FSHD NEWS over the world. Research and patients networks #FSHD #CureFSHD #WorldFSHDDay = June 20th
Europe
Joined February 2016
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👉DUX4 at 25: how it emerged from "junk DNA" to become the cause of #FSHD
💡The history of DUX4, from genetic linkage studies in the 1990s, through to identification of the DUX4 gene in 1999
👉pubmed.ncbi.nlm.nih.gov/4085…
@DimusChile @VivirconFSHD @MacaDiazU @Dyne_tx @abrafeu
🧬@Vita_Tx and I Peace announced a development program to generate iPS-derived differentiated cells for transplant therapy with an initial focus on #FSHD using universal #iPS cells
@ToshifumiYokota @vishnuvy @DongxuZheng @oligogirl
prnewswire.com/news-releases…
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👉Iron supplementation alleviates pathologies in a mouse model of #FSHD
💡DUX4-provoked toxicity is involved in the activation of the ferroptosis-related pathway
📰jci.org/articles/view/181881
(pdf) jci.org/articles/view/181881…
@FSHD_ST @AJCLindsy
FSHD News retweeted
Thank you to everyone who joined us for the 2025 International Research Congress & the Industry Collaborative. The festivities are not over! This weekend also includes the inaugural FSHD EU Connect Conference & the Project Mercury Global Task Force meeting.
#FSHD #FSHDResearch
🇪🇺👉Machine learning-driven Heckmatt grading in #FSHD: A novel pathway for musculoskeletal ultrasound analysis
💡Automatic pipeline for muscle ultrasound analysis, leveraging learning and quantitative Heckmatt grading
📰pubmed.ncbi.nlm.nih.gov/4002…
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👉Strength and functional correlates of reachable workspace in #FSHD
Correlations between total relative surface area and upper extremity strength measured by quantitative muscle testing
pubmed.ncbi.nlm.nih.gov/3997…
🇪🇺🇳🇱
👉Prevalence and incidence rates of 17 neuromuscular disorders: An updated review of the literature
💡#FSHD:
#Incidence rate 0.3
#Prevalence rate-Mean /100,000: 5
Prevalence rate-Range/100,000: 0.79–12
📰journals.sagepub.com/doi/abs…
@helenmwalker44 @PiliCamano
@MyologyLab
👍@SOLVEFSHD Announces Strategic Collaboration with @transcriptabio to Advance Drug Discovery for FSHD
@MDUK_News @vishnuvy @Brandon__Alexan @TREAT_NMD
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👉Proteomic profiling uncovers sexual dimorphism in the muscle response to wheel running exercise in the FLExDUX4 murine model of #FSHD
💡Mice recapitulates characteristics of FSHD, alterations to mitochondria, RNA metabolism, ROS, & apoptosis.
biorxiv.org/content/10.1101/…
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👉Sarcolemmal dysfunction in #FSHD: An assessment using muscle velocity recovery cycles
💡The study suggests that functional changes in muscle membrane properties occur early in FSHD
📑pubmed.ncbi.nlm.nih.gov/4008…
@FSHD
@muscles4muscle
@RitaJSerrano
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👉Muscle imaging in #FSHD research: A scoping review and expert recommendations
💡A specific muscle ultrasound protocol is suitable for diagnosis and has potential as both a prognostic and monitoring biomarker in FSHD research.
📑 nmd-journal.com/article/S096…
@helenmwalker44
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👉High prevalence of #FSHD and inflammatory myopathies association: Is there an interplay ?
💡Prevalence of FSHD in the IIM cohort was 1/350, and the prevalence of IIM in the FSHD cohort was 1/40
📰pubmed.ncbi.nlm.nih.gov/3985…
@NizarSaad20
@Matt_Muscle_Guy
@TheChair1130
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👉Increased muscle satellite cell content and preserved telomere length in response to combined exercise training in patients with #FSHD
💡These findings suggest that such training supports muscle regeneration without accelerating cellular aging.
📰pmc.ncbi.nlm.nih.gov/article…
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👉The Unexplored Role of Connexin Hemichannels in Promoting #FSHD Progression
💡FSHD progression, with a focus on hormones, inflammation, reactive oxygen species (ROS), and mitochondrial function
📰pmc.ncbi.nlm.nih.gov/article…
@DimusChile @VivirconFSHD @MacaDiazU
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👉The distribution of D4Z4 repeats in China and direct prenatal diagnosis of FSHD by optical genome mapping
💡Optical genome mapping is an accurate and effective method for the prenatal diagnosis
pmc.ncbi.nlm.nih.gov/article…
@FSHD_China @PiliCamano @FSHD_Leiden
@MyologyLab
FSHD News retweeted
💪 Scientists with Dr. Oscar Horwath at @orebrouni suggested that combined exercise training elicited beneficial muscular adaptations without impairing important indicators of skeletal #muscle regenerative capacity in patients with #FSHD.
👉 @JPhysiol | bit.ly/4hIhwnH
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👉Bilateral foot drop as presenting feature of #FSHD 1
💡The relevance of a thorough clinical examination, accompanied by conventional diagnostic applications to obtain a correct #genetic #diagnosis
📰pmc.ncbi.nlm.nih.gov/article…
@Oliver_S_MD
@MacaDiazU
@BaudotAnais
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👉Sternal Reconstruction for Refractory Pectus Excavatum From #FSHD
💡Successful implantation of a customized sternal plate in the treatment of a patient with refractory pectus excavatum
📰 pmc.ncbi.nlm.nih.gov/article…
@fdphilp @sduguez_lab @rmunil @PhysioForMotion
@LivUniPhysio
🇪🇺👉Double trouble: a comprehensive study into unrelated genetic comorbidities in adult patients with #FSHD
💡In 14/18 patients, FSHD-unrelated genetic causes, most often unrelated repeat expansion disorders
📑pubmed.ncbi.nlm.nih.gov/3977…
@PiliCamano @FshdDonostia @helenmwalker44
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👉#DUX4-induced HSATII RNA accumulation drives protein aggregation impacting RNA processing pathways
💡HSATII-RNP formation on #RNA processing pathways provides valuable insight underlying #FSHD.
pmc.ncbi.nlm.nih.gov/article…
@RNA_biologist @lajollalabs
@Matt_Muscle_Guy