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FSHD News Profile
FSHD News

@mpcfshd

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FSHD NEWS over the world. Research and patients networks #FSHD #CureFSHD #WorldFSHDDay = June 20th

Europe
Joined February 2016
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@mpcfshd
FSHD News
3 months
🇧🇪🇦🇷🇬🇧 👉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 👉 https://t.co/qOSd0TlRzB @DimusChile @VivirconFSHD @MacaDiazU @Dyne_tx @abrafeu
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@mpcfshd
FSHD News
4 months
🧬@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 https://t.co/6cbfkEs4GX
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prnewswire.com
/PRNewswire/ -- Leading GMP cell CDMO I Peace, Inc. (https://ipeace.com/en/), specializing in induced pluripotent stem cells (iPSCs) and iPSC-derived cell...
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@mpcfshd
FSHD News
4 months
🇯🇵 👉Iron supplementation alleviates pathologies in a mouse model of #FSHD 💡DUX4-provoked toxicity is involved in the activation of the ferroptosis-related pathway 📰 https://t.co/zqZb3gpjd8 (pdf) https://t.co/QbZZoW2aNi @FSHD_ST @AJCLindsy
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@FSHDSociety
FSHD Society
5 months
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
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@mpcfshd
FSHD News
7 months
🇪🇺👉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 📰 https://t.co/mVuxqaNhaB
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@mpcfshd
FSHD News
7 months
🇺🇸🇪🇺 👉Strength and functional correlates of reachable workspace in #FSHD Correlations between total relative surface area and upper extremity strength measured by quantitative muscle testing https://t.co/MSF3PwvrAU
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@mpcfshd
FSHD News
8 months
🇪🇺🇳🇱 👉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 📰 https://t.co/tTvqXbz4A2 @helenmwalker44 @PiliCamano @MyologyLab
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journals.sagepub.com
Background: Epidemiological frequency measures serve as reference point for patients, clinicians, researchers, and policymakers. Previously, we published a comp...
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@mpcfshd
FSHD News
8 months
👍@SOLVEFSHD Announces Strategic Collaboration with @transcriptabio to Advance Drug Discovery for FSHD @MDUK_News @vishnuvy @Brandon__Alexan @TREAT_NMD
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@mpcfshd
FSHD News
8 months
🇺🇸🇬🇧 👉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. https://t.co/MOZupQRoWO
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@mpcfshd
FSHD News
8 months
🇦🇺 👉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 📑 https://t.co/oIZJpDk10E @FSHD @muscles4muscle @RitaJSerrano
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@mpcfshd
FSHD News
8 months
🇪🇺🇺🇸 👉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. 📑 https://t.co/d1SxM03goL @helenmwalker44
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nmd-journal.com
Facioscapulohumeral muscular dystrophy (FSHD) is a hereditary muscle disorder and the second most common muscular dystrophy in adulthood, with an estimated prevalence of approximately 12 per 100,000...
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@mpcfshd
FSHD News
8 months
🇪🇺🇫🇷🇮🇹 👉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 📰 https://t.co/H2K93J5QbG @NizarSaad20 @Matt_Muscle_Guy @TheChair1130
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pubmed.ncbi.nlm.nih.gov
Our study showed a high prevalence of FSHD and IIM association compared to the general population, with underlying mechanisms that remain unclear. This association might be more frequent than...
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@mpcfshd
FSHD News
9 months
🇪🇺 👉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. 📰 https://t.co/yLMeTn0rsy
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@mpcfshd
FSHD News
9 months
🇨🇱 👉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 📰 https://t.co/pYJdniY4J9 @DimusChile @VivirconFSHD @MacaDiazU
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@mpcfshd
FSHD News
9 months
🇨🇳 👉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 https://t.co/1mpXs68lxp @FSHD_China @PiliCamano @FSHD_Leiden @MyologyLab
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@musclecellnews
Muscle Cell News
10 months
💪 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 | https://t.co/oT5A6k4s6g
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@mpcfshd
FSHD News
9 months
🇪🇺🇦🇹 👉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 📰 https://t.co/XENOv8abVB @Oliver_S_MD @MacaDiazU @BaudotAnais
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@mpcfshd
FSHD News
10 months
🇺🇸 👉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 📰 https://t.co/rvqXQzECCh @fdphilp @sduguez_lab @rmunil @PhysioForMotion @LivUniPhysio
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@mpcfshd
FSHD News
10 months
🇪🇺👉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 📑 https://t.co/tEhuZmkK9T @PiliCamano @FshdDonostia @helenmwalker44
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pubmed.ncbi.nlm.nih.gov
Facioscapulohumeral dystrophy type 1 (FSHD1) displays prominent intra- and interfamilial variability, which complicates the phenotype-genotype correlation. In this retrospective study, we investiga...
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@mpcfshd
FSHD News
10 months
🇺🇸 👉#DUX4-induced HSATII RNA accumulation drives protein aggregation impacting RNA processing pathways 💡HSATII-RNP formation on #RNA processing pathways provides valuable insight underlying #FSHD. https://t.co/tXhWFlcLYB @RNA_biologist @lajollalabs @Matt_Muscle_Guy
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