Results 151 to 160 of about 1,607,618 (308)
Compound Heterozygous MRPS14 Variants Associated With Leigh Syndrome
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT MRPS14 (uS14m) is a nuclear‐encoded ribosomal protein important for mitochondria‐specific translation. To date, only a single individual with a recessive MRPS14‐related disorder (also known as COXPD38) has been reported. We report an additional subject possessing novel compound heterozygous MRPS14 variants (p.Asp37Asn, p.Asn60Asp). The subject
Maria Gabriela Otero +15 more
wiley +1 more source
Histone Deacetylase 6 Brain PET in Amyotrophic Lateral Sclerosis‐Frontotemporal Spectrum Disorder
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective [18F]EKZ‐001 is a positron emission tomography (PET) tracer targeting histone deacetylase 6 (HDAC6), an enzyme responsible for intracellular transport and clearance of misfolded proteins. HDAC6 modulation is a promising treatment strategy in neurodegenerative disorders, including amyotrophic lateral sclerosis (ALS).
Greet Vanderlinden +15 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Amygdala enlargement has been the subject of controversial studies regarding its significance in terms of pathogenicity both in epilepsy and in psychiatric comorbidities such as anxiety, depression, and post‐traumatic stress disorder.
Hélène Mourre +15 more
wiley +1 more source
A skin lesion after cardiac catheterization [PDF]
, 2012 Alaminos, Miguel +6 more
core +2 more sources
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective People with HIV (PWH) on antiretroviral therapy (ART) still experience neurocognitive dysfunction and accelerated brain volume loss. To assess whether the serotonergic and dopaminergic systems are affected, we used [11C]DASB positron emission tomography (PET) to assess presynaptic serotonergic function and [18F]FDOPA PET to measure ...
Chuen‐Yen Lau +12 more
wiley +1 more source
Stroke Lesion Segmentation using Multi-Stage Cross-Scale Attention [PDF]
arXivPrecise characterization of stroke lesions from MRI data has immense value in prognosticating clinical and cognitive outcomes following a stroke. Manual stroke lesion segmentation is time-consuming and requires the expertise of neurologists and neuroradiologists.
arxiv
Precision‐Optimised Post‐Stroke Prognoses
Annals 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
ConfLUNet: Multiple sclerosis lesion instance segmentation in presence of confluent lesions [PDF]
arXivAccurate lesion-level segmentation on MRI is critical for multiple sclerosis (MS) diagnosis, prognosis, and disease monitoring. However, current evaluation practices largely rely on semantic segmentation post-processed with connected components (CC), which cannot separate confluent lesions (aggregates of confluent lesion units, CLUs) due to reliance on
arxiv
Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Approximately half of patients with hereditary myopathies remain without a definitive genetic diagnosis after DNA next‐generation sequencing (NGS). Here, we implemented transcriptome analysis of muscle biopsies as a complementary diagnostic tool for patients with muscle disease but no definitive genetic diagnosis after exome ...
Alba Segarra‐Casas +24 more
wiley +1 more source