Results 51 to 60 of about 181,649 (260)
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
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background X‐linked adrenoleukodystrophy (X‐ALD) is a neurometabolic disorder caused by pathogenic variants in ABCD1, leading to slowly progressive spinal cord disease in nearly all affected men. Sensitive biomarkers to quantify disease severity and predict progression are needed for clinical care and trial design.
Eda G. Kabak +4 more
wiley +1 more source
Predictive Ability of Plasma p‐tau217 for β‐Amyloid Status: A Prospective Multicenter Study
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Plasma tau phosphorylated at threonine 217 (p‐tau217) measured with fully automated platforms has shown high accuracy for Alzheimer's disease (AD) diagnosis, but real‐world multicenter data remain limited. We aimed to validate the diagnostic performance of p‐tau217 for identifying AD pathology in a real‐world multicenter cohort ...
Miquel Massons +33 more
wiley +1 more source
Goals and objectives of the «effective contract»: ideology and problems of implementation
Ekonomika Nauki, 2015 Introduction of an effective contract exceeded the framework of a «concrete labor contract». It relates to a wide bredth of questions, such as how to increase salaries, at the cost of which resources, is it possible to cut renumeration within an ...
F. N. Kadirov
doaj
Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach +23 more
wiley +1 more source
Recurrent Hypothermia and Autonomic Dysfunction Secondary to Shapiro Syndrome
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT A 44‐year‐old man presented with recurrent hypothermia, diaphoresis and hypertension. Extensive investigation for infectious, inflammatory, metabolic and endocrine aetiologies was negative. MR scan of the brain demonstrated no lesions but revealed callosal dysgenesis, consistent with Shapiro syndrome.
Naveen Kumar +3 more
wiley +1 more source
CONDITIONS OF IMPLEMENTATION EFFECTIVE CONTRACT FOR EDUCATIONAL RESEARCH STAFF OF UNIVERSITIES
Модернизация, инновация, развитие, 2015 Increasing salaries educational research staff in relation to the average salary in the subject of the Russian Federation will directly depend on the effectiveness of their work and the quality of their services.
A. A. Kondrateva, I. M. Shirko
doaj
Effective Contract in the Sphere of Higher Education in the Russian Federation
Мир новой экономикиThe relevance of the research topic. The effective contract system is a crucial tool for developing the university’s human capital. An effective contract is a contract that includes a clear system of indicators, the achievement of which will serve as the
E. N. Zharova
doaj +1 more source
Onasemnogene Abeparvovec in Patients With SMA: Interim Results of the RESTORE Registry in Japan
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective There are limited real‐world data regarding the safety and effectiveness of onasemnogene abeparvovec (OA; Zolgensma) infusion, a one‐time gene replacement therapy, for Japanese patients with spinal muscular atrophy (SMA). We aimed to improve understanding of the real‐world outcomes for OA in Japan.
Kayoko Saito +8 more
wiley +1 more source
Subsequent Nullity of Contract [PDF]
Faṣlnāmah-i Pizhūhish-i Huqūq-i KhuṣūṣīFor a contract to be effective and to meet the intentions of the parties to the agreement, a set of roughly similar conditions is established in the form of legal rules in all legal systems.
abbas karimi, Shahab Tariveh
doaj +1 more source