Clinical Impact of NOTCH3 Variant Location After First Stroke in CADASIL
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Despite its monogenic origin, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy exhibits marked variability in clinical expression and severity. Variants in the NOTCH3 gene, within epidermal growth factor‐like repeat domains 1–6 or 7–34, are known to influence disease onset, but their impact ...
Léa Aguilhon +5 more
wiley +1 more source
New Editor-in-Chief, New Challenges
Arquivos Brasileiros de CardiologiaCarlos Eduardo Rochitte
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
The value of adding 'grey literature' in evidence synthesis for equity-driven global health: a case study from Small Island Developing States. [PDF]
BMJ Glob HealthBrugulat-Panés A +6 more
europepmc +1 more source
Metabolic and Microvascular Risk Factors Associated With Brain Health in Type 1 Diabetes
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT We examined relationships between metabolic factors, microvascular complications, and brain health in adults with type 1 diabetes. Fifty‐one adults were assessed for metabolic risk factors, microvascular complications, and cognitive function, with a subset completing brain MRI.
Jihyun Park +7 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw +5 more
wiley +1 more source
Biological and Heart Age Acceleration in CKM Syndrome: Promising Stroke Predictors or Methodological Concerns? [PDF]
J Clin Hypertens (Greenwich)Qaseem M.
europepmc +1 more source
Onasemnogene Abeparvovec in Patients With SMA: Interim Results of the RESTORE Registry in Japan
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective There are limited real‐world data regarding the safety and effectiveness of onasemnogene abeparvovec (OA; Zolgensma) infusion, a one‐time gene replacement therapy, for Japanese patients with spinal muscular atrophy (SMA). We aimed to improve understanding of the real‐world outcomes for OA in Japan.
Kayoko Saito +8 more
wiley +1 more source
Uncovering G Protein‐Coupled Receptors: Novel Targets and Biomarkers for Predicting Glioma Prognosis
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Low‐grade gliomas (LGG) exhibit significant heterogeneity and recurrence risk. G protein‐coupled receptors (GPCR) contribute to glioma malignant progression, but their prognostic value remains unclear. This work attempts to formulate a GPCR‐based outcome‐predicting model for LGG. Methods Based on TCGA LGG data, the enrichment scores
Jun Yang +4 more
wiley +1 more source