"Udd, Bjarne" - Selaus tekijän mukaan TUNICRIS-julkaisut
Viitteet 1-20 / 33
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Adult-onset dominant muscular dystrophy in Greek families caused by Annexin A11
(2022)
articleObjective: Mutations in the prion-like domain of RNA binding proteins cause dysfunctional stress responses and associated aggregate pathology in patients with neurogenic and myopathic phenotypes. Recently, mutations in ... -
Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis
(12 / 2023)
articleBackground: The diagnosis of patients with mutations in the VCP gene can be complicated due to their broad phenotypic spectrum including myopathy, motor neuron disease and peripheral neuropathy. Muscle MRI guides the ... -
Autosomal dominant tibial muscular dystrophy in Estonia
(05.12.2025)
articleAim: Tibial muscular dystrophy (TMD; MIM#600334, ORPHA:609) is an adult-onset, slowly progressive distal myopathy resulting from dominant variants in exon 364 of the TTN gene. The Finnish founder variant (FINmaj), characterized ... -
Biallelic Variants in the DARS2 Gene as a Novel Cause of Axonal Charcot–Marie–Tooth Disease
(15.08.2025)
articleObjective: Charcot–Marie–Tooth (CMT) disease is a heterogeneous group of genetic neuropathies, with >90 genes identified. Several aminoacyl-tRNA synthetases have been linked to CMT. DARS2, encoding the mitochondrial ... -
C-terminal extension of HSPB6 in a family with myopathy and cataract
(26.02.2025)
articleThe small heat shock protein HSPB6 (a.k.a. Hsp20) is highly expressed in striated and smooth muscles. It modulates the oligomerization of its paralogs HSPB1 and CRYAB (HSPB5) and is involved e.g. in cytoskeletal regulation ... -
CACNA1S Variant Associated With a Myalgic Myopathy Phenotype
(2023)
articleBACKGROUND AND OBJECTIVES: This study aimed to characterize the phenotype of a novel myalgic myopathy encountered in a Finnish family. METHODS: Four symptomatic and 3 asymptomatic individuals from 2 generations underwent ... -
Characterization of novel CASQ1 variants in two families with unusual phenotypic features
(2025)
articleBackground: Variants in CASQ1, encoding a calcium-binding protein in the fast-twitch fibers of skeletal muscle, cause sarcoplasmic reticulum aberrations such as large vacuoles with CASQ1 inclusions or, less commonly, tubular ... -
A comprehensive framework for the interpretation of TTN missense variants
(26.02.2026)
articleBACKGROUND: Missense variants in TTN pose a major challenge in genetic diagnostics due to their high frequency in the general population, the large size of the gene, and the complex multidomain architecture of the titin ... -
Comprehensive transcriptomic analysis shows disturbed calcium homeostasis and deregulation of T lymphocyte apoptosis in inclusion body myositis
(2022)
articleObjective: Inclusion body myositis (IBM) has an unclear molecular etiology exhibiting both characteristic inflammatory T-cell activity and rimmed-vacuolar degeneration of muscle fibers. Using in-depth gene expression and ... -
Current advance on distal myopathy genetics
(10 / 2024)
reviewarticlePurpose of review Distal myopathies are a clinically heterogenous group of rare, genetic muscle diseases, that present with weakness in hands and/or feet at onset. Some of these diseases remain accentuated in the distal ... -
Different Lower Limb Muscle MRI Patterns in Autosomal Dominant Titinopathies
(10 / 2025)
articleBackground and Purpose: Titin is critical for sarcomere structure and function, and mutations in this gene cause titinopathies, a group of neuromuscular disorders. Muscle MRI is a key tool for diagnosing and understanding ... -
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy
(03 / 2024)
articleIn digenic inheritance, pathogenic variants in two genes must be inherited together to cause disease. Only very few examples of digenic inheritance have been described in the neuromuscular disease field. Here we show that ... -
Dominant Distal Myopathy 3 (MPD3) Caused by a Deletion in the HNRNPA1 Gene
(2021)
article<p>Background and Objectives To determine the genetic cause of the disease in the previously reported family with adult-onset autosomal dominant distal myopathy (myopathy, distal, 3; MPD3). Methods Continued clinical ... -
Extension of the DNAJB2a isoform in a dominant neuromyopathy family
(2023)
articleRecessive mutations in the DNAJB2 gene, encoding the J-domain co-chaperones DNAJB2a and DNAJB2b, have previously been reported as the genetic cause of progressive peripheral neuropathies, rarely involving pyramidal signs, ... -
Homozygosity of a Founder Variant c.1508dupC in DOK7 Causes Congenital Myasthenia With Variable Severity
(07.05.2024)
articleBackground and Objectives Description of 15 patients with the same variant in DOK7 causing congenital myasthenic syndrome (CMS).MethodsNine adult and 6 pediatric patients were studied with molecular genetic and clinical ... -
HSPB8 frameshift mutant aggregates weaken chaperone-assisted selective autophagy in neuromyopathies
(02 / 2023)
articleChaperone-assisted selective autophagy (CASA) is a highly selective pathway for the disposal of misfolding and aggregating proteins. In muscle, CASA assures muscle integrity by favoring the turnover of structural components ... -
Inferring disease course from differential exon usage in the wide titinopathy spectrum
(2024)
articleObjective: Biallelic titin truncating variants (TTNtv) have been associated with a wide phenotypic spectrum, ranging from complex prenatal muscle diseases with dysmorphic features to adult-onset limb-girdle muscular ... -
Is Gene-Size an Issue for the Diagnosis of Skeletal Muscle Disorders?
(2020)
articleHuman genes have a variable length. Those having a coding sequence of extraordinary length and a high number of exons were almost impossible to sequence using the traditional Sanger-based gene-by-gene approach. High-throughput ... -
Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions
(2021)
article<p>Using deep phenotyping and high-throughput sequencing, we have identified a novel type of distal myopathy caused by mutations in the Small muscle protein X-linked (SMPX) gene. Four different missense mutations ... -
Multi-omics analysis in inclusion body myositis identifies mir-16 responsible for HLA overexpression
(12 / 2025)
articleBackground: Inclusion Body Myositis is an acquired muscle disease. Its pathogenesis is unclear due to the co-existence of inflammation, muscle degeneration and mitochondrial dysfunction. We aimed to provide a more advanced ...
