Results 81 to 90 of about 12,185,784 (244)

Bi‐ and Mono‐Allelic RFC1 Expansion in a North American Cohort With Idiopathic Axonal Neuropathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective RFC1 biallelic repeat expansion is increasingly recognized as a cause of chronic idiopathic axonal polyneuropathy (CIAP), but it remains challenging to know who to test. This study aims to determine the prevalence of biallelic and monoallelic RFC1 expansions and their corresponding neuropathy phenotypes in CIAP patients and identify ...
Amro M. Stino, Lavanya Muthukumar, Evan L. Reynolds, Peter Todd, Sinem Ovunc, Sheng Chih Jin, Zitian Tang, Simone Thomas, PNRR Study Group, Ahmet Höke, Brian C. Callaghan, Sarah Berth, Vinay Chaudhry, David Cornblath, Leana Doherty, Lindsey Hayes, Hristelina Ilieva, Thomas Lloyd, Mohammad Khoshnoodi, Brett McCray, Brett Morrison, Bipasha Mukherjee‐Clavin, Lyle Ostrow, Michael Polydefkis, Ricardo Roda, Charlotte Sumner   +25 more
wiley   +1 more source

Association between serum uric acid, hyperuricemia and low muscle mass in middle-aged and elderly adults: A national health and nutrition examination study.

PLoS ONE
BackgroundsRecent research suggests that uric acid, as a metabolite with antioxidant properties, may affect muscle function and health. However, the association between serum uric acid (SUA) and low muscle mass remains relatively obscure.
Laixi Kong, Yaqin Li, Rong Zhu, Maoting Guo, Yuqing Wu, Yuxin Zhong, Zhe Li, Zhenzhen Xiong   +7 more
doaj   +1 more source

Effects of inactivity on human muscle glutathione synthesis by a double-tracer and single-biopsy approach [PDF]

, 2010
Oxidative stress is often associated to inactivity-mediated skeletal muscle atrophy. Glutathione is one of the major antioxidant systems stimulated, both at muscular and systemic level, by activation of oxidative processes.
DALLA LIBERA L, Francesco Agostini, Biolo, Gianni, JURDANA M, Mihaela Jurdana, Sara Mazzucco, BIOLO G., Agostini, Francesco, Jörn Rittweger, Mazzucco, Sara, Jurdana, Mihaela, Luciano Dalla Libera, Narici, Marco, Gianni Biolo, Dalla Libera, Luciano, NARICI M, MEKJAVIC IB, Rittweger, Jörn, AGOSTINI F, Igor B. Mekjavic, Pisot, Rado, PISOT R, Mekjavic, Igor, MAZZUCCO S, Gorza, Luisa, Rado Pišot, RITTWEGER J, Marco Narici, Luisa Gorza, Gorza L   +29 more
core   +1 more source

Digital Cognitive Testing in Mitochondrial Disease: Validity and Challenges for Clinical Trial Use

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Primary mitochondrial disease is a group of genetic disorders caused by pathogenic variants in nuclear or mitochondrial DNA, often resulting in progressive neurodegeneration and cognitive decline. Current management is primarily supportive, though recent research offers hope for disease‐modifying treatments in the future.
Oksana Pogoryelova, Jan Smeitink, Herma Renkema, Rosabeth White, Frankie Barton, Rachel Lyon, Jane Newman, Aye Moe, Yi Shiau Ng, Grainne Siobhan Gorman   +9 more
wiley   +1 more source

Composite dietary antioxidant index is nonlinearly associated with low muscle mass in the general US population: findings from NHANES 2001–2018

Nutrition Journal
Background Oxidative stress is a risk factor for the development of low muscle mass. The Composite Dietary Antioxidant Index (CDAI) is a recently developed tool for comprehensively assessing dietary antioxidant exposure.
Miaohong Wang, Huan Shi
doaj   +1 more source

Characterizing Cutaneous α‐Synuclein Deposition and Seeding Activity in Parkinson's Disease Subtypes

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Cutaneous phosphorylated α‐synuclein (p‐syn) and α‐synuclein seeding activity are promising biomarkers for Parkinson's disease (PD), but their clinical value remains uncertain due to disease heterogeneity. This study evaluates these two biomarkers in PD patients to inform phenotype‐specific diagnosis and disease severity assessment ...
Yuting Jin, Tianyuan Yang, Minglei Liu, Haiyang Luo, Jing Yuan, Ke Zhang, Xinsheng Han, Jing Yang, Yuming Xu   +8 more
wiley   +1 more source

Muscle Health and Prognosis in Patients With Cancer: New Insights

Journal of Cachexia, Sarcopenia and Muscle
Background Reduced muscle mass and impaired composition have each been independently associated with worse outcomes in patients with cancer. However, emerging evidence suggests that reduced muscle strength—namely, dynapenia—may be particularly important ...
Emanuele Cereda, Amanda Casirati, Maria Cristina Gonzalez, Nilian Carla Souza, Carla M. Prado, Katherine L. Ford, Silvia Fernandes Mauricio, Maria Isabel Toulson Davisson Correia, Paolo Pedrazzoli, Riccardo Caccialanza   +9 more
doaj   +1 more source

Are adult physiques geometrically similar? The dangers of allometric scaling using body mass power laws. [PDF]

, 2004
Human physique classification by somatotype assumes that adult humans are geometric similar to each other. However, this assumption has yet to be adequately tested in athletic and nonexercising human populations.
Stewart, Arthur D., Nevill, AM, Holder, Roger, Stewart, AD, Holder, Roger L., Olds, T, Nevill, Alan M., Olds, Tim, Roger Holder, Nevill, A., Stewart, A., Holder, R., Alan M. Nevill, Tim Olds, Arthur D. Stewart, Olds, T.S.   +15 more
core   +1 more source

Changes in Immune‐Inflammation Status and Prognosis in Pregnancy‐Related Cerebral Venous Thrombosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Distinguishing pathological changes from physiological adaptations in pregnancy‐related cerebral venous thrombosis (CVT) is clinically challenging. This study aimed to characterize coagulation, immune‐inflammation, and dehydration status in these patients and assess their prognostic value.
Xiaoming Zhang, Zilin Xu, Ran Duan, Chunxiao Lu, Da Zhou, Chen Zhou, Ran Meng, Xunming Ji   +7 more
wiley   +1 more source

A comparative proteomics approach to studying skeletal muscle mitochondria from myostatin knockout mice [PDF]

, 2006
Myostatin is a negative regulator of muscle growth. When it is not present or non-functional double-muscling occurs, the primary characteristic of this phenotype being an increase in muscle mass.
Puddick, Jonathan
core