Results 71 to 80 of about 1,995 (205)
Die C57BL/6 GNE+/-Maus als Modell für die hereditäre Einschlusskörpermyopathie Typ 2 (h-IBM2) [PDF]
, 2016 Die folgende Arbeit befasst sich mit der Fragestellung, ob das von Schwarzkopf et al. generierte GNE+/- Mausmodell ein Modell für die Einschlusskörpermyopathie (GNE Myoptahie) darstellen kann.
Großmann, Mona
core +1 more source
GNE Myopathy with Prominent Axial Muscle Involvement. [PDF]
J Clin Neurol, 2018 Park JM, Shin JH, Park JS.
europepmc +3 more sources
Metabolism‐Regulating Nanomedicines for Cancer Therapy
Advanced NanoBiomed Research, Volume 6, Issue 1, January 2026.This review highlights metabolism‐regulating nanomedicines designed to target glycolytic, lipid, amino acid, and nucleotide pathways in tumors. By incorporating metabolism‐regulating agents into versatile nanocarriers such as liposomes, micelles, dendrimers, and engineered bacteria, these platforms achieve targeted delivery, controlled release ...
Xiao Wu, Shiyi Geng, Jian Yang
wiley +1 more source
Panchakarma Based Therapeutic Interventions in GNE Myopathy- Insights Through A Case Study [PDF]
GNE myopathy is a rare autosomal recessive muscular disorder characterized by progressive skeletal muscle atrophy, primarily due to mutations in the GNE gene.
Shakuntala S Pujeri +1 more
core +2 more sources
Clinical Characteristics and Molecular Genetic Analysis of Korean Patients with GNE Myopathy [PDF]
, 2013 PURPOSE: Glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase (GNE) myopathy is an autosomal recessive neuromuscular disorder characterized by early adult-onset weakness of the distal muscles of the lower limbs.
박형준, 신하영, 최영철
core +1 more source
Molecular Genetics &Genomic Medicine, Volume 14, Issue 1, January 2026.This study reports a rare case of bone marrow failure syndrome type 1 (BMFS1) caused by a novel de novo splicing mutation (c.1502+1G>A) in the SRP72 gene. The 6‐year‐old patient presented with aplastic anemia and pancytopenia. Genetic analysis identified the mutation, which was absent in both parents, confirming its de novo origin.
Wang Xiangwen +3 more
wiley +1 more source
European Journal of Neurology, Volume 33, Issue 1, January 2026.This study assesses muscle MRI features for the differential diagnosis of patients with distal myopathies and distal hereditary motor neuropathies (dHMNs). A reticular pattern of fat infiltration, together with diffuse and marked involvement of intrinsic foot muscles, emerged as characteristic of dHMNs.
María Payá +14 more
wiley +1 more source
Substantial deficiency of free sialic acid in muscles of patients with GNE myopathy and in a mouse model. [PDF]
PLoS ONE, 2017 GNE myopathy (GNEM), also known as hereditary inclusion body myopathy (HIBM), is a late- onset, progressive myopathy caused by mutations in the GNE gene encoding the enzyme responsible for the first regulated step in the biosynthesis of sialic acid (SA).
Yiumo Michael Chan +7 more
doaj +1 more source
Musculoskeletal Diseases: Mechanisms and Therapeutic Advances
MedComm, Volume 6, Issue 12, December 2025.Musculoskeletal diseases comprise a broad spectrum of inflammatory, degenerative, and neoplastic disorders. Increasing evidence highlights the central role of immune regulation in their pathogenesis, with complex interactions among immune, bone, muscle, and stromal cells.
Xiao Ma +17 more
wiley +1 more source
Atypical presentation of GNE myopathy with asymmetric hand weakness [PDF]
Neuromuscular Disorders, 2014 GNE myopathy is a rare autosomal recessive muscle disease caused by mutations in GNE, the gene encoding the rate-limiting enzyme in sialic acid biosynthesis. GNE myopathy usually manifests in early adulthood with distal myopathy that progresses slowly and symmetrically, first involving distal muscles of the lower extremities, followed by proximal ...
John Karl L. de Dios +13 more
openaire +2 more sources