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