"Udd, Bjarne" - Selaus tekijän mukaan TUNICRIS-julkaisut
Viitteet 1-20 / 21
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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 ... -
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 ... -
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)
reviewPurpose 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 ... -
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)
articleBackground 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 evaluation ... -
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
(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 ... -
Kaitsijamutaatiot neuromuskulaaritaudeissa
(2021)
articleKaitsijaproteiinien eli kaperonien ja kokaperonien geenivirheet aiheuttavat neuromuskulaaritauteja vaihtelevilla mekanismeilla. Peittyvästi periytyvät taudit liittyvät tyypillisesti kaitsijaproteiinin toiminnan puutokseen, ... -
Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions
(2021)
articleUsing 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 were identified ... -
Panorama of the distal myopathies
(2020)
articleDistal myopathies are genetic primary muscle disorders with a prominent weakness at onset in hands and/or feet. The age of onset (from early childhood to adulthood), the distribution of muscle weakness (upper versus lower ... -
Protein-extending ACTN2 frameshift variants cause variable myopathy phenotypes by protein aggregation
(2024)
articleObjective: The objective of the study is to characterize the pathomechanisms underlying actininopathies. Distal myopathies are a group of rare, inherited muscular disorders characterized by progressive loss of muscle fibers ... -
A recurrent ACTA1 amino acid change in mosaic form causes milder asymmetric myopathy
(01 / 2024)
articleWe describe three patients with asymmetric congenital myopathy without definite nemaline bodies and one patient with severe nemaline myopathy. In all four patients, the phenotype had been caused by pathogenic missense ... -
A retrospective study of accuracy and usefulness of electrophysiological exercise tests
(04 / 2024)
articleOBJECTIVES: This study aimed to determine the usefulness of electrophysiological exercise tests. The significance of slightly abnormal exercise tests was also examined. METHODS: We identified all the patients who had ... -
Revealing myopathy spectrum : integrating transcriptional and clinical features of human skeletal muscles with varying health conditions
(2024)
articleMyopathy refers to a large group of heterogeneous, rare muscle diseases. Bulk RNA-sequencing has been utilized for the diagnosis and research of these diseases for many years. However, the existing valuable sequencing data ...
