Results 151 to 160 of about 1,796,368 (288)
Boundary‐Dependent Sleep–Wake Dysregulation in Idiopathic Hypersomnia
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
Utility of the APE2 Score as a Diagnostic Tool for Autoimmune Encephalitis
ABSTRACT Objective To retrospectively evaluate the diagnostic performance of the Antibody Prevalence in Epilepsy and Encephalopathy (APE2) score relative to clinician‐adjudicated autoimmune encephalitis (AE) and the Graus criteria in a tertiary neuroimmunology referral cohort, including antibody‐negative AE.
Bijoya Basu +3 more
wiley +1 more source
Generalized Dystonia With Cervical Predominance in a Patient With a De Novo TCF20 Variant
ABSTRACT TCF20 has been implicated in developmental delay and intellectual disability, with dystonia reported less frequently. We describe a woman in her early twenties with childhood‐onset learning difficulties, progressive dysarthria, tremor, and generalized dystonia with marked cervical predominance, associated with a de novo TCF20 frameshift ...
Melisa Kilic +7 more
wiley +1 more source
The ELISA Systems for the NIST'99 Evaluation in Speaker Detection and Tracking
This article presents the text-independent speaker detection and tracking systems developed by the members of the {ELISA} Consortium for the {NIST'99} speaker recognition evaluation campaign.
Verlinde, Patrick +20 more
core
ABSTRACT Background Dysregulated lipid metabolism, which can affect remyelination and neural repair, has not been extensively investigated in progressive multiple sclerosis (PMS). The goal was to examine whether dysregulated cholesterol metabolism was associated with disability in PMS. Methods The study sample comprised 53 Severe PMS patients (Expanded
Taylor R. Wicks +8 more
wiley +1 more source
Juvenile Huntington Disease With Cerebellar‐Predominant Atrophy Identified by Genome Sequencing
ABSTRACT Juvenile Huntington disease accounts for a small fraction of Huntington disease cases and is driven by the largest trinucleotide repeat expansions. We describe a 6‐year‐old boy with progressive global regression, generalized dystonia, and epilepsy, in whom serial imaging showed striking cerebellar‐predominant atrophy with an initially normal ...
Enrique Gonzalez Saez‐Diez +5 more
wiley +1 more source
Myostatin/Smad3 in Spinal Muscular Atrophy: Biomarkers of Disease Severity and Treatment Response
ABSTRACT Objective Given the role of Myostatin (MSTN) in muscle homeostasis and its modulation by current spinal muscular atrophy (SMA) therapies, we investigated serum MSTN and, for the first time, its downstream effector Smad3 as candidate non‐invasive biomarkers in SMA patients undergoing disease‐modifying therapies (DMTs).
Giorgia Riolo +11 more
wiley +1 more source
ABSTRACT Background Blood‐based biomarkers are increasingly used to identify Alzheimer's disease (AD) pathology and may play an important role in early disease screening and participant selection for clinical trials. However, their performance across stages of cognitive impairment remains unclear. This study examined whether plasma biomarkers differ in
Maryam Abdolmaleki +7 more
wiley +1 more source
Objective The objective of this article is to identify perceptions of patients with systemic lupus erythematosus (SLE) regarding artificial intelligence (AI)–based online symptom assessment tools, and the potential of these tools to address diagnostic barriers.
Olivia A. Stein +7 more
wiley +1 more source

