Results 141 to 150 of about 561,973 (252)

A case report of deglutition triggered atrial fibrillation in a patient with Laing distal myopathy. [PDF]

Eur Heart J Case Rep, 2021
Alvarez CK, Swales H, Kluger J.
europepmc   +1 more source

The nurse of the Mediterranean [PDF]

, 2010
During the First World War Malta did not take an active part in the fighting. Britain was joined in an ‘entente’ a friendship agreement with France since 1904 and later with Russia in 1907.
Pisani, Saviour
core  

Distal Myopathy [PDF]

Proceedings of the Royal Society of Medicine, 1913
openaire   +2 more sources

A therapeutic leap: how myosin inhibitors moved from cardiac interventions to skeletal muscle myopathy solutions

The Journal of Clinical Investigation
The myosin inhibitor mavacamten has transformed the management of obstructive hypertrophic cardiomyopathy (HCM) by targeting myosin ATPase activity to mitigate cardiac hypercontractility.
Julius Bogomolovas, Ju Chen
doaj   +1 more source

Analysis of the pathogenicity of novel GNE mutations and clinical, pathological, and genetic characteristics of GNE myopathy in Chinese population

Orphanet Journal of Rare Diseases
Background GNE myopathy is a rare autosomal recessive distal myopathy caused by mutations in UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE), a bifunctional enzyme critical for sialic acid biosynthesis. This study aimed to describe a
Yingming Xing, Lingqian Zhao, Renlong Zhao, Qiyun Liu, Juan Wang, Le Wang, Wei Zhang, Junhong Guo, Rongjuan Zhao, Xueli Chang   +9 more
doaj   +1 more source

Dynamics of T-Cell Intracellular Antigen 1-Dependent Stress Granules in Proteostasis and Welander Distal Myopathy under Oxidative Stress. [PDF]

Cells, 2022
Fernández-Gómez A, Velasco BR, Izquierdo JM.   +2 more
europepmc   +1 more source

PGC-1a in muscle links metabolism to inflammation [PDF]

, 2009
1. In higher eukaryotes, metabolism and immunity are tightly coupled. However, whereas in evolutionary terms, a compromised immune response due to undernourishment has been the predominant problem, the inflammatory response to obesity and other life ...
Handschin, C.
core  

Calpainopathy (Leyden-Mobius Limb-Girdle Muscular Dystrophy Type 2A Phenotype) and Dysferlinopathy (Miyoshi Distal Myopathy Limb-Girdle Muscular Dystrophy Type 2B Phenotype) of Preadolescent Onset: Case Reports of Two Male Filipinos. [PDF]

Cureus, 2022
Quilacio JMS, Rosales RL, Ampil ER.
europepmc   +1 more source

Welander Distal Myopathy-Associated TIA1 E384K Mutation Disrupts Stress Granule Dynamics Under Distinct Stress Conditions. [PDF]

Biology (Basel)
Ramos-Velasco B, Alcalde J, Izquierdo JM.   +2 more
europepmc   +1 more source

ZASP/LDB3-related atypical distal myopathy with subtle cardiac impairment unveiled after COVID-19 infection: a short report. [PDF]

Acta Myol
Gadaleta G, Pidello S, Urbano G, Carli D, Mongini T.   +4 more
europepmc   +1 more source