Results 81 to 90 of about 7,593 (207)
SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights
Annals of Clinical and Translational Neurology, Volume 13, Issue 2, Page 285-295, February 2026.ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas +18 more
wiley +1 more source
Advances in diagnosis and treatment of limb-girdle muscular dystrophy
Chinese Journal of Contemporary Neurology and Neurosurgery, 2017 Limb - girdle muscular dystrophy (LGMD) is a group of disorders caused by gene mutations, with proximal muscle weakness as their main manifestation. Although various subtypes of LGMD share the common feature, heterogenity exist both in clinical phenotype
Meng YU, Zhao-xia WANG
doaj
Kelch proteins: emerging roles in skeletal muscle development and diseases [PDF]
, 2014 Our understanding of genes that cause skeletal muscle disease has increased tremendously over the past three decades. Advances in approaches to genetics and genomics have aided in the identification of new pathogenic mechanisms in rare genetic disorders ...
Beggs, Alan H, Gupta, Vandana A
core +1 more source
Clinical Case Reports, Volume 14, Issue 2, February 2026.ABSTRACT Transient liver steatosis is rarely described. A fast development of liver steatosis leading to acute liver failure (ALF) is, to our knowledge, rarely observed. It is so far observed and published in acute fatty liver of pregnancy, and in a few cases of ALF. However, it is observed in elective surgery for pancreaticoduodenectomy and some cases
Anders Benjamin Kildal +7 more
wiley +1 more source
Use of magnetic resonance imaging in the diagnosis of idiopathic inflammatory myopathies
Современная ревматология, 2019 Idiopathic inflammatory myopathies (IIMs) are a group of autoimmune diseases characterized by cross-striated muscle inflammation accompanied by muscle weakness.
A. N. Khelkovskaya-Sergeeva +3 more
doaj +1 more source
Journal of Cachexia, Sarcopenia and Muscle, Volume 17, Issue 1, February 2026.ABSTRACT Background The diagnosis of inclusion body myositis (IBM) can be delayed because of its heterogeneous clinical presentation and the lack of specific biomarkers. Muscle imaging has gained increasing relevance over the past decade and is now included among the supportive criteria in the international diagnostic guidelines.
Eleonora Torchia +15 more
wiley +1 more source
Statistical Test of Expression Pattern (STEPath): a new strategy to integrate gene expression data with genomic information in individual and meta-analysis studies [PDF]
, 2011 Background In the last decades, microarray technology has spread, leading to a dramatic increase of publicly available datasets. The first statistical tools developed were focused on the identification of significant differentially expressed genes. Later,
Paolo Martini +5 more
core +1 more source
Cardiomyopathies and Arrythmias in Neuromuscular Diseases
CardiogeneticsNeuromuscular diseases (NMDs) encompass various hereditary conditions affecting motor neurons, the neuromuscular junction, and skeletal muscles. These disorders are characterized by progressive muscle weakness and can manifest at different stages of life,
Giuseppe Sgarito +9 more
doaj +1 more source
Orphanet Journal of Rare Diseases, 2019 Background Dystrophin-glycoprotein complex (DGC)-related muscular dystrophies may present similar clinical and pathological features as well as undetectable mutations thus being sometimes difficult to distinguish.
Zhiying Xie +11 more
doaj +1 more source
Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy
Annals of Clinical and Translational NeurologyObjective Limb girdle muscular dystrophies (LGMDs) are a group of genetically heterogeneous autosomal conditions with some degree of phenotypic homogeneity.
Shruthi Mohan +29 more
doaj +1 more source