Results 131 to 140 of about 28,319 (230)

Distal Myopathy [PDF]

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

Out-of-Frame Mutations in <i>ACTN2</i> Last Exon Cause a Dominant Distal Myopathy With Facial Weakness. [PDF]

Neurol Genet, 2021
Savarese M, Vihola A, Jokela ME, Huovinen SP, Gerevini S, Torella A, Johari M, Scarlato M, Jonson PH, Onore ME, Hackman P, Gautel M, Nigro V, Previtali SC, Udd B.   +14 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  

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

KRITIKUS ÁLLAPOTOKKAL ÖSSZEFÜGGÔ NEUROMUSCULARIS ZAVAROK – FIGYELJÜNK RÁ! [PDF]

, 2014
A szepszishez és egyéb súlyos, kritikus állapotokhoz társuló neuromuscularis tünetek nem ritka és újonnan felismert jelenségek, ennek ellenére a mindennapos klinikai gyakorlatban kevés jelentőséget tulajdonítanak nekik.
Berhés, Mariann, Fekete, Klára, Fülep, Zoltán, Fülesdi, Béla, Molnár, Levente, Nemes, Réka   +5 more
core  

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

Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions. [PDF]

Acta Neuropathol, 2021
Johari M, Sarparanta J, Vihola A, Jonson PH, Savarese M, Jokela M, Torella A, Piluso G, Said E, Vella N, Cauchi M, Magot A, Magri F, Mauri E, Kornblum C, Reimann J, Stojkovic T, Romero NB, Luque H, Huovinen S, Lahermo P, Donner K, Comi GP, Nigro V, Hackman P, Udd B.   +25 more
europepmc   +1 more source

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

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