Results 111 to 120 of about 26,737 (207)
Annals of Clinical and Translational Neurology, Volume 13, Issue 11, Page 2375-2381, November 2026.ABSTRACT Multisystemic smooth muscle dysfunction syndrome (MSMDS) is an ultra‐rare, ACTA2‐related disorder characterized by severe cerebrovascular disease, aortic aneurysms, and smooth muscle dysfunction. Using molecular dynamics simulations and in silico drug screening, we identified that sapropterin dihydrochloride (Kuvan) is a candidate capable of ...
Moran Hausman‐Kedem +9 more
wiley +1 more source
Treatment of a patient with severe lactic acidosis and multiple organ failure due to mitochondrial myopathy: A case report. [PDF]
World J Clin Cases, 2023 Chen L +6 more
europepmc +1 more source
Advanced Science, Volume 13, Issue 62, 9 November 2026.Glucocorticoids transcriptionally activate LCN2 expression via GR nuclear translocation. Secreted LCN2 binds MMP9 to degrade skeletal muscle ECM collagen, blocks integrin‐mediated mechanotransduction, bidirectionally disrupts muscle protein homeostasis, and reveals a novel target for steroid‐induced muscle atrophy.
Hongwei Shi +11 more
wiley +1 more source
Expanding the Utility of Exome Sequencing in Preventive and Population Genetics
American Journal of Medical Genetics Part A, Volume 200, Issue 11, Page 2433-2442, November 2026.ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas +6 more
wiley +1 more source
A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature
American Journal of Medical Genetics Part A, Volume 200, Issue 11, Page 2409-2419, November 2026.ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco +6 more
wiley +1 more source
Revisiting Inherited Metabolic Diseases (IMDs) Through the Lens of Selective Autophagy
Journal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.ABSTRACT Selective autophagy is increasingly recognized as a fundamental quality‐control mechanism that complements bulk autophagy by enabling the targeted degradation of specific intracellular cargos, including mitochondria, endoplasmic reticulum (ER), lipid droplets, glycogen, peroxisomes, ferritin, ribosomes, and protein aggregates.
Marianna Maddaluno +3 more
wiley +1 more source
JIMD Reports, Volume 67, Issue 6, November 2026.ABSTRACT Newborn screening (NBS) has significantly improved early detection and survival in fatty acid oxidation disorders (FAODs). However, the expanding phenotypic spectrum challenges prognostic stratification, and long‐term morbidity remains incompletely characterized.
Elena Martín‐Hernández +10 more
wiley +1 more source
Unexplained dyspnea linked to mitochondrial myopathy following military deployment to Southwest Asia and Afghanistan. [PDF]
Physiol Rep, 2023 Onofrei CD +6 more
europepmc +1 more source
JIMD Reports, Volume 67, Issue 6, November 2026.ABSTRACT Late‐onset Pompe disease (LOPD), also known as late‐onset glycogen storage disease Type II, is caused by a genetic deficiency of the lysosomal enzyme acid α‐glucosidase (GAA). LOPD typically results in progressive weakness of the limb‐girdle and respiratory muscles and is often accompanied by the involvement of other systems, such as skeleton,
Hang Su +31 more
wiley +1 more source
Muscle &Nerve, Volume 74, Issue 5, Page 1421-1428, November 2026.ABSTRACT Introduction/Aims Children and adolescents with neuromuscular diseases often demonstrate muscle weakness and mobility limitations, which may increase perceived exertion during functional tasks. The OMNI scale was developed to assess perceived exertion in pediatric populations; however, its measurement properties in neuromuscular conditions ...
Juliana Cardoso +4 more
wiley +1 more source