Results 191 to 200 of about 159,117 (304)

Microduplication 10q24.31 in a Spanish girl with scoliosis and myopathy:the critical role of LBX [PDF]

, 2014
Calleja-Perez, Beatriz, Castellanos, Maria Del Carmen, Cigudosa, Juan C., Dietrich, Susanne, Fernandez-Jaen, Alberto, Fernandez-Mayoralas, Daniel Martin, Fernandez-Perrone, Ana Laura, Lopez-Martin, Sara, Suela, Javier, Wotton, Karl R.   +9 more
core   +2 more sources

ER proteostasis meets mitochondrial function: contact sites as hubs of communication and therapeutic targets

The FEBS Journal, EarlyView.
Proteostasis ensures proper protein folding, modification, and degradation, while its impairment triggers ER stress. Chronic ER stress and maladaptive UPR via the CHOP–ERO1 axis remodel ERMCs, altering calcium signaling and mitochondrial metabolism.
Giorgia Maria Renna, Alessandro Cherubini, Ersilia Varone, Serena Germani, Alice Marrazza, Ester Zito   +5 more
wiley   +1 more source

Dysferlinopathies: phenotypic study of a Moroccan series of 28 cases. [PDF]

Acta Myol
Mouloudi N, Kably B, Sefiani S, Birouk N.   +3 more
europepmc   +1 more source

Assessing Correlation of Quantitative Technetium‐99m Sestamibi Uptake in Thyroid Scintigraphy With Treatment Duration in Amiodarone‐Induced Thyrotoxicosis

Journal of Medical Imaging and Radiation Oncology, EarlyView.
Ray Wang, Nathan Better, Dinesh Sivaratnam, James Westcott, Simon Forehan, David A. Pattison, Spiros Fourlanos   +6 more
wiley   +1 more source

Biogenesis of TNF‐α‐insights into proteostasis and inflammation

The FEBS Journal, EarlyView.
TNF‐α biogenesis, trafficking, and signalling are tightly and reciprocally coupled to cellular proteostasis systems, including ER chaperones and endoplasmic reticulum‐associated degradation. This bidirectional crosstalk determines whether TNF‐α responses are adaptive or proteotoxic.
Bailasan Haidar, Céline Philippe, Eric Chevet, Jiří Zahradník   +3 more
wiley   +1 more source

Fatal Cardiomyopathy Secondary to Seronegative Immune-Mediated Necrotizing Myopathy: A Case Report. [PDF]

Am J Case Rep
Lueck BD, Maclean AKW, El Hasbani G, Layman AJ, Ernste FC, Arment CA.   +5 more
europepmc   +1 more source

Bone health in adults with non‐ambulatory neuromuscular disorders: scoping review of risk factors, diagnosis and management

Internal Medicine Journal, EarlyView.
Abstract Background Non‐ambulatory adults have an increased risk of osteoporosis and fractures due to reduced weight‐bearing and diminished neuromuscular stimulation, resulting in substantial morbidity and mortality. Aims This scoping review aimed to systematically evaluate risk factors, diagnostic indicators and management strategies for optimising ...
Thomas Bailey, Carolyn Droste, John A. Eisman, Steven G. Faux, Arnagretta Hunter   +4 more
wiley   +1 more source

Myopathies Associated With Monoclonal Gammopathies of Clinical Significance: A Narrative Review. [PDF]

Cureus
Belkhribchia MR.
europepmc   +1 more source

Statin Therapy for Primary Prevention and Clinical Outcomes in Adults Aged 80 and Older: A Retrospective Comparative Cohort Study

Journal of the American Geriatrics Society, EarlyView.
ABSTRACT Background Evidence supporting the use of statins for primary prevention of cardiovascular disease (CVD) in individuals aged ≥ 80 years remains limited. This study aimed to evaluate the long‐term clinical benefits and safety of statins for primary prevention in patients aged 80 years and older.
Ophir Lavon, Wafaa Hamodi, Sameer Kassem
wiley   +1 more source

Autoimmune Myositis Presenting With Fulminant Rhabdomyolysis and Dialysis-Dependent Acute Kidney Injury in the Context of Nitrofurantoin Exposure and Chronic Statin Use: A Case Report. [PDF]

Cureus
Lynn SD, Sone KP, Thein K, Htike ZZ.
europepmc   +1 more source