Results 121 to 130 of about 613,794 (269)
Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Sarcoglycanopathies are among the most severe limb‐girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on protein maturation, complex formation, and transport has hindered reliable genotype ...
Leonela Luce +72 more
wiley +1 more source
Analysis of dynamic traffic models and assignments
, 2007 This paper develops a comprehensive framework for analysing and solving traffic models and assignments in dynamic setting. Traffic models capture the time-varying travel times and flows on a road network and traffic assignments represent the ...
Chow, A.H.F., Andy H. F. Chow
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SPG4 and Dementia: Expanding the Clinical Spectrum
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza +19 more
wiley +1 more source
Promet (Zagreb)The transportation sector wields substantial influence on society, encompassing economic, social and environmental dimensions of sustainability. Recognising environmentally conscious actions initiated by individuals, particularly at grassroots levels ...
Andrei AGACHE +3 more
doaj +1 more source
Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni +19 more
wiley +1 more source
Evaluation of Community-Oriented Enforcement Demonstration Projects [Traffic Tech]
This edition of Traffic Tech briefly summarizes a project evaluating effectiveness of two law enforcement agencies\u2019 use of a data-driven approaches to traffic enforcement supported by community-oriented policing to improve traffic safety and ...
United States. Department of Transportation. National Highway Traffic Safety Administration. National Center for Statistics and Analysis
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Objectives, stimulus and feedback in signal control of road traffic
, 2004 This article identifies the prospective role of a range of intelligent transport systems technologies for the signal control of road traffic. We discuss signal control within the context of traffic management and control in urban road networks and then ...
Heydecker, BG
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Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw +5 more
wiley +1 more source
Traffic Infrastructure in the Development of the Croatian Traffic System
, 2012 The absence of a long-term traffic policy and of the policyof financing the constntction and maintenance of traffic infrastructurefacilities, represents a synthesis of numerous unresolvedrelations whose negative effects are felt in the overalleconomic ...
Marinko Jurčević, Damir Šimulčik
core +1 more source