Trepo - Selaus tekijän mukaan "Udd, Bjarne"
Viitteet 1-20 / 40
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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 ... -
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 ... -
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 ... -
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)
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, ... -
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 ... -
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 ... -
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 ... -
Mitokondriaalinen resessiivinen ataksiasyndrooma ja valproaattihoidon toksisuus
(2010)
articleMitokondriaalinen resessiivinen ataksiasyndrooma (MIRAS) voi ilmetä lapsuus-, nuoruus- tai aikuisiällä. Tauti johtuu polymeraasi gamma -geenin mutaatioista. Oireisto vaihtelee lasten enkefaliitin tyyppisestä akuutista ...
