Results 201 to 210 of about 4,331 (257)

Spinal Cord Abnormalities in Early Pediatric Multiple Sclerosis

open access: yesAnnals 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

HPDL Variant Type Correlates With Clinical Disease Onset and Severity

open access: yesAnnals 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

CNS Mitochondria‐Derived Vesicle in Blood: Potential Biomarkers for Brain Mitochondria Dysfunction

open access: yesAnnals 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

Validity and Reliability of Clinical and Patient‐Reported Outcomes in Multisystem Proteinopathy 1

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Valosin‐containing protein (VCP)‐associated multisystem proteinopathy 1 (MSP1) is caused by variants in the VCP gene. MSP1 results in various phenotypes including progressive myopathy, Paget's disease of bone, frontotemporal dementia, amyotrophic lateral sclerosis, and parkinsonism, among others.
Lindsay N. Alfano   +15 more
wiley   +1 more source

Glycosylation Gene Signatures as Prognostic Biomarkers in Glioblastoma

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Glioblastoma (GBM) is an aggressive brain tumor characterized by significant heterogeneity. This study investigates the role of glycosylation‐related genes in GBM subtyping, prognosis, and response to therapy. Methods We analyzed mRNA expression data and clinical information from The Cancer Genome Atlas (TCGA) and Gene Expression ...
Tong Zhao   +4 more
wiley   +1 more source

Precision‐Optimised Post‐Stroke Prognoses

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Current medicine cannot confidently predict who will recover from post‐stroke impairments. Researchers have sought to bridge this gap by treating the post‐stroke prognostic problem as a machine learning problem, reporting prediction error metrics across samples of patients whose outcomes are known.
Thomas M. H. Hope   +4 more
wiley   +1 more source

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