FSHD publications
by Manuel Cabral

2015: FSHD publications in progress

  1. A new double-trouble phenotype: FSHD ameliorates hereditary spastic paraparesis due to spastin mutation. Scarlato M, ... Previtali SC. J Neurol. 2015 Feb;
  2. Clinical trial preparedness in FSHD: Clinical, tissue, and imaging outcome measures 29-30 May 2015 Tawil R...Tapscott SJ; FSHD Workshop Neuromuscul Disord. 2015 Nov 9.
  3. Evaluation of muscle oxygenation by near infrared spectroscopy in patients with facioscapulohumeral dystrophy. Olivier N, ... Tiffreau V. Neuromuscul Disord. 2015 Nov 11.
  4. Increased DUX4 expression during muscle differentiation correlates with decreased SMCHD1 protein levels at D4Z4. Balog J, ..., Van Der Maarel SM. Epigenetics. 2015 Nov
  5. Correlation between low FAT1 expression and early affected muscle in facioscapulohumeral muscular dystrophy. Mariot V, ... Dumonceaux J. Ann Neurol. 2015 Sep
  6. Milder phenotype in facioscapulohumeral dystrophy with 7-10 residual D4Z4 repeats. Statland JM, ..., Tawil R. Neurology. 2015 Nov 11
  7. Literature review of the importance of retinal examination in two genetic neuromuscular diseases (DM1 and FSHD). Potential clinical applications. Brignol TN. J Fr Ophtalmol. 2015 Nov 4.
  8. CRISPR/dCas9-mediated transcriptional inhibition ameliorates the epigenetic dysregulation at D4Z4 and represses DUX4-fl in FSHD Himeda CL, ... Jones PL.
  9. Isometric skeletal muscle force measurement in primary myopathies. Ginz HF, Iaizzo PA, Schweikert K, Durfee WK. Muscle Nerve. 2015 Oct 27
  10. Aerobic exercise in muscular dystrophy: gain without pain. Ensrud E, Kissel JT. Neurology. 2015 Aug 4
  11. Redundant Information in Text and Incorrect Reference. Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family.
  12. Remotely acting SMCHD1 gene regulatory elements: in silico prediction and identification of potential regulatory variants in patients with FSHD. Mayes MB, ...Chuzhanova N.
  13. Molecular combing compared to Southern blot for measuring D4Z4 contractions in FSHD. Vasale J,... , Higgins J.
  14. Independent mechanisms target SMCHD1 to H3K9me3-modified chromatin and the inactive X chromosome. Brideau NJ, ..., Brockdorff N.
  15. Clinical functional capacity testing in patients with facioscapulohumeral muscular dystrophy: construct validity and inter-rater reliability of anti-gravity tests. Rijken NH,..., Geurts AC.
  16. Facioscapulohumeral muscular dystrophy. Sacconi S,... Desnuelle C.
  17. SORBS2 transcription is activated by telomere position effect-over long distance upon telomere shortening in muscle cells from patients with FSHD. Robin JD...Shay JW.
  18. Genetic and epigenetic contributors to FSHD. Daxinger L, Tapscott SJ, van der Maarel SM.
  19. Immunohistochemical Characterization of FSHD Muscle Biopsies. Statland JM, ..., Tawil R.
  20. Low D4Z4 copy number and gender difference in Korean patients with FSHD type 1. Park HJ, .., Choi YC.
  21. Facioscapulohumeral distrophy and physiotherapy: a literary review. Corrado B, Ciardi G. J Phys Ther Sci. 2015 Jul
  22. Correction of the FSHD Myoblast Differentiation Defect by Fusion With Healthy Myoblasts. Dib C, ..., Vassetzky YS.
  23. Diagnosis and treatment of FSHD: 2015 guidelines. Karceski S. ..., T
  24. Evidence-based guideline summary: Evaluation, diagnosis, and management of facioscapulohumeral muscular dystrophy. Tawil R, ..., Benatar M. Neurology. 2015 Jul 28
  25. The Role of D4Z4-Encoded Proteins in the Osteogenic Differentiation of Mesenchymal Stromal Cells Isolated from Bone Marrow. De la Kethulle de Ryhove L,..., Belayew A.
  26. Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2. Lemmers RJ, ..., van der Maarel SM.
  27. ZNF555 protein binds to transcriptional activator site of 4qA allele and ANT1: potential implication in Facioscapulohumeral dystrophy. Kim E, ..., Pirozhkova I.
  28. Charcot-Marie-Tooth disease type 2C and scapuloperoneal muscular atrophy overlap syndrome in a patient with the R232C TRPV4 mutation. Koutsis G, ..., Panas M.
  29. Muscle Quantitative MR Imaging and Clustering Analysis in Patients with Facioscapulohumeral Muscular Dystrophy Type 1. Lareau-Trudel E, ..., Salort-Campana E.
