Results 61 to 70 of about 990 (176)
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
Effect of Crossing C57BL/6 and FVB Mouse Strains on Basal Cytokine Expression
Mediators of Inflammation, Volume 2015, Issue 1, 2015., 2015 C57BL/6 is the most often used laboratory mouse strain. However, sometimes it is beneficial to cross the transgenic mice on the C57BL/6 background to the other strain, such as FVB. Although this is a common strategy, the influence of crossing these different strains on homeostatic expression of cytokines is not known.
Agata Szade +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
Phase structure of the two-fluid proton-neutron system
, 2004 The phase structure of a two-fluid bosonic system is investigated. The proton-neutron interacting boson model (IBM-2) posesses a rich phase structure involving three control parameters and multiple order parameters.
A. Bohr +4 more
core +1 more source
Sporadic inclusion body myositis: an unsolved mystery [PDF]
, 2009 Sporadic inclusion body myositis (sIBM) is considered to be the most common acquired muscle disease associated with aging. It is a disabling disorder still without effective treatment.
Hanna, M +3 more
core
Triaxiality and the determination of the cubic shape parameter K3 from five observables
, 2004 The absolute and the relative quadrupole shape invariants q3 and K3 provide a model independent measure of triaxiality for beta-rigid nuclei. We will show that one can obtain q3 and K3 from a small number of observables. The approximations which are made
A. Bohr +6 more
core +1 more source
Inclusion body myositis: from genetics to clinical trials [PDF]
, 2022 Inclusion body myositis (IBM) belongs to the group of idiopathic inflammatory myopathies and is characterized by a slowly progressive disease course with asymmetric muscle weakness of predominantly the finger flexors and knee extensors. The disease leads
Houlden, Henry +3 more
core
Phase structure of a two-fluid bosonic system
, 2005 The phase diagram of a two-fluid bosonic system is investigated. The proton-neutron interacting boson model (IBM-2) possesses a rich phase structure involving three control parameters and multiple order parameters.
Arias +70 more
core +2 more sources
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