Results 61 to 70 of about 988,052 (165)

History of study on metabolic myopathy

Chinese Journal of Contemporary Neurology and Neurosurgery, 2014
The developmental history of metabolic myopathy is reviewed both chronologically and from different classifications. Searching the specific biomarkers of different metabolic myopathies, and specific diagnostic and therapeutic measures targeting these ...
Jian YIN, Shi-fang HOU, Cui-di WANG, Hong GUO, Xian-hao XU   +4 more
doaj  

Metabolic myopathies:a practical approach

, 2017
Metabolic myopathies are a diverse group of rare genetic disorders and their associated muscle symptoms may be subtle. Patients may present with indolent myopathic features, exercise intolerance or recurrent rhabdomyolysis.
Sharma, Reena, Reena Sharma, Keh, Yann Shern, Lilleker, James B; id_orcid, Mark Roberts, James B Lilleker, Federico Roncaroli, Yann Shern Keh, Roberts, Mark, Roncaroli, Federico; id_orcid   +9 more
core   +1 more source

Relevance of muscle biopsies in the neonatal and early infantile period: a 52 years retrospective study in the gene-sequencing era

Acta Neuropathologica Communications
Neuromuscular disorders (NMD) with neonatal or early infantile onset are usually severe and differ in symptoms, complications, and treatment options.
Mai Thao Bui, Gorka Fernández-Eulate, Teresinha Evangelista, Emmanuelle Lacène, Guy Brochier, Clémence Labasse, Angéline Madelaine, Anaïs Chanut, Maud Beuvin, Favienne Borsato-Levy, Valérie Biancalana, Giulia Barcia, Pascale De Lonlay, Jocelyn Laporte, Johann Böhm, Norma Beatriz Romero   +15 more
doaj   +1 more source

Targeted Therapies for Metabolic Myopathies Related to Glycogen Storage and Lipid Metabolism: a Systematic Review and Steps Towards a 'Treatabolome'. [PDF]

J Neuromuscul Dis, 2021
Manta A, Spendiff S, Lochmüller H, Thompson R.   +3 more
europepmc   +1 more source

Iatrogenic myopathies

, 2010
Purpose of review: This review summarizes the recent progress in understanding of myopathies induced by therapeutic agents, the underlying pathogenetic mechanisms and the management of iatrogenic muscle disorders, focussing on statin-associated ...
Mastaglia, F.L., Frank L Mastaglia
core   +1 more source

Differential expression of miRNAs associated with pectoral myopathies in young broilers: insights from a comparative transcriptome analysis

BMC Genomics
Introduction White Striping (WS) and Wooden Breast (WB) pectoral myopathies are relevant disorders for contemporary broiler production worldwide. Several studies aimed to elucidate the genetic components associated with the occurrence of these myopathies.
Mariane Spudeit Dal Pizzol, Adriana Mércia Guaratini Ibelli, Maurício Egídio Cantão, Francelly Geralda Campos, Haniel Cedraz de Oliveira, Jane de Oliveira Peixoto, Lana Teixeira Fernandes, Fernando de Castro Tavernari, Marcos Antônio Zanella Morés, Ana Paula Almeida Bastos, Mônica Corrêa Ledur   +10 more
doaj   +1 more source

Editorial: Strategies to Fight Exercise Intolerance in Neuromuscular Disorders

Frontiers in Physiology, 2020
Francesca Lanfranconi, Mauro Marzorati, Lucio Tremolizzo   +2 more
doaj   +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

Transcriptomic Profiles of Pectoralis major Muscles Affected by Spaghetti Meat and Woody Breast in Broiler Chickens

Animals
Spaghetti meat (SM) and woody breast (WB) are breast muscle myopathies of broiler chickens, characterized by separation of myofibers and by fibrosis, respectively. This study sought to investigate the transcriptomic profiles of breast muscles affected by
Sunoh Che, Phuc H. Pham, Shai Barbut, Dorothee Bienzle, Leonardo Susta   +4 more
doaj   +1 more source

Tafazzin-deficient zebrafish display mitochondrial dysfunction, neutropenia, and metabolic defects without myopathy

Scientific Reports
Barth syndrome is an X-linked syndrome characterized by cardiomyopathy, skeletal myopathy, and neutropenia. This life-threatening disorder results from loss-of-function mutations in TAFAZZIN, which encodes a phospholipid-lysophospholipid transacylase ...
Usua Oyarbide, Rebecca A. Anderson, Igor Radzikh, Jillian V. Kodger, Akshay S. Patil, Morgan Staton, Anny Mulya, Genevieve M. Crane, Silvio Litovsky, Yana Sandlers, Seth J. Corey   +10 more
doaj   +1 more source