Results 51 to 60 of about 8,011,267 (345)
PLoS ONE, 2018 Spinal muscular atrophy (SMA) is a monogenic disorder caused by loss of function mutations in the survival motor neuron 1 gene, which results in a broad range of disease severity, from neonatal to adult onset.
A. Chabanon +21 more
semanticscholar +1 more source
Online refinement of day‐ahead forecasting using intraday data for campus‐level load
IET Generation, Transmission & Distribution, 2022 Day‐ahead forecasting for campus‐level load is important for better energy management, but especially difficult to be accurate, compared to large‐scale loads such as cities or regions.
Yuanfan Ji +3 more
doaj +1 more source
Acid ceramidase deficiency: Farber disease and SMA-PME
Orphanet Journal of Rare Diseases, 2018 Acid ceramidase (ACDase) deficiency is a spectrum of disorders that includes a rare lysosomal storage disorder called Farber disease (FD) and a rare epileptic disorder called spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME).
Fabian P. S. Yu +3 more
semanticscholar +1 more source
Journal of Neuromuscular Diseases, 2018 Background: Spinal muscular atrophy (SMA) is a neuromuscular disorder characterized by muscle weakness and muscle atrophy. Nusinersen acts as a splicing modifier and has recently been approved for intrathecal treatment of SMA.
A. Pechmann +14 more
semanticscholar +1 more source
High-Frequency Electromagnetic Induction (HFEMI) Sensor Results from IED Constituent Parts
Remote Sensing, 2019 The detection and classification of subsurface improvised explosive devices (IEDs) remains one of the most pressing military and civilian problems worldwide. These IEDs are often intentionally made with either very small metallic parts or less-conducting
Benjamin Barrowes +3 more
doaj +1 more source
Diagnostic algorithm in combined surgical pathology in patients with diseases of endocrine system
Mìžnarodnij Endokrinologìčnij Žurnal, 2017 Background. Every 2 years, the incidence of endocrine pathology increased by 23–30 %. During the diagnostic search, 25–30 % of patients with endocrine disorders appear to have 2 to 4 combined surgical diseases.
S.M. Zavgorodniy +3 more
doaj +1 more source
FEBS Letters, EarlyView.In vivo IL‐10 produced by tissue‐resident tolDC is involved in maintaining/inducing tolerance. Depending on the agent used for ex vivo tolDC generation, cells acquire common features but prime T cells towards anergy, FOXP3+ Tregs, or Tr1 cells according to the levels of IL‐10 produced. Ex vivo‐induced tolDC were administered to patients to re‐establish/
Konstantina Morali +3 more
wiley +1 more source
Stem Cells Translational Medicine, 2020 The objective of the study was to identify the mechanism of action for a radiation mitigator of the gastrointestinal (GI) acute radiation syndrome (ARS), identified in an unbiased high‐throughput screen.
Sara Duhachek‐Muggy +11 more
doaj +1 more source
FoxO1 signaling in B cell malignancies and its therapeutic targeting
FEBS Letters, EarlyView.FoxO1 has context‐specific tumor suppressor or oncogenic character in myeloid and B cell malignancies. This includes tumor‐promoting properties such as stemness maintenance and DNA damage tolerance in acute leukemias, or regulation of cell proliferation and survival, or migration in mature B cell malignancies.
Krystof Hlavac +3 more
wiley +1 more source