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Select item 110701351.

Muscle eosinophilia is a hallmark of chronic disease in facioscapulohumeral muscular dystrophy

Andreia M Nunes, Monique M Ramirez, Enrique Garcia-Collazo, Takako Iida Jones, Peter L Jones

Hum Mol Genet. 2024 May 15; 33(10): 872–883. Published online 2024 Feb 10. doi: 10.1093/hmg/ddae019

PMCID:: PMC11070135

Abstract Article PDF–1.9M

Select item 110625722.

Exchange of subtelomeric regions between chromosomes 4q and 10q reverts the FSHD genotype and phenotype

Yinxing Ma, Anna Schwager (Karpukhina), Carla Dib, Candice Gautier, Olivier Hermine, Eric Allemand, Yegor S. Vassetzky

Sci Adv. 2024 May 3; 10(18): eadl1922. Published online 2024 May 1. doi: 10.1126/sciadv.adl1922

PMCID:: PMC11062572

Abstract Article PDF–1.9M

Select item 110532383.

Comparison of CIMT and FMD in the Brachial Artery between Children with Acyanotic Congenital Heart Disease and Healthy Controls: A Case-Control Study

Alireza Ahmadi, Mehdi Ghaderian, Hajar Nourmohammadi, Mohammad Reza Sabri, Bahar Dehghan, Chehreh Mahdavi

J Tehran Heart Cent. 2023 Oct; 18(4): 256–260. doi: 10.18502/jthc.v18i4.14824

PMCID:: PMC11053238

Abstract Article PDF–922K

Select item 110242324.

Prophylactic treatment with PEGylated bovine IFNλ3 effectively bridges the gap in vaccine-induced immunity against FMD in cattle

Sarah E. Attreed, Christina Silva, Monica Rodriguez-Calzada, Aishwarya Mogulothu, Sophia Abbott, Paul Azzinaro, Peter Canning, Lillian Skidmore, Jay Nelson, Nick Knudsen, Gisselle N. Medina, Teresa de los Santos, Fayna Díaz-San Segundo

Front Microbiol. 2024; 15: 1360397. Published online 2024 Apr 4. doi: 10.3389/fmicb.2024.1360397

PMCID:: PMC11024232

Abstract Article PDF–5.3M

Select item 109773835.

Facioscapulohumeral Muscular Dystrophy European Patient Survey: Assessing Patient Reported Disease Burden and Preferences in Clinical Trial Participation

Megan M. McNiff, Sheila Hawkins, Bine Haase, Joanne Bullivant, Tammy McIver, Olga Mitelman, Nicholas Emery, Giorgio Tasca, Nicol Voermans, Jordi Diaz-Manera

J Neuromuscul Dis. 2024; 11(2): 459–472. Prepublished online 2024 Jan 24. Published online 2024 Mar 5. doi: 10.3233/JND-230171

PMCID:: PMC10977383

Abstract Article PDF–1.0M

Select item 109773826.

IL-6 and TNF are Potential Inflammatory Biomarkers in Facioscapulohumeral Muscular Dystrophy

Anna Greco, Karlien Mul, Martin H. Jaeger, Jéssica C. dos Santos, Hans Koenen, Leon de Jong, Ritse Mann, Jurgen Fütterer, Mihai G. Netea, Ger J.M. Pruijn, Baziel G.M. van Engelen, Leo A.B. Joosten

J Neuromuscul Dis. 2024; 11(2): 327–347. Prepublished online 2024 Jan 12. Published online 2024 Mar 5. doi: 10.3233/JND-230063

PMCID:: PMC10977382

Abstract Article PDF–1.2M

Select item 109655987.

Living with facioscapulohumeral muscular dystrophy during the first two COVID-19 outbreaks: a repeated patient survey in the Netherlands

Johanna C. W. Deenen, Joost Kools, Anna Greco, Renée Thewissen, Wiecke van de Put, Anke Lanser, Leo A. B. Joosten, Andre L. M. Verbeek, Baziel G. M. van Engelen, Nicol C. Voermans

Acta Neurol Belg. 2024; 124(2): 559–566. Published online 2024 Jan 13. doi: 10.1007/s13760-023-02443-3

PMCID:: PMC10965598

Abstract Article PDF–817K

Select item 109647858.

