2016: FSHD publications
2016 FSHD SCIENTIFIC PUBLICATIONS
##### DECEMBER ####
- 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
- MRI as outcome measure in facioscapulohumeral muscular dystrophy: 1-year follow-up of 45 patients. Andersen G, Vissing J. J Neurol. 2016 Dec 20
- Features of FSHD in oral and maxillofacial region and MRI analysis of facial muscles.Liu YH, Zhang ZY. Zhonghua Kou Qiang Yi Xue Za Zhi. 2016 Dec 9
- Facioscapulohumeral Muscular Dystrophy. Statland JM, Tawil R. Continuum (Minneap Minn). 2016 Dec
- A population-based epidemiologic study of adult neuromuscular disease in the Republic of Ireland. Lefter S, Hardiman O, Ryan AM. Neurology. 2016 Dec 7.
- Nuclear bodies reorganize during myogenesis in vitro and are differentially disrupted by expression of FSHD-associated DUX4. Homma S, Miller JB.
##### NOVEMBER ####
- A complex interplay of genetic and epigenetic events leads to abnormal expression of the DUX4 gene in FSHD. Gatica LV, Rosa AL.Neuromuscul Disord. 2016 Sep 19
- Analyzing Copy Number Variation Using Pulsed-Field Gel Electrophoresis: Providing a Genetic Diagnosis for FSHD1. Lemmers RJ. Methods Mol Biol. 2017
- Ret function in muscle stem cells points to tyrosine kinase inhibitor therapy for FSHD Moyle LA, Zammit PS. Elife. 2016 Nov 14
- Leg Muscle Involvement in FSHD: Comparison between FSHD Types 1 and 2. Mair D, Ferbert A. Eur Neurol. 2016 Nov 18
- Diagnosis of unilateral trapezius muscle palsy: 54 cases. Seror P, Lenglet T. Muscle Nerve. 2016 Nov 16
##### OCTOBER #####
- Respiratory pattern in a FSHD pediatric population. Trucco F, Minetti C. Respir Med. 2016 Oct;
- PARP1 Differentially Interacts with Promoter region of DUX4 Gene in FSHD Myoblasts. Sharma V, Chen YW.
- Medication adherence in patients with myotonic dystrophy and FSHD. Fitzgerald BP, Moxley Iii RT. J Neurol. 2016 Oct 12.
- DUX4 induces a transcriptome more characteristic of a less-differentiated cell state and inhibits myogenesis. Knopp P, , Zammit PS. J Cell Sci. 2016 Oct 15
- Quantitative MRI reveals decelerated fatty infiltration in muscles of active FSHD patients. Ferguson MR, Heerschap A.Neurology. 2016 Oct 18
- Fatigue in facioscapulohumeral muscular dystrophy: a qualitative study of people's experiences. Schipper K, Abma T. Disabil Rehabil. 2016 Oct 20
##### SEPTEMBER #####
- Spontaneous resolution of retinal vascular abnormalities and macular oedema in facioscapulohumeral muscular dystrophy. Lindner M, Charbel Issa P. Clin Exp Ophthalmol. 2016 Sep
- Mouse Dux is myotoxic and shares partial functional homology with its human paralog DUX4. Eidahl JO, , Harper SQ. Hum Mol Genet. 2016 Sep 11
- Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report.Gaillard MC, Bartoli M. BMC Med Genet. 2016 Sep 15
- Muscle MRI of facioscapulohumeral dystrophy (FSHD): A growing demand and a promising approach. Fatehi F, Attarian S. Rev Neurol (Paris). 2016 Sep 20
- The motor function measure (MFM) in the facio scapulo humeral dystrophy (FSHD) population: Description and responsiveness. de Lattre C, Vuillerot C. Ann Phys Rehabil Med. 2016 Sep
##### AUGUST #####
- Targeting mRNA for the treatment of facioscapulohumeral muscular dystrophy. Bao B, Yokota T. Intractable Rare Dis Res. 2016 Aug
- Safety and efficacy of a 6-month home-based exercise program in patients with FSHD: A randomized controlled trial.Bankolé LC, , Féasson L.
edicine (Baltimore). 2016 Aug
- DUX4-inducedconstitutive DNA damage and oxidative stress contribute to aberrant differentiation of myoblasts from FSHD patients. Dmitriev P, , Vassetzky YS. Free Radic Biol Med. 2016 Aug 9
- FSHD in children: design of a prospective, observational study on natural history, predictors and clinical impact (iFocus FSHD). Goselink RJ, Erasmus CE. BMC Neurol. 2016 Aug 17;16(1):138.
