Results 91 to 100 of about 42,806 (266)

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

Melas Syndrome

Pediatric Neurology Briefs, 1987
Melas syndrome consists of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke.
J Gordon Millichap
doaj   +1 more source

Induction of the nicotinamide riboside kinase NAD+ salvage pathway in a model of sarcoplasmic reticulum dysfunction

Skeletal Muscle, 2020
Background Hexose-6-Phosphate Dehydrogenase (H6PD) is a generator of NADPH in the Endoplasmic/Sarcoplasmic Reticulum (ER/SR). Interaction of H6PD with 11β-hydroxysteroid dehydrogenase type 1 provides NADPH to support oxo-reduction of inactive to active ...
Craig L. Doig, Agnieszka E. Zielinska, Rachel S. Fletcher, Lucy A. Oakey, Yasir S. Elhassan, Antje Garten, David Cartwright, Silke Heising, Ahmed Alsheri, David G. Watson, Cornelia Prehn, Jerzy Adamski, Daniel A. Tennant, Gareth G. Lavery   +13 more
doaj   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Chronic pneumopathy secondary to swallowing disorder in a patient with mitochondrial myopathy

Iatreia, 2019
Introduction: Chronic lung disease secondary to dysphagia is a frequent complication in patients with neuromuscular diseases. Mitochondrial myopathies could lead to progressive lung damage due to chronic aspiration syndrome. Clinical case: Seven-year-
Palacio Petri, Silvia , Morales Múnera, Olga Lucía , Ortiz Giraldo, Blair   +2 more
doaj   +1 more source

Impaired cardiac and skeletal muscle bioenergetics in children, adolescents, and young adults with Barth syndrome [PDF]

, 2017
Barth syndrome (BTHS) is an X‐linked condition characterized by altered cardiolipin metabolism and cardioskeletal myopathy. We sought to compare cardiac and skeletal muscle bioenergetics in children, adolescents, and young adults with BTHS and unaffected
Altschuld, American College of Sports Medicine, Bahi, Barth, Bashir, Bione, Bissler, Cade, Cade, Chance, Chance, Conway, Edwards, El-Sharkawy, Gomez, Gonzalvez, Hiona, Hom, Hudsmith, Ingwall, Kemp, Kemp, Kemp, Kemp, Kushmerick, Lang, Lanza, Lanza, Larson-Meyer, Layec, Liu, Matthews, Meyer, Meyer, Minotti, Naressi, Nascimben, Neubauer, Powers, Ratel, Roussel, Sapega, Schlame, Sgobbo, Smith, Spencer, Spencer, Spoladore, Takahashi, Taylor, Taylor, Thaveau, Thompson, Tonson, Vanhamme, Wang, Wasserman, Waters, Xu, Yao, Zhang, Zoll   +61 more
core   +2 more sources

Mutations in valosin-containing protein (VCP) decrease ADP/ATP translocation across the mitochondrial membrane and impair energy metabolism in human neurons [PDF]

, 2017
Mutations in the gene encoding valosin-containing protein (VCP) lead to multisystem proteinopathies including frontotemporal dementia. We have previously shown that patient-derived VCP mutant fibroblasts exhibit lower mitochondrial membrane potential ...
Abramov, Andrey Y. Abramov, Angelova, Bartolome, Bobba, Brand, Brown, Charles Arber, Ding, Edri, Elisavet Preza, Eva Carro, Fernando Bartolome, Ganote, Henry Houlden, Imamura, Johnson, Kokoszka, Krauss, Ludtmann, Macarena de Vicente, Marthe H.R. Ludtmann, Meyer, Muqit, Nalbandian, Nalbandian, Nalbandian, Okita, Papkovskaia, Plun-Favreau, Schirris, Selina Wray, Shi, Shi, Sonia Gandhi, Sposito, Vallier, Vieira, Weihl, Weinbach, Weydt, Wray, Yin, Zhivotovsky   +43 more
core   +2 more sources

FOXK2 in skeletal muscle development: a new pathogenic gene for congenital myopathy with ptosis

EMBO Molecular Medicine
Congenital ptosis, a genetic disorder involving levator palpebrae muscle dysfunction, is often associated with congenital myopathy. The genetic causes of this condition remain poorly understood.
Peixuan Wu, Nan Song, Yang Xiang, Zhe Tao, Bing Mao, Ruochen Guo, Xin Wang, Dan Wu, Zhenzhen Zhang, Xin Chen, Duan Ma, Tianyu Zhang, Bingtao Hao, Jing Ma   +13 more
doaj   +1 more source

Impaired muscle mitochondrial energetics is associated with uremic metabolite accumulation in chronic kidney disease

JCI Insight, 2021
Chronic kidney disease (CKD) causes progressive skeletal myopathy involving atrophy, weakness, and fatigue. Mitochondria have been thought to contribute to skeletal myopathy; however, the molecular mechanisms underlying muscle metabolism changes in CKD ...
Trace Thome, Ravi A. Kumar, Sarah K. Burke, Ram B. Khattri, Zachary R. Salyers, Rachel C. Kelley, Madeline D. Coleman, Demetra D. Christou, Russell T. Hepple, Salvatore T. Scali, Leonardo F. Ferreira, Terence E. Ryan   +11 more
doaj   +1 more source

External cephalic version outcomes with tocolysis and sedation: A 10‐year retrospective cohort study

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract Objective To evaluate the effectiveness and safety of external cephalic version (ECV) performed with tocolysis and sedation or spinal anesthesia, and to identify predictors of ECV success, complications, and delivery outcomes after successful ECV. Methods This 10‐year cohort study included 990 pregnant women with term non‐cephalic presentation
Javier Sánchez‐Romero, Rosa María Gallego‐Pozuelo, José Eliseo Blanco‐Carnero, Javier Herrera‐Giménez, Fernando Araico‐Rodríguez, Alberto Rafael Guijarro‐Campillo, Aníbal Nieto‐Díaz, Catalina de Paco‐Matallana   +7 more
wiley   +1 more source