FSHD publications
Manuel Cabral

2017: FSHD publications


    ##### T3 2017 ####
  1. Increased FRG1 expression reduces in vitro cell migration, invasion and angiogenesis, ex vivo supported by reduced expression in tumors. Tiwari A, Dixit M. Biosci Rep. 2017 Sep 25
  2. The DUX4 homeodomains mediate inhibition of myogenesis and are functionally exchangeable with the Pax7 homeodomain. Bosnakovski D, Kyba M. - J Cell Sci. 2017 Sep 21.
  3. Muscle pathology from stochastic low level DUX4 expression in an FSHD mouse model. Bosnakovski D, Kyba M. Nat Commun. 2017 Sep 15
  4. Facioscapulohumeral Muscular Dystrophy. DeSimone AM, Emerson CP Jr.Compr Physiol. 2017 Sep 12
  5. An Instrumented Timed Up and Go in Fshd. Huisinga J, Statland J. Muscle Nerve. 2017 Sep 6
  6. 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, Sverdrup. Skelet Muscle. 2017 Sep
  7. SMCHD1 regulates a limited set of gene clusters on autosomal chromosomes. Mason AG, van der Maarel SM. Skelet Muscle. 2017 Jun 6;
  8. Are Antioxidants a Potential Therapy for FSHD ? A Review of the Literature. Denny AP, Heather AK. Oxid Med Cell Longev. Epub 2017 Jun 12
  9. Surgical correction of hyperlordosis in FSHD: A case report.Tan H,, Shen J.BMC Surg. 2017 Jul 17
  10. Severe Glomerular Endothelial Injury Associated with a Short D4Z4 Repeat on Chromosome 4q35. Hibino S, Uemura O. Intern Med. 2017; Epub 2017 Jul 15.
  11. p53-independent DUX4 pathology. Bosnakovski D, Kyba M. Dis Model Mech. 2017 Jul 28
  12. Long-term follow-up of MRI changes in thigh muscles of patients with FSHD: A quantitative study. Fatehi F, Attarian S. PLoS One. 2017 Aug 25
  13. Ultrasound Imaging of Muscle Contraction of the Tibialis Anterior in Patients with FSHD. Gijsbertse K, de Korte C. Ultrasound Med Biol. 2017 Nov
  14. ##### T2 2017 ####
  15. Respiratory function in FSHD 1. Wohlgemuth M, Padberg GW. Neuromuscul Disord. 2017 Mar 22.
  16. Emerging roles of macrosatellite repeats in genome organization and disease development. Dumbovic G, Perucho M. Epigenetics. 2017 Apr 20
  17. Muscle Microdialysis to Investigate Inflammatory Biomarkers in FSHD. Tasca G, Ricci E. Mol Neurobiol. 2017 Apr 29
  18. Conservation and innovation in the DUX4-family gene network. Whiddon JL, Tapscott SJ. Nat Genet. 2017 May 1
  19. High-intensity interval training in FSHD 1: a randomized clinical trial. Andersen G, Vissing J. J Neurol. 2017 May 3
  20. A distal auxiliary element facilitates cleavage and polyadenylation of Dux4 mRNA in the pathogenic haplotype of FSHD. Peart N, Wagner EJ. Hum Genet. 2017 May 24.
  21. Cardiac Abnormalities in Type 1 Facioscapulohumeral Muscular Dystrophy. Labombarda F, Milliez P. J Clin Neuromuscul Dis. 2017 Jun;18
  22. Respiratory involvement in ambulant and non-ambulant patients with FSHD. Moreira S, Evangelista T. J Neurol. 2017 May 26
  23. Current status and future prospect of FSHD region gene 1. Hansda AK, , Dixit M. J Biosci. 2017 Jun
  24. SMCHD1 regulates a limited set of gene clusters on autosomal chromosomes. Mason AG, Tapscott SJ, Van der Maarel SM. Skelet Muscle. 2017 Jun 6
  25. 225th ENMC international workshop:: A global FSHD registry framework, 18-20 November 2016, Heemskerk, The Netherlands.Mul K, Kinoshita J, Dawkins H, van Engelen B, Tupler R; FSHD Consortium.Neuromuscul Disord. 2017 Apr 12
  26. Expression patterns of FSHD-causing DUX4 and myogenic transcription factors PAX3 and PAX7 are spatially distinct in differentiating human stem cell cultures. Haynes P, Miller DG. Skelet Muscle. 2017 Jun 21
  27. Cognitive behavioural therapy for reducing fatigue in post-polio syndrome & in FSHD. Koopman FS, Nollet F. J Rehabil Med. 2017 Jun 28.
  28. ##### T1 2017 ####
  29. Polycomb Repressive Complex 1 provides a molecular explanation for repeat copy number dependency in FSHD. Casa V, Gabellini D. Hum Mol Genet. 2016 Dec 30
  30. De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development.. Gordon CT, Reversade B. Nat Genet. 2017 Jan 9
  31. SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. Shaw ND, Talkowski ME,. Nat Genet. 2017 Feb
  32. Abnormal lipid metabolism in skeletal muscle tissue of patients with muscular dystrophy: In vitro, high-resolution NMR spectroscopy based observation in early phase of the disease. Srivastava NK, Sinha N. Magn Reson Imaging. 2017 Jan 6
  33. Combined treatment with intravitreal bevacizumab and laser photocoagulation for exudative maculopathy in FSHD. Matos R, Penas S Ophthalmic Genet. 2017 Jan 25
  34. Short-TERM Neuromuscular Electrical Stimulation Training of the Tibialis Anterior Did Not Improve Strength and Motor Function in Facioscapulohumeral Muscular Dystrophy Patients. Doix AM, Sacconi S. Am J Phys Med Rehabil. 2017 Jan 26.
  35. Large family cohorts of lymphoblastoid cells provide a new cellular model for investigating facioscapulohumeral muscular dystrophy. Jones TI, Jones PL. Neuromuscul Disord. 2016 Dec 23
  36. Long-term results of Letournel scapulothoracic fusion in FSHD: a retrospective study of eight cases. Le Hanneur M, Saint-Cast Y. Orthop Traumatol Surg Res. 2017 Jan 31.
  37. Bone Health in Facioscapulohumeral Muscular Dystrophy: A Cross-Sectional Study. Chagarlamudi H, Wagner K. Muscle Nerve. 2017 Feb 18
  38. The Epigenetic Regulator SMCHD1 in Development and Disease. Jansz N, , Blewitt ME. Trends Genet. 2017 Feb 17.
  39. Estrogens enhance myoblast differentiation in FSHD by antagonizing DUX4 activity. Teveroni E, Moretti F.J Clin Invest.2017 Mar 6
  40. DUX4-induced dsRNA and MYC mRNA stabilization activate apoptotic pathways in human cell models of FSHD. Shadle SC Tapscott SJ PLoS Genet 2017 Mar 8
  41. Antisense Oligonucleotides Used to Target the DUX4 mRNA as Therapeutic Approaches in FSHD. Ansseau E, Belayew A. Genes (Basel). 2017 Mar 3
  42. Respiratory pattern in a FSHD pediatric population. Van Kernebeek C, Van Engelen BG Respir Med. 2017 Mar 7