- Model systems of DUX4 expression recapitulate the transcriptional profile of FSHD cells. Jagannathan S, Tapscott SJ. Hum Mol Genet. 2016 Aug 15.
- Dux4 controls migration of mesenchymal stem cells through the Cxcr4-Sdf1 axis. Dmitriev P, Vassetzky YS. Oncotarget. 2016 Aug 18
- Genetic and epigenetic contributors to FSHD. Daxinger L, van der Maarel SM. Curr Opin Genet Dev. 2015 Aug;
##### JULY #####
- Facioscapulohumeral Dystrophy. Wang LH, Tawil R. Curr Neurol Neurosci Rep. 2016 Jul
- Corrigendum to "Clinical, muscle pathological, and genetic features of Japanese facioscapulohumeral muscular dystrophy 2 (FSHD2) patients with SMCHD1 mutations" Hamanaka K, Nishino I. Neuromuscul Disord. 2016 Jul;26
- Derivation of FSHD1 affected human embryonic stem cell line Genea096. Dumevska B, Schmidt U. Stem Cell Res. 2016 Mar;16
- Morpholino-mediated Knockdown of DUX4 Toward Facioscapulohumeral Muscular Dystrophy Therapeutics. Chen JC, Wagner KR. Mol Ther. 2016 Jul 5
- Integrating clinical and genetic observations in facioscapulohumeral muscular dystrophy. Mul K, van Engelen BG. Curr Opin Neurol. 2016 Jul 6
- Validity of the Six Minute Walk Test in Facioscapulohumeral Muscular Dystrophy. Eichinger K, Muscle Nerve. 2016 Jul 16
- Teaching NeuroImages: Coats disease revealing facioscapulohumeral muscular dystrophy. Sgobbi de Souza PV, Bulle Oliveira AS. Neurology. 2016 Jul 26
- Influence of Repressive Histone and DNA Methylation upon D4Z4 Transcription in Non-Myogenic Cells. Das S, Chadwick BP. PLoS One. 2016 Jul 28
##### JUNE #####
- Correction of the Lower Lip With a Cartilage Graft and Lip Resection in Patients With Facioscapulohumeral Muscular Dystrophy. Matsumoto M, Kimata Y. J Craniofac Surg. 2016 Jun 13
- Chronic Myopathy Associated With Anti-Signal Recognition Particle Antibodies Can Be Misdiagnosed As Facioscapulohumeral Muscular Dystrophy. Ikeda K, Murata M. J Clin Neuromuscul Dis. 2016 Jun;17
##### MAY #####
- A Human Pluripotent Stem Cell Model of Facioscapulohumeral Muscular Dystrophy-Affected Skeletal Muscles. Caron L, Schmidt U. Stem Cells Transl Med. 2016 May 23
- It's not just physical: a qualitative study regarding the illness experiences of people with facioscapulohumeral muscular dystrophy. Bakker M, Abma TA. Disabil Rehabil. 2016 May 23:
- Facioscapulohumeral muscular dystrophy (FSHD) region gene 1 (FRG1) expression and possible function in mouse tooth germ development. Hasegawa K, Kiyoshima T. J Mol Histol. 2016 May 27
- Transcriptional Inhibitors Identified in a 160,000-Compound Small-Molecule DUX4 Viability Screen. Choi SH, Kyba M. J Biomol Screen. 2016 May 31
- Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of FSHD. van den Boogaard ML,, van der Maarel SM. Am J Hum Genet. 2016 May 5
- Design, set-up and utility of the UK facioscapulohumeral muscular dystrophy patient registry. Evangelista T, Lochmüller H.
##### APRIL #####
- A cross sectional study of two independent cohorts identifies serum biomarkers for FSHD. Petek LM, Miller DG. Neuromuscul Disord. 2016 Apr 22.
- Quantitative MRI reveals decelerated fatty infiltration in muscles of active FSHD patients. Janssen B, Heerschap A. Neurology. 2016 Apr 1
- Bimaxillary Osteotomy for Jaw Deformity With FSHD. Kawasaki T, , Asahina I. J Craniofac Surg. 2016 Apr 5.
- The epigenetic regulator Smchd1 contains a functional GHKL-type ATPase domain. Chen K, , Murphy JM.
- A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes. Ricci G, , Tupler R. J Neurol. 2016 Apr 28.
##### MARCH #####
- Magnetic Resonance Imaging in a large cohort of FSHD: pattern refinement and implications for clinical trials. Tasca G, Ricci E. Ann Neurol. 2016 Mar 19.
- Recurrent DUX4 fusions in B cell acute lymphoblastic leukemia of adolescents and young adults. Yasuda T, Mano H. Nat Genet. 2016 Mar 28
- Clinical, muscle pathological, and genetic features of Japanese FSHD2 patients with SMCHD1 mutations. Hamanaka K, Nishino I. Neuromuscul Disord. 2016 Mar 15.
- Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1-3 D4Z4 reduced alleles: experience of the FSHD Italian National Registry.
Nikolic A, , Tupler R. BMJ Open. 2016 Jan 5
- Chronic Myopathy Associated With Anti-Signal Recognition Particle Antibodies Can Be Misdiagnosed As Facioscapulohumeral Muscular Dystrophy. Ikeda K, Mori-Yoshimura M, Yamamoto T, Sonoo M, Suzuki S, Kondo Y, Nakamura H, Mitsuhashi K, Maeda MH, Shimizu J, Hayashi YK, Nishino I, Oya Y, Murata M. J Clin Neuromuscul Dis. 2016 Jun;17(4):197-206.
- Stem Cells Transl Med. 2016 May 23. A Human Pluripotent Stem Cell Model of Facioscapulohumeral Muscular Dystrophy-Affected Skeletal Muscles. Caron L(1), Kher D(2), Lee KL(3), McKernan R(2), Dumevska B(2), Hidalgo A(2), Li J(3), Yang H(3), Main H(2), Ferri G(4), Petek LM(5), Poellinger L(3), MillerDG(5), Gabellini D(6), Schmidt U(7).
- It's not just physical: a qualitative study regarding the illness experiences of people with FSHD. Bakker M, Abma TA. Disabil Rehabil. 2016 May 23:1-9
- A cross sectional study of two independent cohorts identifies serum biomarkers for FSHD. Petek LM, , Miller DG. Neuromuscul Disord. 2016 Apr 22
- Scalpel or Straitjacket: CRISPR/Cas9 Approaches for Muscular Dystrophies. Himeda CL, Jones TI, Jones PL.
- Metabolic status of patients with muscular dystrophy in early phase of the disease: In vitro, high resolution NMR spectroscopy based metabolomics analysis of serum. Srivastava NK, ..., Sinha N.
- Neuromuscular electrical stimulation promotes development in mice of mature human muscle from immortalized human myoblasts. Sakellariou P, ..., Bloch RJ.
- Spontaneous resolution of retinal vascular abnormalities and macular edema in facioscapulohumeral muscular dystrophy.Lindner M, Holz FG, Charbel Issa P.
- Transgenic Drosophila for Investigating DUX4 and FRG1, Two Genes Associated with Facioscapulohumeral Muscular Dystrophy (FSHD). Jones TI, .., Jones PL.
- Upper limb function and activity in people with facioscapulohumeral muscular dystrophy: a web-based survey. Bergsma A,...,de Groot IJ.
- DUX4 recruits p300/CBP through its C-terminus and induces global H3K27 acetylation changes. Choi SH, ..., Kyba M.
- Gene discovery for facioscapulohumeral muscular dystrophy by machine learning techniques. González-Navarro FF, ..., López-Morteo GA
- High Frequency Hearing Loss and Hyperactivity in DUX4 Transgenic Mice. Dandapat A, ..., Kyba M.
- What's in a name? The clinical features of facioscapulohumeral muscular dystrophy. Mul K, ..van Engelen BG.
- Facioscapulohumeral dystrophy myoblasts efficiently repair moderate levels of oxidative DNA damage. Bou Saada Y, ... Vassetzky YS.
- Electrical impedance myography in facioscapulohumeral muscular dystrophy. Statland JM, ... Tawil R.
- Allele-specific DNA hypomethylation characterises FSHD1 and FSHD2. P Calandra ... G Deidda.
- Homologous Transcription Factors DUX4 and DUX4c Associate with Cytoplasmic Proteins during Muscle Differentiation. Ansseau E...Coppée F
- Cellular Therapies for Muscular Dystrophies: Frustrations and Clinical Successes. Negroni E ...Mouly V.
- Antisense targeting of 3'end elements involved in DUX4 mRNA processing is an efficient therapeutic strategy for FSHD: a new gene silencing approach Marsollier AC...Dumonceaux J.
- Unusual scapular winging - A case report. - Dori Z1, Sarig Bahat
- Atypical initial manifestation of facioscapulohumeral muscular dystrophy mimicking neuralgic amyotrophy. - Park KH, Kang DW, Lee KW, Sung JJ.
- Remotely acting SMCHD1 gene regulatory elements: in silico prediction and identification of potential regulatory variants in patients with FSHD Mary B. Mayes...Upadhyaya, and Chuzhanova
- Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1–3 D4Z4 reduced alleles: experience of the FSHD Italian National Registry Ana Nikolic ... Rossella Tupler