson NE, Butterfield RJ, Menafra R, Kloet SL, van der Maarel SM, Williams CJ, Cairns BR. p53 convergently activates Dux/DUX4 in embryonic stem cells and in facioscapulohumeral muscular dystrophy cell models. Nat Genet. 2021 Jul 15. doi: 10.1038/s41588-021-00893-0. Online ahead of print.PMID: 34267371.
  8. Mul K, Hamadeh T, Horlings CGC, Tawil R, Statland JM, Sacconi S, Corbett AJ, Voermans NC, Faber CG, van Engelen BGM, Merkies. The facioscapulohumeral muscular dystrophy Rasch-built overall disability scale (FSHD-RODS). ISJ.Eur J Neurol. 2021 Jul;28(7):2339-2348. doi: 10.1111/ene.14863. Epub 2021 May 2.PMID: 33838063.
  9. Wang LH, Shaw DWW, Faino A, Budech CB, Lewis LM, Statland J, Eichinger K, Tapscott SJ, Tawil RN, Friedman SD. Longitudinal study of MRI and functional outcome measures in facioscapulohumeral muscular dystrophy. BMC Musculoskelet Disord. 2021 Mar 10;22(1):262. doi: 10.1186/s12891-021-04134-7. PMID: 33691664; PMCID: PMC7948347.
  10. Wang LH, Tawil R. Current Therapeutic Approaches in FSHD. J Neuromuscul Dis. 2020 Nov 10. doi: 10.3233/JND-200554. Epub ahead of print. PMID: 33579868.
  11. Chau J, Kong X, Viet Nguyen N, Williams K, Ball M, Tawil R, Kiyono T, Mortazavi A, Yokomori K. Relationship of DUX4 and target gene expression in FSHD myocytes. Hum Mutat. 2021 Jan 27. doi: 10.1002/humu.24171. Epub ahead of print. PMID: 33502067.
  12. Lemmers RJLF, van der Vliet PJ, Blatnik A, Balog J, Zidar J, Henderson D, Goselink R, Tapscott SJ, Voermans NC, Tawil R, Padberg GWAM, van Engelen BG, van der Maarel SM. Chromosome 10q-linked FSHD identifies DUX4 as principal disease gene. J Med Genet. 2021 Jan 12:jmedgenet-2020-107041. doi: 10.1136/jmedgenet-2020-107041. Epub ahead of print. PMID: 33436523.
  13. Wang LH, Johnstone LM, Bindschadler M, Tapscott SJ, Friedman SD. Adapting MRI as a clinical outcome measure for a facioscapulohumeral muscular dystrophy trial of prednisone and tacrolimus: case report. BMC Musculoskelet Disord. 2021 Jan 9;22(1):56. doi: 10.1186/s12891-020-03910-1. PMID: 33422031; PMCID: PMC7797109.
  14. Mul K, Horlings CGC, Faber CG, van Engelen BGM, Merkies ISJ. Rasch analysis to evaluate the motor function measure for patients with facioscapulohumeral muscular dystrophy. Int J Rehabil Res. 2021 Mar 1;44(1):38-44. doi: 10.1097/MRR.0000000000000444. PMID: 33165002; PMCID: PMC7884240.
  15. Loonen TGJ, Horlings CGC, Vincenten SCC, Beurskens CHG, Knuijt S, Padberg GWAM, Statland JM, Voermans NC, Maal TJJ, van Engelen BGM, Mul K. Characterizing the face in facioscapulohumeral muscular dystrophy. J Neurol. 2021 Apr;268(4):1342-1350. doi: 10.1007/s00415-020-10281-z. Epub 2020 Oct 28. PMID: 33113021.
  16. Ikenaga C, Findlay AR, Seiffert M, Peck A, Peck N, Johnson NE, Statland JM, Weihl CC. Phenotypic diversity in an international Cure VCP Disease registry. Orphanet J Rare Dis. 2020 Sep 29;15(1):267. doi: 10.1186/s13023-020-01551-0. PMID: 32993728; PMCID: PMC7523394.
  17. Rojas LA, Valentine E, Accorsi A, Maglio J, Shen N, Robertson A, Kazmirski S, Rahl P, Tawil R, Cadavid D, Thompson LA, Ronco L, Chang AN, Cacace AM, Wallace O. p38α Regulates Expression of DUX4 in a Model of Facioscapulohumeral Muscular Dystrophy. J Pharmacol Exp Ther. 2020 Sep;374(3):489-498. doi: 10.1124/jpet.119.264689. Epub 2020 Jun 23. PMID: 32576599.
  18. Banerji CRS, Henderson D, Tawil RN, Zammit PS. Skeletal muscle regeneration in Facioscapulohumeral muscular dystrophy is correlated with pathological severity. Hum Mol Genet. 2020 Aug 3:ddaa164. doi: 10.1093/hmg/ddaa164. Epub ahead of print. PMID: 32744322.
  19. 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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  20. 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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  21. 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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  22. 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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  23. 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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  24. 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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  25. 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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  26. 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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  27. 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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  28. 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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  29. 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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  30. 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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  31. 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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  32. 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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  33. 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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  34. 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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  35. 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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  36. 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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  37. 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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  38. 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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  39. 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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  40. Self-reported reduced sleep quality and excessive daytime sleepiness in facioscapulohumeral muscular dystrophy. Heloise M Hoffmann, Victor Malo-Juvera, Jeffrey M Statland. 2022 Jul 27. doi: 10.1002/mus.27688. PMID: 35893768
  41. Quantitative Muscle Analysis in FSHD Using Whole-Body Fat-Referenced MRI: Composite Scores for Longitudinal and Cross-Sectional Analysis. Michelle L Mellion, Per Widholm, Markus Karlsson, André Ahlgren, Rabi Tawil, Kathryn R Wagner, Jeffrey M Statland, Leo Wang, Perry B Shieh, Baziel G M van Engelen, Joost Kools, Lucienne Ronco, Adefowope Odueyungbo, John Jiang, Jay J Han, Maya Hatch, Jeanette Towles, Olof Dahlqvist Leinhard, Diego Cadavid. 2022 Jun 24;10.1212/WNL.0000000000200757. doi: 10.1212/WNL.0000000000200757. Online ahead of print.
  42. Quantitative muscle analysis in facioscapulohumeral muscular dystrophy using whole-body fat-referenced MRI: Protocol development, multicenter feasibility, and repeatability. Per Widholm, André Ahlgren, Markus Karlsson, Thobias Romu, Rabi Tawil, Kathryn R Wagner, Jeffrey M Statland, Leo H Wang, Perry B Shieh, Baziel G M van Engelen, Diego Cadavid, Lucienne Ronco, Adefowope O Odueyungbo, John G Jiang, Michelle L Mellion, Olof Dahlqvist Leinhard.  2022 Aug;66(2):183-192.
     doi: 10.1002/mus.27638. Epub 2022 Jun 11.
FSHD Clinical Trial Research Network

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Michaela Walker
Project Manager
913-945-9920
mwalker20@kumc.edu