Bjarne A. Udd
Tampere, Finland
Last Updated: 09/26/2026
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Found 220 publications
Beyond distal arthrogryposis: refining the phenotypic landscape of PIEZO2-related disorders.
Journal: Brain : a journal of neurology
Published: February 10, 2026
Poly(A)+ selection limits detection of long and alternatively spliced transcripts compared with rRNA depletion in RNA-Sequencing.
Journal: BMC genomics
Published: January 07, 2026
Over-Representation of TTN Truncating Variants in a Finnish Cohort of Patients With Axial Myopathy.
Journal: European journal of neurology
Published: October 18, 2025
Optimizing 2D in vitro differentiation conditions for C2C12 murine myoblasts on gelatin hydrogel.
Journal: Journal of muscle research and cell motility
Published: August 04, 2025
Novel missense variants associated with GNE myopathy.
Journal: Neuromuscular disorders : NMD
Published: July 21, 2025
A comprehensive framework for the interpretation of TTN missense variants.
Journal: Genome medicine
Published: July 17, 2025
Missense variants in TUBA4A cause myo-tubulinopathies.
Journal: medRxiv : the preprint server for health sciences
Published: July 16, 2025
Characterization of novel CASQ1 variants in two families with unusual phenotypic features.
Journal: Journal of neurology
Published: July 01, 2025
Missense variants in TUBA4A cause myo-tubulinopathies.
Journal: Brain : a journal of neurology
Published: June 26, 2025
Loss-of-function variants in SPTAN1 and SPTBN4 cause early-onset hereditary myopathy.
Journal: The Journal of physiology
Published: June 17, 2025
Novel Mutations in Titin Exon 363 With Different Phenotypes Including a Founder Mutation in Eastern Europe.
Journal: European journal of neurology
Published: May 02, 2025
Last Updated: 09/26/2026