Results 131 to 140 of about 51,102 (238)

GNE миопатия: проспективно клинично проучване на прогресията на мускулната слаБост и серумните нива на креатинкиназа

Българска неврология, 2021
GNE миопатия е наследствено невромускулно заболяване, което протича с прогресираща слабост в дисталните отдели на долни крайници, а в последствие ангажира и проксималните мускули на ръцете и краката и води до загуба на самостоятелната походка.
Kristina Kastreva, T. Chamova, K. Chobanov, T. Dimitrova, I. Tournev   +4 more
doaj  

Overlapping phenotype of GNE myopathy and dystrophinopathy: a rare case with dual variants from India

Journal of Rare Diseases
Purpose Distal myopathies are rare neuromuscular disorders, among which GNE myopathay (also known as Nonaka myopathy) results from autosomal recessive mutations in the GNE [glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase] gene, while ...
Tamali Halder, Deepika Joshi, Parimal Das   +2 more
doaj   +1 more source

Distributed Charging Strategy of PEVs in SCS with Feeder Constraints Based on Generalized Nash Equilibria

Axioms
In this article, a distributed charging strategy problem for plug-in electric vehicles (PEVs) with feeder constraints based on generalized Nash equilibria (GNE) in a novel smart charging station (SCS) is investigated.
Jialong Tang, Huaqing Li, Menggang Chen, Yawei Shi, Lifeng Zheng, Huiwei Wang   +5 more
doaj   +1 more source

GNE myopathy [PDF]

, 2020
openaire   +1 more source

Novel GNE mutations in three Chinese patients and #8232;with typical GNE myopathy

Journal of the Pakistan Medical Association, 2020
Rui Ban, Xianghui Lu, Chuanqiang Pu, Qiang Shi, Huifang Wang, Huaxu Liu, Yutong Zhang   +6 more
openaire   +1 more source

Alternative Dosing Strategies to Enhance the Absorption of N-Acetyl-D-Mannosamine Monohydrate (ManNAc) in Healthy Adult Males. [PDF]

Clin Drug Investig
Meola TR, La Fontaine K, Condon J, Wabnitz P, Fornasini G, Evans AM, Reuter SE.   +6 more
europepmc   +1 more source

Subclinical Respiratory Muscle Weakness and Obstructive Sleep Apnea are Common in Glucosamine-UDP-N-acetyl-2-epimerase / N-acetylmannosamine kinase (GNE) Myopathy. [PDF]

Ann Indian Acad Neurol
Kiyan E, Pihtili A, Durmus H, Parman Y.
europepmc   +1 more source

Quantitative analysis of inhibitor-induced assembly disruption in human UDP-GlcNAc 2-epimerase using mass photometry. [PDF]

Protein Sci
Boback N, López JG, Hackenberger CPR, Di Lella S, Lauster DC.   +4 more
europepmc   +1 more source

Neural architecture search using network embedding and generative adversarial networks. [PDF]

Sci Rep
Yousefi M, Mehrdad V, Dowlatshahi MB.
europepmc   +1 more source

Muscle MRI Contributes to the Differential Diagnosis Between Distal Myopathies and Distal Hereditary Motor Neuropathies. [PDF]

Eur J Neurol
Payá M, Portela S, Sivera R, Frasquet M, Más-Estellés F, Martí P, Azorín I, Aragon-Gawinska K, Tárrega M, Argente-Escrig H, Vázquez-Costa JF, Vilchez R, Vilchez JJ, Sevilla T, Muelas N.   +14 more
europepmc   +1 more source