Results 91 to 100 of about 8,378 (267)
Relationship Between Neurologic Symptoms and Signs and FMR1 Genotype in Premutation Carriers
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background and Objectives Fragile X‐associated Tremor/Ataxia Syndrome (FXTAS) is the most severe late‐onset condition caused by a premutation in the FMR1 gene, characterized by expanded CGG triplet repeats of 55–200. Clinical presentations of FXTAS, including gait ataxia, kinetic tremor, cognitive decline, and rare Parkinsonism, are linked to ...
Flora Tassone +8 more
wiley +1 more source
Ekonomika Poljoprivrede (1979)Loyalty as the basis for developing long-term relationshipswith customers is researched in the frame of Social ExchangeTheory. Companies invest a lot in loyalty programs toensure adequate customer relationship management.
Goran Petković +2 more
doaj +1 more source
RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source
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
Development of loyalty programs for sellers of the main Russian marketplaces
Вестник Северо-Кавказского федерального университетаIntroduction. An oligopolistic situation has developed in the Russian marketplace market, where two main market players occupy a dominant position.
S. G. Kholmovsky
doaj +1 more source
Movement Disorders in Aicardi–Goutières Syndrome and Response to Immunomodulation
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT This study characterizes movement disorders and treatment responses in seven children with Aicardi–Goutières syndrome (AGS). We retrospectively evaluated motor phenotypes, neuroimaging, and interferon signatures in patients treated with baricitinib or anifrolumab. Spasticity affected all patients, while dystonia was present in 4/7.
Enrique Gonzalez Saez‐Diez +10 more
wiley +1 more source
ComputationThe diversity of approaches for retaining participants in a Blockchain-based system complicates benchmarking. The majority of proposals for rewarding and penalizing participants in these systems are limited to their own set of data and scenarios, making ...
Abdellah Ouaguid +4 more
doaj +1 more source
Screening Routine Clinical Notes for Epilepsy Surgery Candidates Using Large Language Models
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Epilepsy surgery is severely underutilized despite proven efficacy, with substantial under‐referral of eligible patients in routine clinical practice. This study evaluated the potential role of large language models (LLMs) as decision‐support tools for screening unstructured clinical notes to identify epilepsy surgery candidates and ...
Uriel Fennig +9 more
wiley +1 more source
Peripheral Neutrophil Activation and Extracellular Trap Formation in Amyotrophic Lateral Sclerosis
Annals of Clinical and Translational Neurology, EarlyView.Markers of neutrophil activation are increased in plasma during ALS, and markers of NET formation associate with ALS survival. ABSTRACT Objectives Peripheral neutrophil levels in amyotrophic lateral sclerosis (ALS) inversely correlate with survival, suggesting a role for neutrophils in disease progression.
Lillia A. Baird +9 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Facioscapulohumeral muscular dystrophy (FSHD) is one of the most debilitating and common muscular dystrophies. Despite its severity, no approved therapy exists for FSHD patients. However, several therapeutic candidates are currently under development, and some have recently entered clinical trials, marking the need for reliable ...
Mustafa Bilal Bayazit +11 more
wiley +1 more source