BjarneUddLab ретвитнул
Our mutation update for the ACTN2 gene onlinelibrary.wiley.com/doi/10.1002/hu… @UddLab @mriduljohari @FolkhalsanRC
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BjarneUddLab
18 posts
BjarneUddLab
@UddLab
The Udd lab is studying molecular pathology of rare neuromuscular disorders @folkhalsanRC @HelsinkiUniMed @helsinkiuni
Helsinki Присоединился Eylül 2020
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BjarneUddLab ретвитнул
The annual "Summer"! meeting of @UddLab was held at the beautiful #inkalankartano. Nice scientific discussions, planning and of course sauna by the lake.
Hämeenlinna, Suomi 🇫🇮 English
BjarneUddLab ретвитнул
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Grateful to @SuomenAkatemia for funding our research on #titinopathies for the next four years 🥳🍾 #titin #skeletalmuscle @FolkhalsanRC @HelsinkiUniMed @helsinkiuni
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1st in person group meeting with Bjarne in Helsinki @FolkhalsanRC since the pandemic started.
🥂for @mriduljohari getting the IBM paper published and starting the postdoc wrk. And Ali Oghabian getting 3yrs of support from Magnus Ehrnrooth foundation for studying splicing in NMDs
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Prof. Kevin P Campbell from @uiowa served as the honourable opponent. We really thank Kevin for a wonderful discussion 🙌🏻
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Our doctoral researcher @mriduljohari successfully defended his dissertation yesterday. 21 papers and counting, lots of learnings and a lot to look forward to 🍾🥳#musclegenetics
@FolkhalsanRC @helsinkiuni
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Our new article is available now: Dominant Distal Myopathy 3 (MPD3) Caused by a Deletion in the HNRNPA1 Gene ng.neurology.org/content/7/6/e6…
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BjarneUddLab ретвитнул
Do not miss our latest work @WMS2021. Tomorrow 6.30pm BST: ´Muscle biopsy and RNAseq in the diagnosis of titin related diseases´ #WMS #titin @Solve_RD @FolkhalsanRC @mriduljohari @UddLab @WorldMuscleSoc
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Exciting summer meeting of the Udd lab. Looking forward to an interesting year of scientific discoveries 👩🏼🔬🔬👨🏻🔬
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BjarneUddLab ретвитнул
Our new article is now available: Out-of-Frame Mutations in ACTN2 Last Exon Cause a Dominant Distal Myopathy With Facial Weakness ng.neurology.org/content/7/5/e6…
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Our new publication is finally online. Many thanks to our collaborators for this effort 🎊
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Prof Coen Ottenheijm is one of our partners in the IDOLS-G project funded by @EJPRareDiseases
Listen to this exciting webinar on 14.12
HiLIFE_Helsinki@HiLIFE_helsinki
Welcome Coen Ottenheijm to give a #hilifewebinars on topic "Congenital neuromuscular disorder of nemaline myopathy and on an acquired disorder of the diaphragm" 14.12.2020 at 12:00 (UTC+2). Join here: helsinki.zoom.us/j/62422958785 #bmhsem #viikkimon @helsinkiuni @amchelsinki
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Prof Marco Linari is one of our partners in the IDOLS-G project funded by @EJPRareDiseases
Please join and listen to this exciting seminar. #hilifewebinars
HiLIFE_Helsinki@HiLIFE_helsinki
Welcome Marco Linari to give us a #hilifewebinars presentation on topic "Molecular mechanisms of muscle contraction" 9.11.2020 at 12:00 (UTC+2). Join here: helsinki.zoom.us/j/62422958785 #bmhsem #viikkimon @amchelsinki @helsinkiuni More info: bit.ly/3kSyVN0
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BjarneUddLab ретвитнул
Solve-RD Seeding Grant awarded to fund collaboration project @helsinkiuni. @PerttiPanula will use #zebrafish model to validate novel disease gene discovered by @UddLab @FolkhalsanRC @helsinkiuni in patients with distal #myopathy.
👉 solve-rd.eu/rdmm-europe/fu…
@euro_nmd
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Please watch on demand poster talk nr. 1089 on a novel distal myopathy phenotype #ASHG20
If you have any questions do contact us 🙂
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BjarneUddLab ретвитнул
Amazing presentation by @mriduljohari at #ASHG20 #ASHG2020... a novel gene causing distal myopathy! #latenightscience
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Today in #WMS2020 O.01 our PhD student @mriduljohari will be presenting: ‘Mutations in SMPX gene cause the first X-linked distal myopathy’ @amchelsinki @helsinkiuni @FolkhalsanRC @Solve_RD
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