FSHD publications
Manuel Cabral

2017: FSHD publications


    ##### T2 2017 ####
  1. Respiratory function in FSHD 1. Wohlgemuth M, Padberg GW. Neuromuscul Disord. 2017 Mar 22.
  2. Emerging roles of macrosatellite repeats in genome organization and disease development. Dumbovic G, Perucho M. Epigenetics. 2017 Apr 20
  3. Muscle Microdialysis to Investigate Inflammatory Biomarkers in FSHD. Tasca G, Ricci E. Mol Neurobiol. 2017 Apr 29
  4. Conservation and innovation in the DUX4-family gene network. Whiddon JL, Tapscott SJ. Nat Genet. 2017 May 1
  5. High-intensity interval training in FSHD 1: a randomized clinical trial. Andersen G, Vissing J. J Neurol. 2017 May 3
  6. 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.
  7. Cardiac Abnormalities in Type 1 Facioscapulohumeral Muscular Dystrophy. Labombarda F, Milliez P. J Clin Neuromuscul Dis. 2017 Jun;18
  8. Respiratory involvement in ambulant and non-ambulant patients with FSHD. Moreira S, Evangelista T. J Neurol. 2017 May 26
  9. Current status and future prospect of FSHD region gene 1. Hansda AK, , Dixit M. J Biosci. 2017 Jun
  10. SMCHD1 regulates a limited set of gene clusters on autosomal chromosomes. Mason AG, Tapscott SJ, Van der Maarel SM. Skelet Muscle. 2017 Jun 6
  11. 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
  12. 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
  13. Cognitive behavioural therapy for reducing fatigue in post-polio syndrome & in FSHD. Koopman FS, Nollet F. J Rehabil Med. 2017 Jun 28.
  14. ##### T1 2017 ####
  15. 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
  16. De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development.. Gordon CT, Reversade B. Nat Genet. 2017 Jan 9
  17. 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
  18. 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
  19. Combined treatment with intravitreal bevacizumab and laser photocoagulation for exudative maculopathy in FSHD. Matos R, Penas S Ophthalmic Genet. 2017 Jan 25
  20. 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.
  21. 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
  22. 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.
  23. Bone Health in Facioscapulohumeral Muscular Dystrophy: A Cross-Sectional Study. Chagarlamudi H, Wagner K. Muscle Nerve. 2017 Feb 18
  24. The Epigenetic Regulator SMCHD1 in Development and Disease. Jansz N, , Blewitt ME. Trends Genet. 2017 Feb 17.
  25. Estrogens enhance myoblast differentiation in FSHD by antagonizing DUX4 activity. Teveroni E, Moretti F.J Clin Invest.2017 Mar 6
  26. 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
  27. Antisense Oligonucleotides Used to Target the DUX4 mRNA as Therapeutic Approaches in FSHD. Ansseau E, Belayew A. Genes (Basel). 2017 Mar 3
  28. Respiratory pattern in a FSHD pediatric population. Van Kernebeek C, Van Engelen BG Respir Med. 2017 Mar 7