Results 81 to 90 of about 444,467 (232)

Melas Syndrome

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

Genetic Etiologies of Dystonia with Anarthria/Aphonia

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Dystonia with anarthria and/or aphonia (DAnAp) represents a distinctive phenotype manifesting across lifespan. Frequently associated with genetic disorders, early recognition is critical for diagnosis and management. Objectives To provide practical recommendations for the clinical evaluation of patients with DAnAp, enhancing ...
Anika Ménétrey, Eriberto Rayco, Maziar Emamikhah Abarghouei, Susan H. Fox, Anthony E. Lang, George M. Ibrahim, Carolina Gorodetsky, Christos Ganos   +7 more
wiley   +1 more source

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

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

Atrial cardiomyopathy

ESC Heart Failure, Volume 12, Issue 2, Page 727-729, April 2025.
Wojciech Kosmala, Monika Przewłocka‐Kosmala   +1 more
wiley   +1 more source

Repurposing antimicrobial agents for neuroprotection: Mechanisms, clinical potential, and challenges

Neuroprotection, EarlyView.
Antimicrobial agents exert neuroprotective effects through modulation of interconnected pathways. Tetracyclines, macrolides, antimalarial agents, sulfones, and antiparasitic agents suppress neuroinflammation, oxidative stress, and apoptosis while preserving mitochondrial function and neurotransmission.
Mohammad Amin Manavi, Mohammadreza Salehi, Razieh Mohammad Jafari, Ramin Goudarzi, Saman Khosravi, Ahmad Reza Dehpour   +5 more
wiley   +1 more source

Incretin‐Based Therapies: A Testable Hypothesis Linking Incretin Signaling, Mitochondrial Redox, and OXPHOS Efficiency

Obesity, EarlyView.
ABSTRACT Objective Incretin‐based obesity therapies (IBTs), especially GLP‐1 receptor agonists (GLP‐1 RAs), effectively treat obesity and improve comorbidities. However, their impact on energy metabolism is unclear. A recent case of acute generalized muscle weakness in a patient with mitochondrial myopathy after tirzepatide exposure raises concerns ...
Bryn Falahee, Caroline M. Apovian, Nawfal Istfan   +2 more
wiley   +1 more source

Chronic intestinal pseudoobstruction and ophthalmoplegia in a patient with mitochondrial myopathy [PDF]

, 1988
A 38 year old woman having chronic intestinal pseudoobstruction associated with mitochondrial myopathy is reported. The clinical and radiographic features suggested the diagnosis of chronic intestinal pseudoobstruction.
Blesa González, Rafael, Coll, J., Cervera i Segura, Ricard, 1960-, Bruix Tudó, Jordi, Illa Sendra, Isabel, Bayés Rusiñol, Àngels, García Pugés, Antonio Manuel   +6 more
core   +1 more source

Muscle fatigue in patients with severe long COVID: A 2‐year follow‐up study

PM&R, EarlyView.
Abstract Background Fatigue is recognized as one of the most persistent and debilitating symptoms of long COVID, affecting both functionality and quality of life. However, its long‐term effects, especially beyond the first year after infection, remain poorly understood.
Isabella da Silva Almeida, Leandro Gomes de Jesus Ferreira, Marco Aurélio Vaz, Rochelle Rocha Costa, Nicolas Babault, Rita de Cássia Marqueti, João Luiz Quagliotti Durigan   +6 more
wiley   +1 more source

Radial outer retina reflectivity (RORR) sign in LAMP2‐associated retinopathy

Acta Ophthalmologica, EarlyView.
Abstract Purpose To describe the radial outer retina reflectivity (RORR) sign in patients carrying pathogenic variants in the X‐linked lysosome‐associated membrane protein‐2 (LAMP2) gene and to review the histologic characteristics of LAMP2 expression in the human retina.
Rachael C. Heath Jeffery, Bohdan Kousal, Ulrike Grünert, Christine A. Curcio, Svetlana Cherepanoff, Tina M. Lamey, Michel Michaelides, Chrysanthi Tsika, Isabelle Chow, Omar A. Mahroo, Seungmin Lee, Martin Meliska, Milos Kubanek, Jakub Sikora, Siying Lin, Raymond C. B. Wong, Petra Liskova, Fred K. Chen   +17 more
wiley   +1 more source