BjarneUddLab

The Udd lab is studying molecular pathology of rare neuromuscular disorders @folkhalsanRC @HelsinkiUniMed @helsinkiuni

[Marco Savarese @MarcoSavareseIT]

Our mutation update for the ACTN2 gene https://t.co/lb3umCNe53 @UddLab @mriduljohari @FolkhalsanRC

[Ali Oghabian @gacatag]

The annual "Summer"! meeting of @UddLab was held at the beautiful #inkalankartano. Nice scientific discussions, planning and of course sauna by the lake.

[Marco Savarese @MarcoSavareseIT]

Finally online: https://t.co/U3RE5r4Rts Thanks: Matteo Marcello, @vivy_cetra, @UddLab

[BjarneUddLab @UddLab]

Grateful to @SuomenAkatemia for funding our research on #titinopathies for the next four years 🥳🍾 #titin #skeletalmuscle @FolkhalsanRC @HelsinkiUniMed @helsinkiuni

[BjarneUddLab @UddLab]

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

[BjarneUddLab @UddLab]

Prof. Kevin P Campbell from @uiowa served as the honourable opponent. We really thank Kevin for a wonderful discussion 🙌🏻

[BjarneUddLab @UddLab]

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

[BjarneUddLab @UddLab]

Our new article is available now: Dominant Distal Myopathy 3 (MPD3) Caused by a Deletion in the HNRNPA1 Gene https://t.co/mXSgcy8npq

[Marco Savarese @MarcoSavareseIT]

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

[BjarneUddLab @UddLab]

Exciting summer meeting of the Udd lab. Looking forward to an interesting year of scientific discoveries 👩🏼‍🔬🔬👨🏻‍🔬

[Marco Savarese @MarcoSavareseIT]

Our new article is now available: Out-of-Frame Mutations in ACTN2 Last Exon Cause a Dominant Distal Myopathy With Facial Weakness https://t.co/cqHhs0ynNW

[BjarneUddLab @UddLab]

Our new publication is finally online. Many thanks to our collaborators for this effort 🎊

[BjarneUddLab @UddLab]

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: https://t.co/ODncqo8mPu
#bmhsem #viikkimon @helsinkiuni @amchelsinki

[BjarneUddLab @UddLab]

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: https://t.co/ODncqo8mPu
#bmhsem #viikkimon @amchelsinki @helsinkiuni
More info: https://t.co/uc11r4EjaL

[Solve-RD @Solve_RD]

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.
👉 https://t.co/EfkOR8TogB

@euro_nmd

[BjarneUddLab @UddLab]

Please watch on demand poster talk nr. 1089 on a novel distal myopathy phenotype #ASHG20
If you have any questions do contact us 🙂

[Marco Savarese @MarcoSavareseIT]

Amazing presentation by @mriduljohari at #ASHG20 #ASHG2020... a novel gene causing distal myopathy! #latenightscience

[BjarneUddLab @UddLab]

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