Predicting Endothelium-Dependent Diastolic Function (FMD) and Its Correlation with the Degree of Coronary Artery Disease (CAD) and Plaque Vulnerability for Cardiovascular Events

Guangming Zhang, Jing Yang, Hanghang Xing, Hongning Yin, Guoqing Gu

Int J Gen Med. 2024; 17: 1117–1125. Published online 2024 Mar 22. doi: 10.2147/IJGM.S435417

PMCID:: PMC10964785

Abstract Article PDF–1019K

Select item 109519859.

Engineered FSHD mutations results in D4Z4 heterochromatin disruption and feedforward DUX4 network activation

Xiangduo Kong, Nam Viet Nguyen, Yumeng Li, Jasmine Shaaban Sakr, Kate Williams, Sheila Sharifi, Jonathan Chau, Altay Bayrakci, Seiya Mizuno, Satoru Takahashi, Tohru Kiyono, Rabi Tawil, Ali Mortazavi, Kyoko Yokomori

iScience. 2024 Apr 19; 27(4): 109357. Published online 2024 Feb 29. doi: 10.1016/j.isci.2024.109357

PMCID:: PMC10951985

Abstract Article PDF–4.6M

Select item 1090104310.

Combined Lumbar-Sacral Plexus Block in Facioscapulohumeral Muscular Dystrophy for Hip Fracture Surgery: A Case Report

Mete Manici, İlayda Kalyoncu, Cemil Cihad Gedik, Mehmet Ali Deveci, Yavuz Gürkan

Turk J Anaesthesiol Reanim. 2024 Feb; 52(1): 36–38. Published online 2024 Feb 28. doi: 10.4274/TJAR.2024.231471

PMCID:: PMC10901043

Abstract Article PDF–432K

Select item 1089263911.

Evaluation of Foot-and-Mouth Disease (FMD) Virus Asia1 Genotype-V as an FMD Vaccine Candidate: Study on Vaccine Antigen Production Yield and Inactivation Kinetics

Jae Young Kim, Sun Young Park, Sang Hyun Park, Gyeongmin Lee, Jong-Sook Jin, Dohyun Kim, Jong-Hyeon Park, Seong-Yun Jeong, Young-Joon Ko

Vaccines (Basel) 2024 Feb; 12(2): 185. Published online 2024 Feb 12. doi: 10.3390/vaccines12020185

PMCID:: PMC10892639

Abstract Article PDF–1.1M

Select item 1086718312.

Case report: Identification of facioscapulohumeral muscular dystrophy 1 in two siblings with normal phenotypic parents using optical genome mapping

Jieni Jiang, Xiaotang Cai, Haibo Qu, Qiang Yao, Tiantian He, Mei Yang, Hui Zhou, Xuemei Zhang

Front Neurol. 2024; 15: 1258831. Published online 2024 Feb 1. doi: 10.3389/fneur.2024.1258831

PMCID:: PMC10867183

Abstract Article PDF–1.7M

Select item 1083425013.

Autosomal dominant in cis D4Z4 repeat array duplication alleles in facioscapulohumeral dystrophy

Richard J L F Lemmers, Russell Butterfield, Patrick J van der Vliet, Jan L de Bleecker, Ludo van der Pol, Diane M Dunn, Corrie E Erasmus, Marc D'Hooghe, Kristof Verhoeven, Judit Balog, Anne Bigot, Baziel van Engelen, Jeffrey Statland, Enrico Bugiardini, Nienke van der Stoep, Teresinha Evangelista, Chiara Marini-Bettolo, Peter van den Bergh, Rabi Tawil, Nicol C Voermans, John Vissing, Robert B Weiss, Silvère M van der Maarel

Brain. 2024 Feb; 147(2): 414–426. Published online 2023 Sep 13. doi: 10.1093/brain/awad312

PMCID:: PMC10834250

Abstract Article PDF–1.3M

Select item 1081926914.

