@UddLab

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

 Helsinki
folkhalsan.fi/en/knowledge/research/genetics/group-udd/
Joined September 2020
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Our mutation update for the ACTN2 gene onlinelibrary.wiley.com/doi/… @UddLab @mriduljohari @FolkhalsanRC

Mutation update for the ACTN2 gene

ACTN2 encodes alpha-actinin-2, a protein expressed in human cardiac and skeletal muscle. The protein, located in the sarcomere Z-disk, functions as a link between the anti-parallel actin filaments....

onlinelibrary.wiley.com
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BjarneUddLab retweeted
Ali Oghabian@gacatag7 Sep 2022
The annual "Summer"! meeting of @UddLab was held at the beautiful #inkalankartano. Nice scientific discussions, planning and of course sauna by the lake. – at Hämeenlinna, Suomi
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Finally online: doi.org/10.1111/jcmm.17533 Thanks: Matteo Marcello, @vivy_cetra, @UddLab

Use of animal models to understand titin physiology and pathology

In recent years, increasing attention has been paid to titin (TTN) and its mutations. Heterozygous TTN truncating variants (TTNtv) increase the risk of a cardiomyopathy. At the same time, TTNtv and...

onlinelibrary.wiley.com
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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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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…

Out-of-Frame Mutations in ACTN2 Last Exon Cause a Dominant Distal Myopathy With Facial Weakness |...

Background and ObjectivesTo clinically, genetically, and histopathologically characterize patients presenting with an unusual combination of distal myopathy and facial weakness, without involvement...

neurology.org
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BjarneUddLab retweeted
Solve-RD@Solve_RD4 Nov 2020
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/fund… @euro_nmd
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Amazing presentation by @mriduljohari at #ASHG20 #ASHG2020... a novel gene causing distal myopathy! #latenightscience
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