Results 91 to 100 of about 677 (269)

Posterior Disconnection Syndrome in Early‐Stage Adult‐Onset Cerebral Adrenoleukodystrophy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Adult‐onset cerebral adrenoleukodystrophy is potentially treatable but often difficult to recognize before advanced cerebral involvement. Herein, we describe three men with early‐stage disease who initially presented with subtle visual complaints rather than subcortical dementia. Targeted neuropsychological testing revealed higher‐order visual
Kazuto Katsuse   +13 more
wiley   +1 more source

Neurological, Neurodevelopmental and Treatment Outcomes in Patients With Pyruvate Dehydrogenase Complex Deficiency

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The aim of this study was to characterize intellectual and motor function, neurological features including epilepsy, treatment response, and adaptive behavior in patients with pyruvate dehydrogenase complex deficiency (PDCD) in Sweden.
Antri Savvidou   +6 more
wiley   +1 more source

Boundary‐Dependent Sleep–Wake Dysregulation in Idiopathic Hypersomnia

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Idiopathic hypersomnia (IH) presents with excessive daytime sleepiness (EDS) despite apparently preserved nocturnal sleep, challenging traditional models of hypersomnolence based on sleep loss or fragmentation. We aimed to test the hypothesis that EDS in IH reflects excessive stabilization of the sleep state, consistent with ...
Samantha Mombelli   +13 more
wiley   +1 more source

Book review: Embedded power of regularized intergovernmentalism in Europe

open access: yesRevista CIDOB d'Afers Internacionals, 2014
Review of the book: Krotz, Ulrich y Schild, Joachim. Shaping Europe: France, Germany and Embedded Bilateralism from the Elysée Treaty to Twenty-First Century Politics. Oxford University Press, 2013. 340 págs.
Andriy Tyushka
doaj  

Developing an ocean governance regime for China-Pakistan economic corridor: a comparison of the marine environmental legislation and policy framework by utilizing CRILL methodology

open access: yesFrontiers in Marine Science
Bilateralism in ocean governance is a novel concept that can be developed under the existing International Environmental Law (IEL) and United Nations Convention on the Law of the Sea (UNCLOS).
Shijun Zhang   +4 more
doaj   +1 more source

Clinical Impact of MGMT Promoter Methylation in IDH‐Mutant Gliomas: Influence of Threshold Selection and Clinical Confounding

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background The clinical relevance of MGMT promoter methylation in IDH‐mutant gliomas remains controversial in the era of molecular classification. We aimed to systematically evaluate its clinical relevance by integrating quantitative assessment, cutoff exploration, and adjustment for clinical confounding.
Haihui Jiang   +7 more
wiley   +1 more source

A Novel KCNA1 Variant in a Patient With Tremor and Autism Spectrum Disorder Causes Mixed LOF/GOF Defects of Kv1.1 Channels

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Variants in KCNA1, encoding the Kv1.1 potassium channel, cause neurological disorders including episodic ataxia and developmental and epileptic encephalopathy. We identified a novel KCNA1 variant (A401T) in a 16‐year‐old patient with autism spectrum disorder, borderline intellectual disability, and tremor, without episodic ataxia or epilepsy ...
Juan Darío Ortigoza‐Escobar   +7 more
wiley   +1 more source

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