“Rimmed vacuole myopathy” sparing the quadriceps

1984/04/01 by Z. Argov, Zohar Argov, R. Yarom · 270 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #Anatomy #Biology #Cardiomyopathy and Myosin Studies #Cellular transport and secretion #Deltoid curve #Genetics #Medicine #Myopathy #Pathology #Skin and Cellular Biology Research #Vacuole #Weakness

paper · doi:10.1016/0022-510x(84)90053-4

published in Journal of the Neurological Sciences 64(1), 33-43 (Elsevier BV)

openalex publication_date 1984/04/01 · openalex created_date 2016/06/24 · openalex updated_date 2026/07/29

Cited by

• Non‐specific accumulation of glycosphingolipids in GNE myopathy
• Defining 'Asia' - refashioning of the Australian curriculum
• Genetics of inclusion‐body myositis
• Clinical delineation and localization to chromosome 9p13.3-p12 of a unique dominant disorder in four families: hereditary inclusion body myopathy, Paget disease of bone, and frontotemporal dementia. [europepmc]
• The hereditary inclusion body myopathy enigma and its future therapy. [europepmc]
• Hereditary inclusion body myopathy: a decade of progress. [europepmc]
• Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE. [europepmc]
• Cell stress molecules in the skeletal muscle of GNE myopathy. [europepmc]
• UDP-GlcNAc 2-Epimerase/ManNAc Kinase (GNE): A Master Regulator of Sialic Acid Synthesis. [europepmc]
• Non-specific accumulation of glycosphingolipids in GNE myopathy. [europepmc]
• GNE myopathy: new name and new mutation nomenclature. [europepmc]
• Mutation update for GNE gene variants associated with GNE myopathy. [europepmc]
• Distal myopathies. [europepmc]
• Sialylation of Thomsen-Friedenreich antigen is a noninvasive blood-based biomarker for GNE myopathy. [europepmc]
• Atypical presentation of GNE myopathy with asymmetric hand weakness. [europepmc]
• Nationwide patient registry for GNE myopathy in Japan. [europepmc]
• Patient reported outcomes in GNE myopathy: incorporating a valid assessment of physical function in a rare disease. [europepmc]
• Quantification of lectin fluorescence in GNE myopathy muscle biopsies. [europepmc]
• GNE myopathy: from clinics and genetics to pathology and research strategies. [europepmc]
• GNE Myopathy: Etiology, Diagnosis, and Therapeutic Challenges. [europepmc]
• Exploration of the Sialic Acid World. [europepmc]
• Skeletal Muscle Magnetic Resonance Biomarkers in GNE Myopathy. [europepmc]
• Panorama of the distal myopathies. [europepmc]
• Myogenesis defects in a patient-derived iPSC model of hereditary GNE myopathy. [europepmc]
• GNE myopathy: History, etiology, and treatment trials. [europepmc]
• Genetic and Clinical Spectrum of GNE Myopathy in Russia. [europepmc]
• Efficacy confirmation study of aceneuramic acid administration for GNE myopathy in Japan. [europepmc]
• The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12. [europepmc]