Results 161 to 170 of about 311,557 (292)
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Poststroke fatigue (PSF) and frailty share substantial overlap in their manifestations, yet previous research has yielded conflicting results due to the use of heterogeneous frailty assessment tools. Objective To evaluate the independent impact of frailty on PSF using a unified measurement system (Tilburg Frailty Indicator, TFI ...
Chuan‐Bang Chen +6 more
wiley +1 more source
Insights Into the Antigenic Repertoire of Unclassified Synaptic Antibodies
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective We sought to characterize the sixth most common finding in our neuroimmunological laboratory practice (tissue assay‐observed unclassified neural antibodies [UNAs]), combining protein microarray and phage immunoprecipitation sequencing (PhIP‐Seq). Methods Patient specimens (258; 133 serums; 125 CSF) meeting UNA criteria were profiled;
Michael Gilligan +22 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Peripheral neuropathies contribute to patient disability but may be diagnosed late or missed altogether due to late referral, limitation of current diagnostic methods and lack of specialized testing facilities. To address this clinical gap, we developed NeuropathAI, an interpretable deep learning–based multiclass classification ...
Chaima Ben Rabah +7 more
wiley +1 more source
Reduced Muscular Carnosine in Proximal Myotonic Myopathy—A Pilot 1H‐MRS Study
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Myotonic dystrophy type 2 (proximal myotonic myopathy, PROMM) is a progressive multisystem disorder with muscular symptoms (proximal weakness, pain, myotonia) and systemic manifestations such as diabetes mellitus, cataracts, and cardiac arrhythmias.
Alexander Gussew +11 more
wiley +1 more source
Musculoskeletal deformities of Alström syndrome-a review of 55 cases
Orphanet Journal of Rare DiseasesIntroduction Alström syndrome (ALMS) is an ultra-rare metabolic disorder caused by biallelic loss-of-function in the Alms1 gene which encodes a ubiquitously expressed centrosomal protein of the primary cilium.
Subadra Wanninayake +5 more
doaj +1 more source
Discovery and Targeted Proteomic Studies Reveal Striatal Markers Validated for Huntington's Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Clinical trials for Huntington's disease (HD) enrolling persons before clinical motor diagnosis (CMD) lack validated biomarkers. This study aimed to conduct an unbiased discovery analysis and a targeted examination of proteomic biomarkers scrutinized by clinical validation. Methods Cerebrospinal fluid was obtained from PREDICT‐HD and
Daniel Chelsky +8 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective People with epilepsy (PWE) may experience cognitive deficits but fail to undergo formal evaluation. This study compares cognitive status between PWE and healthy controls in the West African Republic of Guinea. Methods A cross‐sectional, case–control study was conducted in sequential recruitment phases (July 2024–July 2025) at Ignace ...
Maya L. Mastick +14 more
wiley +1 more source
Unraveling the genetic spectrum of inherited deaf-blindness in Portugal
Orphanet Journal of Rare DiseasesBackground Syndromic genetic disorders affecting vision can also cause hearing loss, and Usher syndrome is by far the most common etiology. However, many other conditions can present dual sensory impairment.
Telma Machado +6 more
doaj +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Glioma recurrence severely impacts patient prognosis, with current treatments showing limited efficacy. Traditional methods struggle to analyze recurrence mechanisms due to challenges in assessing tumor heterogeneity, spatial dynamics, and gene networks.
Lei Qiu +10 more
wiley +1 more source
Clinically Relevant Outcome Measures in Women With Adrenoleukodystrophy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Adrenoleukodystrophy is a rare inherited peroxisomal disease caused by pathogenic variants in the ABCD1 gene located on the X chromosome. Although the most severe central nervous system and adrenal complications typically affect only men with adrenoleukodystrophy, the majority of women develop myeloneuropathy symptoms in adulthood.
Chenwei Yan +3 more
wiley +1 more source