Trepo - Selaus tekijän mukaan "Udd, Bjarne"
Viitteet 21-40 / 48
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Inferring disease course from differential exon usage in the wide titinopathy spectrum
(2024)
article<p>Objective: 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 were ... -
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 ... -
Myotilin gene duplication causing late-onset myotilinopathy
(01 / 2025)
article<p>Background: 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 compound heterozygous mutation in SACS gene leads to a milder autosomal recessive spastic ataxia of Charlevoix-Saguenay, ARSACS, in a Finnish family
(2016)
articleAutosomal recessive spastic ataxia of Charlevoix-Saguenay is a rare disorder outside Quebec causing childhood-onset cerebellar ataxia, peripheral neuropathy, and pyramidal tract signs. A Finnish family with milder form of ... -
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 versus ... -
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 muscle ... -
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 missense ... -
A retrospective study of accuracy and usefulness of electrophysiological exercise tests
(04 / 2023)
article<p>OBJECTIVES: This study aimed to determine the usefulness of electrophysiological exercise tests. The significance of slightly abnormal exercise tests was also examined.</p><p>METHODS: We identified all the patients who ...
