Results 81 to 90 of about 1,995 (205)
General Anesthesia for a Patient with Myopathy: a case report [PDF]
Kosin Medical Journal, 2020 GNE, or bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase, myopathy presents with symptoms of foot drop, followed by lower and upper extremity muscle weaknesses and sparing of the quadriceps.
Christine Kang +3 more
doaj +1 more source
Different Lower Limb Muscle MRI Patterns in Autosomal Dominant Titinopathies
European Journal of Neurology, Volume 32, Issue 10, October 2025.ABSTRACT Background and Purpose Titin is critical for sarcomere structure and function, and mutations in this gene cause titinopathies, a group of neuromuscular disorders. Muscle MRI is a key tool for diagnosing and understanding these conditions.
David Gómez‐Andrés +8 more
wiley +1 more source
Identification of biomarkers for GNE myopathy
The FASEB Journal, 2012 GNE‐myopathy is an autosomal recessive disorder characterized by muscle atrophy and weakness, and accumulation of amyloid proteins and rimmed vacuoles in myofibers. This disease is secondary to mutations in the GNE gene, which encodes an essential enzyme in sialic acid biosynthesis. Recently,
May Christine Malicdan +3 more
openaire +1 more source
Targeting GNE myopathy: A dual prodrug approach for the delivery of N-acetylmannosamine 6-phosphate [PDF]
, 2019 ProTides comprise an important class of prodrugs currently marketed and developed as antiviral and anticancer therapies. The ProTide technology employs phosphate masking groups capable of providing more favorable druglike properties and an intracellular ...
Avigliano, Marialuce +9 more
core +2 more sources
Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases
Annals of Clinical and Translational Neurology, Volume 12, Issue 7, Page 1465-1479, July 2025.ABSTRACT Objective Approximately half of patients with hereditary myopathies remain without a definitive genetic diagnosis after DNA next‐generation sequencing (NGS). Here, we implemented transcriptome analysis of muscle biopsies as a complementary diagnostic tool for patients with muscle disease but no definitive genetic diagnosis after exome ...
Alba Segarra‐Casas +24 more
wiley +1 more source
Role of IGF-1R in ameliorating apoptosis of GNE deficient cells
Scientific Reports, 2018 Sialic acids (SAs) are nine carbon acidic amino sugars, found at the outermost termini of glycoconjugates performing various physiological and pathological functions.
Reema Singh +2 more
doaj +1 more source
Myo‐Guide: A Machine Learning‐Based Web Application for Neuromuscular Disease Diagnosis With MRI
Journal of Cachexia, Sarcopenia and Muscle, Volume 16, Issue 3, June 2025.ABSTRACT Background Neuromuscular diseases (NMDs) are rare disorders characterized by progressive muscle fibre loss, leading to replacement by fibrotic and fatty tissue, muscle weakness and disability. Early diagnosis is critical for therapeutic decisions, care planning and genetic counselling.
Jose Verdu‐Diaz +58 more
wiley +1 more source
GNE Myopathy in Turkish Sisters with a Novel Homozygous Mutation
Case Reports in Neurological Medicine, 2016 Background. Hereditary inclusion body myopathy is caused by biallelic defects in the GNE gene located on chromosome 9p13. It generally affects adults older than 20 years of age. Methods and Results.
Gulden Diniz +7 more
doaj +1 more source
Unfolded protein response and activated degradative pathways regulation in GNE myopathy.
PLoS ONE, 2013 Although intracellular beta amyloid (Aβ) accumulation is known as an early upstream event in the degenerative course of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) myopathy, the process by which Aβdeposits initiate various ...
Honghao Li +8 more
doaj +1 more source
Gene therapy for genetic diseases: challenges and future directions
MedComm, Volume 6, Issue 2, February 2025.The graphical abstract provides an overview of gene therapy approaches, detailing the components of the therapy and the various delivery routes. Both in vivo and ex vivo strategies facilitate the implementation of gene replacement, gene suppression, gene supplementation, and gene editing.
Beibei Qie +4 more
wiley +1 more source