Results 51 to 60 of about 908,581 (267)
Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz +3 more
wiley +1 more source
Вестник Кемеровского государственного университета, 2017 This article analyzes the development of the external state debt of the Russian Empire during the reign of Paul I. That period was marked by dynamic processes in Russia's foreign policy in general and in the development of its foreign debt in particular.
Oleg V. Baev
doaj +1 more source
A new pliosaurid from the Oxford Clay Formation of Oxfordshire, UK
Acta Palaeontologica Polonica, 2022 We describe the anatomy of a new longirostrine pliosaurid, Eardasaurus powelli gen. et sp. nov., based on a substantially complete skeleton from the Middle Jurassic Oxford Clay Formation of Oxfordshire, UK.
HILARY F. KETCHUM, ROGER B.J. BENSON
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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
"Elementary, my dear Watson". Per una falsa citazione [PDF]
Parole Rubate, 2014 Nowhere, among Sir Arthur Conan Doyle's pages concerning one of the most celebrated characters of British literature, Sherlock Holmes, is to be found the interjection: "Elementary, my dear Watson!".
Irene Minella
doaj
Long‐Term Efficacy of Immunotherapy in Autoimmune Autonomic Ganglionopathy—A 10‐Year Follow Up Study
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Autoimmune autonomic ganglionopathy (AAG) is a rare but potentially treatable cause of severe autonomic failure. Evidence guiding long‐term immunotherapy, treatment sequencing, and residual autonomic impairment is limited. We evaluated long‐term treatment response, residual autonomic dysfunction, and relapse patterns in patients with
Giacomo Chiaro +6 more
wiley +1 more source
Social distancing, population density, and spread of COVID-19 in England: a longitudinal study
BJGP Open, 2020 Background: The UK government introduced social distancing measures between 16–22 March 2020, aiming to slow down transmission of COVID-19. Aim: To explore the spreading of COVID-19 in relation to population density after the introduction of social ...
Peter Tammes
doaj +1 more source
Digital Cognitive Phenotyping for Differential Diagnosis and Monitoring in Neurological Conditions
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To assess the utility, accessibility, and equivalence to supervised scales of online cognitive assessment in older individuals with cognitive impairment. Methods Patients with Alzheimer's disease (AD, n = 31), idiopathic normal pressure hydrocephalus (iNPH, n = 26), and traumatic brain injury (TBI, n = 23) completed online cognitive ...
Martina Del Giovane +10 more
wiley +1 more source