Results 61 to 70 of about 16,852 (152)

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

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

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

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

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

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

Adult-onset distal myopathy with predominant hand involvement as a rare phenotype of plectinopathy. [PDF]

J Neuromuscul Dis
Llansó L, Reyes-Leiva D, Segarra-Casas A, Xuclà-Ferrarons T, Gallardo E, Blanco R, Gallano P, Olivé M, González-Quereda L.   +8 more
europepmc   +1 more source

Case of ? Distal Myopathy [PDF]

Proceedings of the Royal Society of Medicine, 1926
openaire   +2 more sources

Current advance on distal myopathy genetics. [PDF]

Curr Opin Neurol
Ranta-Aho J, Johari M, Udd B.
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