Surface-Plasmon-Resonance Amplification of FMD Detection through Dendrimer Conjugation

Seung Jun Jung, Jin-Won Park

Sensors (Basel) 2024 Jan; 24(2): 579. Published online 2024 Jan 17. doi: 10.3390/s24020579

PMCID:: PMC10819269

Abstract Article PDF–1.0M

Select item 1080001615.

snRNA-seq analysis in multinucleated myogenic FSHD cells identifies heterogeneous FSHD transcriptome signatures associated with embryonic-like program activation and oxidative stress-induced apoptosis

Dongxu Zheng, Annelot Wondergem, Susan Kloet, Iris Willemsen, Judit Balog, Stephen J Tapscott, Ahmed Mahfouz, Anita van den Heuvel, Silvère M van der Maarel

Hum Mol Genet. 2024 Feb 1; 33(3): 284–298. Published online 2023 Nov 2. doi: 10.1093/hmg/ddad186

PMCID:: PMC10800016

Abstract Article PDF–5.0M

Select item 1077204216.

FSHD muscle shows perturbation in fibroadipogenic progenitor cells, mitochondrial function and alternative splicing independently of inflammation

Elise N Engquist, Anna Greco, Leo A B Joosten, Baziel G M van Engelen, Peter S Zammit, Christopher R S Banerji

Hum Mol Genet. 2024 Jan 15; 33(2): 182–197. Published online 2023 Oct 19. doi: 10.1093/hmg/ddad175

PMCID:: PMC10772042

Abstract Article PDF–2.2M

Select item 1077053717.

Voluntary wheel running improves molecular and functional deficits in a murine model of facioscapulohumeral muscular dystrophy

Adam J. Bittel, Daniel C. Bittel, Heather Gordish-Dressman, Yi-Wen Chen

iScience. 2024 Jan 19; 27(1): 108632. Published online 2023 Dec 2. doi: 10.1016/j.isci.2023.108632

PMCID:: PMC10770537

Abstract Article PDF–9.1M

Select item 1076836418.

Physical activity practiced at a young age is associated with a less severe subsequent clinical presentation in facioscapulohumeral muscular dystrophy

Cinzia Bettio, Federico Banchelli, Valentina Salsi, Roberto Vicini, Oscar Crisafulli, Lucia Ruggiero, Giulia Ricci, Elisabetta Bucci, Corrado Angelini, Angela Berardinelli, Silvia Bonanno, Maria Grazia D’Angelo, Antonio Di Muzio, Massimiliano Filosto, Erica Frezza, Lorenzo Maggi, Tiziana Mongini, Elena Pegoraro, Carmelo Rodolico, Marina Scarlato, Gaetano Vattemi, Daniele Velardo, Giuliano Tomelleri, Roberto D’Amico, Giuseppe D’Antona, Rossella Tupler

BMC Musculoskelet Disord. 2024; 25: 35. Published online 2024 Jan 5. doi: 10.1186/s12891-023-07150-x

PMCID:: PMC10768364

Abstract Article PDF–1.1M

Select item 1074319119.

Evaluation of Optical Genome Mapping in Clinical Genetic Testing of Facioscapulohumeral Muscular Dystrophy

Anja Kovanda, Luca Lovrečić, Gorazd Rudolf, Ivana Babic Bozovic, Helena Jaklič, Lea Leonardis, Borut Peterlin

Genes (Basel) 2023 Dec; 14(12): 2166. Published online 2023 Nov 30. doi: 10.3390/genes14122166

PMCID:: PMC10743191

Abstract Article PDF–992K

Select item 1072493020.

Hypoxia enhances human myoblast differentiation: involvement of HIF1α and impact of DUX4, the FSHD causal gene

Thuy-Hang Nguyen, Lise Paprzycki, Alexandre Legrand, Anne-Emilie Declèves, Philipp Heher, Maelle Limpens, Alexandra Belayew, Christopher R. S. Banerji, Peter S. Zammit, Alexandra Tassin

Skelet Muscle. 2023; 13: 21. Published online 2023 Dec 16. doi: 10.1186/s13395-023-00330-2

PMCID:: PMC10724930

Abstract Article PDF–7.3M

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