Results 41 to 50 of about 327 (126)
Small, Volume 15, Issue 46, November 13, 2019., 2019 The experimental observation of large transport gap of 0.8 eV in ≈6 nm wide suspended graphene nanoribbon (GNR) functional devices fabricated by a helium ion milling technique is presented. The antiferromagnetic coupling between opposite edges in the zigzag GNRs and the enhanced electron–electron interaction due to the reduced dielectric screening in ...
Marek E. Schmidt +7 more
wiley +1 more source
Lysosomal Acid Lipase Deficiency: Report of Five Cases across the Age Spectrum
Case Reports in Pediatrics, Volume 2018, Issue 1, 2018., 2018 Lysosomal acid lipase (LAL) deficiency is an autosomal recessive lysosomal storage disorder caused by mutations in the LIPA gene that leads to premature organ damage and mortality. We present retrospective data from medical records of 5 Brazilian patients, showing the broad clinical spectrum of the disease.
Marco Antonio Curiati +5 more
wiley +1 more source
GNE Myopathy in Turkish Sisters with a Novel Homozygous Mutation
Case Reports in Neurological Medicine, Volume 2016, Issue 1, 2016., 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. In this study, we present two Turkish sisters with progressive myopathy and describe a novel mutation in the GNE gene.
Gulden Diniz +8 more
wiley +1 more source
Aquaporin-4 expression in distal myopathy with rimmed vacuoles
BMC Neurology, 2012 Background Distal myopathy with rimmed vacuoles/hereditary inclusion body myopathy is clinically characterized by the early involvement of distal leg muscles. The striking pathological features of the myopathy are muscle fibers with rimmed vacuoles.
Hoshi Akihiko +5 more
doaj +1 more source
Regulation of physiological and pathological condensates by molecular chaperones
The FEBS Journal, Volume 292, Issue 13, Page 3271-3297, July 2025.Mounting evidence suggests that stress granules (SGs), dynamic membraneless compartments involved in cellular stress responses, can transition into pathological condensates upon improper disassembly. This review discusses the evidence supporting this notion.
Nadeen Akaree +5 more
wiley +1 more source
PLoS ONE, 2015 Mutations in the valosin containing protein (VCP) gene cause hereditary Inclusion body myopathy (hIBM) associated with Paget disease of bone (PDB), frontotemporal dementia (FTD), more recently termed multisystem proteinopathy (MSP).
Angèle Nalbandian +4 more
doaj +1 more source
Havacılık ve Uzay Teknolojileri Dergisi, 2014 Finding the position of signal sources has been effectively used by military systems including targeting, positioning, orbiting primarily, as well as in civil applications such as detecting mine sources, observing the natural environment.
Bora Temizel +2 more
doaj
Editorial for the Genetics of Muscular Dystrophies from the Pathogenesis to Gene Therapy Special Issue. [PDF]
Genes (Basel), 2023 Politano L, Santorelli FM.
europepmc +1 more source
Inclusion body myositis: from genetics to clinical trials. [PDF]
J Neurol, 2023 Nagy S, Khan A, Machado PM, Houlden H.
europepmc +1 more source
Myosin Myopathy Presenting as Chronic Progressive External Ophthalmoplegia. [PDF]
Ann Indian Acad Neurol, 2023 Maniyar AMH +5 more
europepmc +1 more source