    .... in progress
  30. Aerobic training and postexercise protein in facioscapulohumeral muscular dystrophy: RCT study. Andersen G, Prahm KP, Dahlqvist JR, Citirak G, Vissing J. Neurology. 2015 Jul 8
  31. Facioscapulohumeral muscular dystrophy as a genetic cause of pectus excavatum. Mul K, Padberg GW, Voermans NC. Eur J Med Genet. 2015 Apr
  32. Dynamic stability during level walking and obstacle crossing in persons with facioscapulohumeral muscular dystrophy. Rijken NH, van Engelen BG, Geurts AC, Weerdesteyn V. Gait Posture. 2015 Jun 22
  33. Muscle MRI findings in facioscapulohumeral muscular dystrophy. Gerevini S, Scarlato M, Maggi L, Cava M, Caliendo G, Pasanisi B, Falini A, Previtali SC, Morandi L. Eur Radiol. 2015 Jun 27
  34. Loss of epigenetic silencing of the DUX4 transcription factor in Facioscapulohumeral Muscular Dystrophy. Hewitt JE. Hum Mol Genet. 2015 Jun 25
  35. New Insights into Genotype-phenotype Correlations in Chinese Facioscapulohumeral Muscular Dystrophy: A Retrospective Analysis of 178 Patients. Lin F, Wang ZQ, Lin MT, Murong SX, Wang N. Chin Med J (Engl). 2015 5th Jul
  36. Bringing smiles to faces: Evidence-based guidelines for facioscapulohumeral dystrophy. Iyadurai S, Kissel JT. Muscle Nerve. 2015 Jun 25
  37. Genome-wide binding and mechanistic analyses of Smchd1-mediated epigenetic regulation. Chen K, Hu J, Moore DL, Liu R, Kessans SA, Breslin K, Lucet IS, Keniry A, Leong HS, Parish CL, Hilton DJ, Lemmers RJ, van der Maarel SM, Czabotar PE, Dobson RC, Ritchie ME, Kay GF, Murphy JM, Blewitt ME. Proc Natl Acad Sci U S A. 2015 Jun 19
  38. A pedigree with facioscapulohumerai muscular dystrophy. Zhong J, Yang T, Xu Y. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015 Apr;32
  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 Jun 3
  40. Respiratory muscle dysfunction in facioscapulohumeral muscular dystrophy. Santos DB, Boussaid G, Stojkovic T, Orlikowski D, Letilly N, Behin A, Butel S, Lofaso F, Prigent H. Neuromuscul Disord. 2015 Apr 30
  41. Correlation between low FAT1 expression and early affected muscle in FSHD. Mariot V, Roche S, Hourdé C, Portilho D, Sacconi S, Puppo F, Duguez S, Rameau P, Caruso N, Delezoide AL, Desnuelle C, Bessičres B, Collardeau S, Feasson L, Maisonobe T, Magdinier F, Helmbacher F, Butler-Browne G, Mouly V, Dumonceaux J. Ann Neurol. 2015 May 28
  42. Culture Conditions Affect Expression of DUX4 in FSHD Myoblasts. Pandey SN, Khawaja H, Chen YW. Molecules. 2015 May 8
  43. Facioscapulohumeral muscular dystrophy: Report of seven patients. Cea G, Jiménez D. Rev Med Chil. 2015 Mar
  44. Computer-based assessment for facioscapulohumeral dystrophy diagnosis. Chambers O, Milenkovic J, Pražnikar A, Tasic JF. Comput Methods Programs Biomed. 2015 Apr 4
  45. Individual epigenetic status of the pathogenic D4Z4 macrosatellite correlates with disease in facioscapulohumeral muscular dystrophy. Jones TI, King OD, Himeda CL, Homma S, Chen JC, Beermann ML, Yan C, Emerson CP Jr, Miller JB, Wagner KR, Jones PL. Clin Epigenetics. 2015 Mar 29
  46. Birdshot chorioretinopathy in a male patient with facioscapulohumeral muscular dystrophy. Papavasileiou E, Lobo AM. J Ophthalmic Inflamm Infect. 2015 Mar 12
  47. Clinical Muscle Testing Compared with Whole-Body Magnetic Resonance Imaging in Facio-scapulo-humeral Muscular Dystrophy. Regula JU, Jestaedt L, Jende F, Bartsch A, Meinck HM, Weber MA. Clin Neuroradiol. 2015 Apr 10
  48. 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 Mar 2
  49. Emerging preclinical animal models for FSHD. Lek A, Rahimov F, Jones PL, Kunkel LM. Trends Mol Med. 2015 Mar 19
  50. Double SMCHD1 variants in FSHD2: the synergistic effect of two SMCHD1 variants on D4Z4 hypomethylation and disease penetrance in FSHD2. van den Boogaard ML, Jfl Lemmers R, Camańo P, van der Vliet PJ, Voermans N, van Engelen BG, de Munain AL, Tapscott SJ, van der Stoep N, Tawil R, van der Maarel SM. Eur J Hum Genet. 2015 Mar 18
  51. Reachable workspace reflects dynamometer-measured upper extremity strength in FSHD. Han JJ, de Bie E, Nicorici A, Abresch RT, Bajcsy R, Kurillo G. Muscle Nerve. 2015 Mar 18
  52. Is pushing the wall, the best known method for scapular winging, really the best? A Comparative analysis of various methods in neuromuscular disorders. Khadilkar SV, Chaudhari CR, Soni G, Bhutada A. J Neurol Sci. 2015 Mar 2
  53. Both aerobic exercise and cognitive-behavioral therapy reduce fatigue in FSHD: an RCT. Voet VB, Bleijenberg G, Hendriks JC, de Groot IJ, Padberg GW, van Engelen BG, Geurts AC. Ned Tijdschr Geneeskd. 2015
  54. Expression of FSHD-related DUX4-FL alters proteostasis and induces TDP-43 aggregation. Homma S, Beermann ML, Boyce FM, Miller JB. Ann Clin Transl Neurol. 2015 Feb;2
  55. Aberrant Splicing in Transgenes Containing Introns, Exons, and V5 Epitopes: Lessons from Developing an FSHD Mouse Model Expressing a D4Z4 Repeat with Flanking Genomic Sequences. Ansseau E, Domire JS, Wallace LM, Eidahl JO, Guckes SM, Giesige CR, Pyne NK, Belayew A, Harper SQ. PLoS One. 2015 Mar 5
  56. Facioscapulohumeral muscular dystrophy as a genetic cause of pectus excavatum. Mul K, Padberg GW, Voermans NC. Eur J Med Genet. 2015 Feb 25
  57. 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 Feb 23