"Udd, Bjarne" - Selaus tekijän mukaan TUNICRIS-julkaisut
Viitteet 1-20 / 23
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Adult-onset dominant muscular dystrophy in Greek families caused by Annexin A11
(2022)
article<p>Objective: 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 ... -
Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis
(12 / 2023)
article<p>Background: 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 ... -
CACNA1S Variant Associated With a Myalgic Myopathy Phenotype
(2023)
article<p>BACKGROUND 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 ... -
Comprehensive transcriptomic analysis shows disturbed calcium homeostasis and deregulation of T lymphocyte apoptosis in inclusion body myositis
(2022)
article<p>Objective: 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 ... -
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 ... -
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy
(03 / 2024)
article<p>In 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 ... -
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)
article<p>Recessive 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 ... -
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)
article<p>Chaperone-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 ... -
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)
article<p>Human 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. ... -
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 ... -
Myotilin gene duplication causing late-onset myotilinopathy
(01 / 2025)
articleBackground: myotilinopathy is a very rare inherited muscle disease that belongs to the group of myofibrillar myopathies. These diseases share a common alteration of the sarcomere organization at the level of the Z disk ... -
Novel SCN4A Variants Associated With Myalgic Myotonic Disorder or Paramyotonia
(05 / 2025)
articleBackground: This study aimed to determine the role of five new rare SCN4A variants suspected to cause paramyotonia or myotonic disorder. Methods: Ten patients from seven families underwent clinical, neurophysiological, ... -
OBSCN undergoes extensive alternative splicing during human cardiac and skeletal muscle development
(2025)
articleBackground: Highly expressed in skeletal muscles, the gene Obscurin (i.e. OBSCN) has 121 non-overlapping exons and codes for some of the largest known mRNAs in the human genome. Furthermore, it plays an essential role in ... -
Panorama of the distal myopathies
(2020)
article<p>Distal 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 ... -
Protein-extending ACTN2 frameshift variants cause variable myopathy phenotypes by protein aggregation
(2024)
article<p>Objective: 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 ... -
A recurrent ACTA1 amino acid change in mosaic form causes milder asymmetric myopathy
(01 / 2023)
article<p>We 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 ...
