Results 141 to 150 of about 44,988 (276)

Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia [PDF]

, 2013
Lisa G. Riley, Minal Menezes, Joëlle Rudinger‐Thirion, Rachael M. Duff, Pascale de Lonlay, Agnès Rötig, Michel Tchan, Mark R. Davis, Sandra T. Cooper, John Christodoulou   +9 more
openalex   +1 more source

The Role of Oxidative Stress in Periodontitis

Journal of Periodontal Research, EarlyView.
Oxidative stress is involved in multiple chemical reactions that take place in different intracellular organelles: mitochondria, rough endoplasmic reticulum, peroxisomes, autophagy, and aging, and can be influenced by exogenous factors: nutrition, physical activity, psychological status, environmental conditions, microbiome, and drugs.
Pedro Bullon, Francesca Giampieri, Beatriz Bullon, Maurizio Battino   +3 more
wiley   +1 more source

Data related to article "Homozygous mutations in C1QBP as cause of progressive external ophthalmoplegia (PEO) and mitochondrial myopathy with multiple mtDNA deletions"

, 2021
Daniele Ghezzi, Andrea Legati
openalex   +1 more source

Defective respiratory capacity and mitochondrial protein synthesis in transformant cybrids harboring the tRNA(Leu(UUR)) mutation associated with maternally inherited myopathy and cardiomyopathy. [PDF]

, 1994
Caterina Mariotti, Valeria Tiranti, F. Carrara, Bruno Dallapiccola, Stefano DiDonato, Massimo Zeviani   +5 more
openalex   +1 more source

Mitophagy in skeletal muscle: Impact of ageing, exercise and disuse

Experimental Physiology, EarlyView.
Abstract Skeletal muscle plays an important role in whole‐body health, quality of life and regulation of metabolism. The maintenance of a healthy mitochondrial pool is imperative for the preservation of skeletal muscle quality and is mediated through mitochondrial quality control consisting of mitochondrial turnover mediated by a balance between ...
Anastasiya Kuznyetsova, David A. Hood
wiley   +1 more source

Diagnostic Value of Muscle Biopsy for the Evaluation of Adult Myopathy in Daily Clinical Practice

Diagnostics
Background/Objectives: Muscle biopsy is traditionally considered a cornerstone in the diagnosis of myopathies. Advances in the clinical and laboratory evaluation of myopathies warrant re-evaluation of the diagnostic yield.
Vera E. A. Kleinveld, Julia Wanschitz, Anna Hotter, Johannes A. Mayr, Romana Höftberger, Wolfgang N. Löscher, Corinne G. C. Horlings   +6 more
doaj   +1 more source

Patent foramen ovale leading to mismanagement in a mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes patient. [PDF]

Clin Case Rep, 2023
Salari M, Etemadifar M, Rashedi R, Rashedi R.   +3 more
europepmc   +1 more source

Diagnosis and Treatment of Mitochondrial Myopathies [PDF]

, 2018
Syeda Ahmed, Lyndsey Craven, Oliver M. Russell, Douglass M. Turnbull, Amy E. Vincent   +4 more
openalex   +1 more source

When rehabilitation is not enough, how targeting metabolism can overcome the limited plasticity of skeletal muscle after traumatic injury

Experimental Physiology, EarlyView.
Abstract There is a category of large‐scale neuromusculoskeletal injuries that result in long‐term functional disabilities, and one such injury is volumetric muscle loss (VML) injury. In addition to the clinical outcomes related to long‐term dysfunction, co‐morbidities and reduced mobility and physical activity, this review addresses several ...
Sarah M. Greising, Jarrod A. Call
wiley   +1 more source

Treatment of a patient with severe lactic acidosis and multiple organ failure due to mitochondrial myopathy: A case report. [PDF]

World J Clin Cases, 2023
Chen L, Shuai TK, Gao YW, Li M, Fang PZ, Christian W, Liu LP.   +6 more
europepmc   +1 more source