Results 61 to 70 of about 444,467 (232)
A SPONTANEOUS MOUSE MODEL OF X-LINKED MYOPATHY WITH EXCESSIVE AUTOPHAGY [PDF]
, 2011 the subject of the thesis research project, aims to characterize a murine model for spontaneous muscle pathology comparable to human "X-Linked Vacuolar myopathy with Excessive Autophagy (XMEA)".
Iovane, Valentina
core +1 more source
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 +5 more
doaj +1 more source
Secretopathies emerge as a new class of neurocristopathies
Developmental Dynamics, EarlyView.Abstract Neural crest cells are a transient embryonic population of cells that give rise to a wide range of structures, including craniofacial cartilage and bone, peripheral neurons and glia, as well as components of the cardiac outflow tract, among others.
Amanda Teixeira +3 more
wiley +1 more source
Effective treatment of mitochondrial myopathy by nicotinamide riboside, a vitamin B3
EMBO Molecular Medicine, 2014 Nutrient availability is the major regulator of life and reproduction, and a complex cellular signaling network has evolved to adapt organisms to fasting.
Nahid A Khan +10 more
doaj +1 more source
Developmental Dynamics, EarlyView.Abstract Background Elp1, a subunit of the Elongator complex, is essential for tRNA modification and neuronal development. Mutations in ELP1 underlie familial dysautonomia (FD), a disorder marked by sensory and autonomic neuropathy. While loss of Elp1 disrupts trigeminal ganglion formation and survival, the downstream molecular consequences remain ...
Carrie E. Leonard +3 more
wiley +1 more source
Role of selenium in the pathophysiology of cardiorenal anaemia syndrome
ESC Heart Failure, Volume 12, Issue 2, Page 770-780, April 2025.Abstract Chronic kidney disease (CKD) and cardiovascular disease (CVD) have multiple bidirectional mechanisms, and anaemia is one of the critical factors that are associated with the progression of the two disorders [referred to as cardiorenal anaemia syndrome (CRAS)].
Shigeyuki Arai +2 more
wiley +1 more source
Mitochondrial Myopathy and Hypotonia
Pediatric Neurology Briefs, 1992 Three children with hypotonia, cardiac impairment, and defects of the mitochondrial respiratory chain complexes, but no ragged red fibers, are reported from the Hopital de la Timone, Chemin de l’Armee, d’Afrique, Marseille, France.
J Gordon Millichap
doaj +1 more source
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 +2 more
wiley +1 more source
Mitochondrial Myopathy with DNA Depletion
, 1992 Five children with mitochondrial myopathy associated with depletion of muscle mtDNA are reported from the Departments of Neurology and Genetics and Development, Columbia University College of Physicians and Surgeons, New York, NY and other centers in ...
J Gordon Millichap, Millichap, J. Gordon
core +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