FSHD Leiden
@fshd_leiden
Official Twitter account of the FSHD research group at the LUMC
ID: 1463585477261500427
24-11-2021 19:10:47
45 Tweet
145 Followers
106 Following
Great to see our joint study with the Blewitt lab describing a SMCHD1 variant with enhanced silencing capacity published in Nature Communications! doi.org/10.1038/s41467… Marnie Blewitt FSHD Leiden Nature Communications
📷📷 Out today, our large collaborative study reporting a separation of function variant in SMCHD1. Great team effort from WEHI (Walter and Eliza Hall Institute) FSHD Leiden ARMI NUS A*STAR. Congrats twitterless Andres Tapia del Fierro and all authors! rdcu.be/dmV73
Researchers have found a gene linked to muscular dystrophy can be safely boosted in the lab, limiting the production of a protein known to trigger the #disease. The findings in Nature Communications could lead to a future treatment for the genetic condition. 🧵1/2 wehi.edu.au/news/chance-di…
The research findings, led by WEHI, are underpinned by a global collaboration involving LUMC Leiden (Netherlands), The Crick (UK), A*STAR Research (Singapore), ARMI and WEHI’s structural biology, bioinformatics, genomics and imaging teams. 👏👏👏
Our collaborative study with the Pijnappel lab just appeared in StemCellReports . FSHD Leiden Erasmus MC
Our collaborative study with the Pijnappel lab and Optics11 Life B.V. just appeared in Advanced Materials Technologies Erasmus MC Optics11 Life: onlinelibrary.wiley.com/doi/full/10.10…
Enjoying our collaboration with the Bugiardini team on established and emerging DNA diagnostic technologies for FSHD. doi.org/10.3390/biom13…. FSHD Leiden ICGNMD UCL_QS_CNMD
Happy to share our latest paper where we compare two techniques for measuring contracted allele size in FSHD disease – Southern blotting and Bionano Optical Genome Mapping. ICGNMD The Neurogenetics Lab ION FSHD Leiden vishnu v y Enrico Bugiardini Prof Michael Hanna mdpi.com/2218-273X/13/1…
Check out our recent study on single nucleus RNAseq in FSHD myonuclei suggesting a heterogeneous response to DUX4. Human Molecular Genetics, ddad186, doi.org/10.1093/hmg/dd…. FSHD Leiden
Great to see our collaborative effort in the diagnosis of FSHD by optical genome mapping published in Neurology Genetics FSHD Leiden Neurology Journal #FSHD DOI: doi.org/10.1212/NXG.00…
Happy to see our collaborative study with the Pijnappel lab published in Skeletal Muscle Erasmus MC: …eletalmusclejournal.biomedcentral.com/articles/10.11…
ICGNMD publishes1st Indian FSHD cohort nature.com/articles/s4143… AIIMS, Delhi, Leiden University Medical Centre & UCL London show overlapping but distinct FSHD genetics compared to Europe, underscoring importance of global rare disease research vishnu v y Enrico Bugiardini FSHD Leiden
Great team work to explore FSHD genetics in India. Many thanks to FSHD Leiden group- Richard Lemmers, Patrick and Silvere vd Maarel and UCL team Enrico Bugiardini Stephanie Efthymiou, PhD AFHEA🇨🇾🇬🇧 Will Macken Prof Michael Hanna and our fellows at AIIMS Alisha, Rinkle and Tanveer and our mentor Prof.Padma.
Best practice guidelines on genetic diagnostics of FSHD: Update of the 2012 guidelines - Giardina - Clinical Genetics - Wiley Online Library onlinelibrary.wiley.com/doi/10.1111/cg… FSHD Leiden FSHD Society #FSHD ClinGenetNews Dr Pedro J Tomaselli ICGNMD A/Prof Gina Ravenscroft 🇿🇦🇦🇺 Ichizo Nishino Silvere vd Maarel
🇮🇳 👉The first genetically confirmed cohort of #FSHD from Northern India 💡Need for global FSHD participation in research and trial-ready with Indian FSHD cohorts 📰pubmed.ncbi.nlm.nih.gov/38664571/ vishnu v y FSHD Leiden
🇪🇺🇳🇱 👉#FSHD: The long road to DUX4 by George W. Padberg - 26th Meryon Lecture St Anne's College, Oxford, 5th July 2024 💡There is the firmly based hope that treatment might be reached earlier. 📰nmd-journal.com/article/S0960-… FSHD Leiden FSHDUK Muscular Dystrophy UK FSHD Society FSHD Global Research
