Results 81 to 90 of about 44,988 (276)

Centronuclear myopathy in labrador retrievers: a recent founder mutation in the PTPLA gene has rapidly disseminated worldwide [PDF]

, 2011
Centronuclear myopathies (CNM) are inherited congenital disorders characterized by an excessive number of internalized nuclei. In humans, CNM results from ~70 mutations in three major genes from the myotubularin, dynamin and amphiphysin families ...
Christophe Hitte, G. Diane Shelton, Geneviève Aubin-Houzelstein, Inès Barthélémy, Jacques Penderis, Jean-Jacques Panthier, Jean-Laurent Thibaud, Jérôme Mary, Laurent Guillaud, Laurent Tiret, Manuel Pelé, Marie Maurer, Marilyn Fender, Natasha Olby, Reiner Albert Veitia, Stéphane Blot, Thomas Bilzer   +16 more
core   +6 more sources

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

Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder [PDF]

, 2015
Background: Mitochondrial disease is often suspected in cases of severe epileptic encephalopathy especially when a complex movement disorder, liver involvement and progressive developmental regression are present.
Collins, Abigail E, Coughlin, Curtis R, II, Creadon-Swindell, Geralyn, Friederich, Marisa W, Geiger, Elizabeth A, Minczuk, Michal, Powell, Christopher A, Scharer, Gunter H, Shaikh, Tamim H, Swanson, Michael A, Van Coster, Rudy, Van Hove, Johan LK, Vanlander, Arnaud, Yu, Hung-Chun   +13 more
core   +2 more sources

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

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

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

Randomized dose-escalation trial of elamipretide in adults with primary mitochondrial myopathy [PDF]

, 2018
Kassandra L. Munger, Alberto Ascherio, E Liotta, S Prabhakaran, R Sangha, M Lopresti, S Bruce, E Camacho, I Anik, H Secer, Y Anik, B Duz, E Gonul, E Liotta, S Prabhakaran, R Sangha, M Maas, M Berman, J Guth, A Naidech, R Bernstein, S Bassin, K Munger, K Hongell, J Aivo, R Tonnesen, P Hovind, L Jensen, P Schwarz, A Hedstrom, M Baarnhielm, T Olsson, L Alfredsson, K Munger, J Aivo, K Hongell, M Stein, Y Liu, O Gray, K Munger, K Hongell, J Aivo, A Ascherio, K Munger, A Hill, L Mokry, S Ross, O Ahmad, B Rhead, M Baarnhielm, M Gianfrancesco, A Karaa, R Haas, A Goldstein   +53 more
openalex   +3 more sources

Mitochondrial neurogastrointestinal encephalomyopathy: approaches to diagnosis and treatment [PDF]

, 2020
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an ultra-rare disease caused by mutations in TYMP, the gene encoding for the enzyme thymidine phosphorylase.
Bax, BE
core   +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

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