Results 81 to 90 of about 1,023,457 (221)

SEQUENCE VARIANTS IN THE RYR1 GENE AND GENETIC DISEASES: MALIGNANT HYPERTHERMIA AND CONGENITAL MYOPATHIES [PDF]

, 2009
This PhD thesis has been focused on the identification and functional characterization of sequence variants in the RYR1 gene, associated with Malignant hyperthermia (MH) and some congenital myopathies (CMs).
Perrotta, Giuseppa
core   +1 more source

Commonalities of platelet dysfunction in heart failure with preserved ejection fraction and underlying comorbidities

ESC Heart Failure, Volume 12, Issue 2, Page 1013-1028, April 2025.
Abstract Heart failure with preserved ejection fraction (HFpEF) is characterized by a lack of a specific targeted treatment and a complex, partially unexplored pathophysiology. Common comorbidities associated with HFpEF are hypertension, atrial fibrillation, obesity and diabetes.
Giorgia D'Italia, Blanche Schroen, Judith M.E.M. Cosemans   +2 more
wiley   +1 more source

Improving the Sensitivity in Chiral Analysis by Capillary Electrophoresis

ELECTROPHORESIS, EarlyView.
Most recent advances for the enhancement of sensitivity in capillary electrophoresis, including off‐line and in‐capillary preconcentration techniques and their combinations, and the use of alternative detection systems to UV–Vis spectrophotometric absorption.
María Castro‐Puyana, Sandra Salido‐Fortuna, María Luisa Marina   +2 more
wiley   +1 more source

Comparing the efficacy of cipaglucosidase alfa plus miglustat with alglucosidase alfa for late-onset Pompe disease: an expanded network meta-analysis utilizing patient-level and aggregate data

Journal of Comparative Effectiveness Research
Aim: Treatment options for late-onset Pompe disease (LOPD) include enzyme replacement therapy (ERT) with alglucosidase alfa (alg), cipaglucosidase alfa plus miglustat (cipa + mig) and avalglucosidase alfa. However, only one randomized controlled trial (
Shuai Fu, Noemi Hummel, Simon Shohet, Neil Johnson, Alasdair MacCulloch, Jeff Castelli, William Kerr, Brian Fox, Vera Gielen   +8 more
doaj   +1 more source

Impact of pharmacogenetics on statin-induced myopathy in South-Indian subjects

Indian Heart Journal, 2018
Objectives: Statins are the most commonly prescribed medications for the treatment of atherosclerotic cardiovascular disease. Statin-associated adverse effects occur in ∼10% of patients and are associated with polymorphisms in several key genes coding ...
Nuthalapati Ramakumari, Bobbala Indumathi, Shiva Krishna Katkam, Vijay Kumar Kutala   +3 more
doaj   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Uncovering cardiac molecular remodelling in racing Thoroughbreds with paroxysmal atrial fibrillation

Equine Veterinary Journal, EarlyView.
Abstract Background Atrial fibrillation (AF) is the most common arrhythmia in both humans and horses, with a comparable prevalence of ~2%. In horses, AF is a major cause of poor athletic performance and linked to sudden cardiac death, yet its underlying molecular mechanisms remain poorly understood.
Charlotte E. Edling, Magdalena Arevalo‐Turrubiarte, Carla Moller‐Levet, Bronte Forbes, Victoria Kemp, Joe Weir, Gary Tse, Celia Marr, Rebecca Lewis, Kamalan Jeevaratnam   +9 more
wiley   +1 more source

Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD): Clinical Features, Diagnostic Challenges, and the Role of Oxidative Stress in Pathophysiology

Antioxidants
Introduction. Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) is an autosomal recessive metabolic disorder resulting from mutations in the genes that encode the electron transfer flavoprotein (ETF) or its associated dehydrogenase (ETFDH), resulting in ...
Dario Zoppi, Anna Russo, Francesca Vallefuoco, Martina De Maria, Gabriella Esposito, Tiziana Fioretti, Valeria Maiolo, Filippo Maria Santorelli, Rosa Iodice, Stefano Tozza, Raffaele Dubbioso, Fiore Manganelli, Lucia Ruggiero   +12 more
doaj   +1 more source

Proteomics of Cytochrome c Oxidase-Negative versus -Positive Muscle Fiber Sections in Mitochondrial Myopathy

Cell Reports, 2019
Summary: The mosaic distribution of cytochrome c oxidase+ (COX+) and COX− muscle fibers in mitochondrial disorders allows the sampling of fibers with compensated and decompensated mitochondrial function from the same individual.
Marta Murgia, Jing Tan, Philipp E. Geyer, Sophia Doll, Matthias Mann, Thomas Klopstock   +5 more
doaj   +1 more source

Identification of Metabolic Signature Associated with Idiopathic Inflammatory Myopathy Reveals Polyamine Pathway Alteration in Muscle Tissue

, 2022
Idiopathic inflammatory myopathy (IIM) is hard to diagnose without a muscle biopsy. We aimed to identify a metabolite panel for IIM detection by metabolomics approach in serum samples and to explore the metabolomic signature in tissue samples from a ...
Kim, Seon Uk, Youjin Jung, Kim, Jeong Yeon, Jeong Yeon Kim, Cho, Joo-Youn, Seon Uk Kim, Eun Young Lee, Kang, Jihyun, Jung, Youjin, Lee, Eun Young, Jihyun Kang, Joo-Youn Cho   +11 more
core   +1 more source