Results 51 to 60 of about 51,102 (238)

Galaxy chemical evolution models: The role of molecular gas formation [PDF]

open access: yes, 2017
In our classical grid of multiphase chemical evolution models, star formation in the disc occurs in two steps: first, molecular gas forms, and then stars are created by cloud-cloud collisions or interactions of massive stars with the surrounding ...
Ascasibar, Yago   +4 more
core   +2 more sources

GNE Myopathy With Novel Mutations and Pronounced Paraspinal Muscle Atrophy

open access: yesFrontiers in Neurology, 2018
GNE myopathy is characterized by distal muscle weakness, and caused by recessive mutations in GNE. Its onset is characteristically in young adulthood, although a broad spectrum of onset age is known to exist.
Tyler Soule   +7 more
doaj   +1 more source

Myogenesis defects in a patient-derived iPSC model of hereditary GNE myopathy

open access: yesnpj Regenerative Medicine, 2022
Hereditary muscle diseases are disabling disorders lacking effective treatments. UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE) myopathy (GNEM) is an autosomal recessive distal myopathy with rimmed vacuoles typically manifesting in ...
Rebecca E. Schmitt   +8 more
doaj   +1 more source

GNE‐317 Reverses MSN‐Mediated Proneural‐to‐Mesenchymal Transition and Suppresses Chemoradiotherapy Resistance in Glioblastoma via PI3K/mTOR

open access: yesAdvancement of science
Glioblastoma (GBM) resistance to chemoradiotherapy is a major factor contributing to poor treatment outcomes. This resistance markedly affects the effectiveness of surgery combined with chemoradiotherapy and leads to post‐surgical tumor recurrence ...
Yong-Chang Yang   +15 more
semanticscholar   +1 more source

Phase II/III Study of Aceneuramic Acid Administration for GNE Myopathy in Japan

open access: yesJournal of Neuromuscular Diseases, 2023
Background: GNE myopathy is an ultra-rare muscle disease characterized by a reduction in the synthesis of sialic acid derived from pathogenic variants in the GNE gene. No treatment has been established so far.
N. Suzuki   +17 more
semanticscholar   +1 more source

Electromagnetic Form Factors of the Nucleon [PDF]

open access: yes, 1997
We reanalyze the world data on the electromagnetic form factors of the nucleon. The calculations are performed in the framework of an algebraic model of the nucleon combined with vector meson dominance.Comment: 5 pages with 6 figures and aipproc.sty file,
Bijker, R., Leviatan, A.
core   +2 more sources

Pharmacokinetics and clinical efficacy of 6'-sialyllactose in patients with GNE myopathy: Randomized pilot trial.

open access: yesBiomedicine & pharmacotherapy = Biomedecine & pharmacotherapie, 2023
GNE myopathy, caused by biallelic mutations in the GNE gene, is characterized by initial ankle dorsiflexor weakness and rimmed vacuoles in the muscle histopathology, resulting in reduced sialic acid production.
Young-Eun Park   +8 more
semanticscholar   +1 more source

Metformin protects fibroblasts from patients with GNE myopathy by restoring autophagic flux via an AMPK/mTOR-independent pathway.

open access: yesBiomedicine & pharmacotherapy = Biomedecine & pharmacotherapie, 2023
UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) myopathy is an autosomal recessive disease characterized by rimmed vacuoles (RVs). Previous studies have shown that metformin protects against several neuromuscular disorders.
Tongtong Zhang   +5 more
semanticscholar   +1 more source

Efficacy confirmation study of aceneuramic acid administration for GNE myopathy in Japan

open access: yesOrphanet Journal of Rare Diseases, 2023
Background A rare muscle disease, GNE myopathy is caused by mutations in the GNE gene involved in sialic acid biosynthesis. Our recent phase II/III study has indicated that oral administration of aceneuramic acid to patients slows disease progression ...
M. Mori-Yoshimura   +17 more
semanticscholar   +1 more source

Dust in the diffuse emission of the galactic plane - The Herschel/Spitzer SED fitting [PDF]

open access: yes, 2010
The first Herschel Hi-Gal images of the galactic plane unveil the far-infrared diffuse emission of the interstellar medium with an unprecedented angular resolution and sensitivity. In this paper, we present the first analysis of these data in combination
Compiègne   +7 more
core   +2 more sources

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