Results 121 to 130 of about 44,988 (276)
Prenatal Diagnosis, EarlyView.ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa +7 more
wiley +1 more source
Mitochondrial Myopathy and Congenital Cataract
Pediatric Neurology Briefs, 1993 The autosomal recessive syndrome characterized by mitochondrial myopathy of cardiac and skeletal muscle, congenital cataract and lactic acidosis is described in two forms following a retrospective study of 16 patients at the University of Nijmegen, The ...
J Gordon Millichap
doaj +1 more source
Effects of aerobic training on exercise-related oxidative stress in mitochondrial myopathies [PDF]
, 2012 Gabriele Siciliano +5 more
openalex +1 more source
CRPPA exon 6–9 deletion as a founder mutation in Chinese patients with dystroglycanopathy
Pediatric Investigation, EarlyView.Analysis of sixteen Chinese dystroglycanopathy patients reveals a founder mutation (CRPPA exon 6–9 deletion) in 25% of cases and expands the phenotypic spectrum from severe muscle‐eye‐brain disease to limb‐girdle muscular dystrophy. ABSTRACT Importance Dystroglycanopathies (DGPs) are a group of muscular dystrophies with abnormal glycosylation of ...
Jihang Luo +18 more
wiley +1 more source
Interactions of mitochondrial and skeletal muscle biology in mitochondrial myopathy. [PDF]
Biochem J, 2023 Di Leo V +2 more
europepmc +1 more source
PGC-1a in muscle links metabolism to inflammation [PDF]
, 2009 1. In higher eukaryotes, metabolism and immunity are tightly coupled. However, whereas in evolutionary terms, a compromised immune response due to undernourishment has been the predominant problem, the inflammatory response to obesity and other life ...
Handschin, C.
core
Proteomic Profiling of Myofiber Repair Annexins and Their Role in Duchenne Muscular Dystrophy
PROTEOMICS, EarlyView.ABSTRACT Myofiber regeneration and membrane repair play crucial roles in maintaining the continuous physiological functioning of the neuromuscular system. A swift and efficient repair mechanism enables the rapid restoration of sarcolemmal integrity following cellular impairment in damaged skeletal muscles.
Paul Dowling +6 more
wiley +1 more source
Cardiac disease in systemic sclerosis: Integrating pathobiology with clinical management
Rheumatology &Autoimmunity, EarlyView.Abstract Systemic sclerosis (SSc) is a complex autoimmune disorder in which cardiovascular involvement remains a major determinant of morbidity and mortality. Cardiac injury in SSc results from the interplay of microvascular dysfunction, immune‐mediated inflammation, and progressive interstitial and replacement fibrosis, leading to myocardial disease ...
Henry Sutanto, Betty Rachma, Yuliasih
wiley +1 more source
Characteristics of metabolic myopathies among Egyptian patients
The Egyptian Journal of Neurology, Psychiatry and NeurosurgeryBackground Metabolic Myopathies are characterized by defect in muscle energy production. The main symptoms are exercise intolerance, fatigue, myalgias, rhabdomyolysis and \or weakness, they present with episodic or fixed manifestations.
Mennat-Allah M. Elgamal +4 more
doaj +1 more source
Autosomal Recessive Mitochondrial Myopathy due to MICU-1 Variants. [PDF]
Ann Indian Acad Neurol, 2023 Finsterer J.
europepmc +1 more source