Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Sara Rubio‐Guerra +17 more
wiley +1 more source
Interpretable noninvasive diagnosis of tuberculous pleural effusion using LGBM and SHAP: development and clinical application of a machine learning model. [PDF]
PeerJYao B +7 more
europepmc +1 more source
Spinal Cord Abnormalities in Early Pediatric Multiple Sclerosis
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Spinal cord lesions and atrophy in the cervical region are common in adult multiple sclerosis (MS) and correlate with disability. Whether similar abnormalities occur in pediatric MS patients is largely unknown. Clinical and MRI evaluations were performed in 38 pediatric MS patients and 13 healthy controls (HC).
Monica Margoni +7 more
wiley +1 more source
Clustering and Interpretability of Residential Electricity Demand Profiles. [PDF]
Sensors (Basel)Kallel S, Amayri M, Bouguila N.
europepmc +1 more source
HPDL Variant Type Correlates With Clinical Disease Onset and Severity
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Recently, a mitochondrial encephalopathy due to biallelic HPDL variants was described, associated with a broad range of clinical manifestations ranging from severe, infantile‐onset neurodegeneration to adolescence‐onset hereditary spastic paraplegia. HPDL converts 4‐hydroxyphenylpyruvate acid (4‐HPPA) into 4‐hydroxymandelate (4‐HMA),
Eun Hye Lee +19 more
wiley +1 more source
A comprehensive interpretable machine learning framework for mild cognitive impairment and Alzheimer's disease diagnosis. [PDF]
Sci RepVlontzou ME +5 more
europepmc +1 more source
Dysphagia and Mortality Risk in Individuals With Primary Progressive Apraxia of Speech
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Individuals with primary progressive apraxia of speech (PPAOS) often develop parkinsonism and dysphagia. To evaluate the clinical correlates and impact of dysphagia in this population, we compared enrollment visit data between individuals with (n = 12) versus individuals without (n = 44) dysphagia symptoms.
Gabriela Meade +8 more
wiley +1 more source
Unlocking RNA mysteries: Predicting subcellular localizations with AI. [PDF]
Mol Ther Nucleic AcidsLe NQK.
europepmc +1 more source
CNS Mitochondria‐Derived Vesicle in Blood: Potential Biomarkers for Brain Mitochondria Dysfunction
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Mitochondrial dysfunction is a hallmark of neurodegenerative diseases like Alzheimer's (AD) and Parkinson's (PD). Our goal was to develop practical, noninvasive methods to assess mitochondrial status through the detection of mitochondria‐derived vesicles (MDVs).
Qi Liu +12 more
wiley +1 more source