Trepo - Selaus tekijän mukaan "Udd, Bjarne"
Viitteet 1-20 / 56
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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 ... -
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 ... -
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 ... -
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 ... -
Diagnostically important muscle pathology in DNAJB6 mutated LGMD1D
(2016)
articleLimb girdle muscular dystrophies are a large group of both dominantly and recessively inherited muscle diseases. LGMD1D is caused by mutated DNAJB6 and the molecular pathogenesis is mediated by defective chaperonal function ... -
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 ... -
Distinct Muscle Biopsy Findings in Genetically Defined Adult-Onset Motor Neuron Disorders
(2016)
articleThe objective of this study was to characterize and compare muscle histopathological findings in 3 different genetic motor neuron disorders. We retrospectively re-assessed muscle biopsy findings in 23 patients with autosomal ... -
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, ... -
Gene Expression Profiling in Tibial Muscular Dystrophy Reveals Unfolded Protein Response and Altered Autophagy
(2014)
articleTibial muscular dystrophy (TMD) is a late onset, autosomal dominant distal myopathy that results from mutations in the two last domains of titin. The cascade of molecular events leading from the causative Titin mutations ...
