Results 241 to 250 of about 2,412,239 (354)

Compound Heterozygous MRPS14 Variants Associated With Leigh Syndrome

open access: yesAnnals 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

CSF Biomarker‐Based Cognitive Trajectories in Parkinson's Disease‐Subjective Cognitive Decline

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Cognitive complaints without objective cognitive impairment in Parkinson's Disease, termed Parkinson's Disease‐Subjective Cognitive Decline (PD‐SCD), have been associated with cognitive decline. However, its progression is heterogeneous, highlighting the need for improved identification of patients at greater risk for deterioration ...
Jon Rodriguez‐Antiguedad   +7 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

3D MRI Tract‐Specific Spinal Cord Lesion Pattern Improves Prediction of Distinct Neurological Recovery

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To distinguish lateralized motor‐ and sensory‐tract damage after acute spinal cord injury (SCI) and explore its predictive power for motor and sensory recovery. Methods Thirty‐five SCI patients (two female) from a multi‐center data set (placebo‐arm of the Nogo‐A‐Inhibition in SCI trial) underwent routine T2‐weighted sagittal MRI ...
Lynn Farner   +7 more
wiley   +1 more source

Fetal Akinesia/Hypokinesia and Arthrogryposis of Neuromuscular Origin: Etiologic Groups, Genetics, and Phenotypic Spectrum

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To provide a comprehensive clinical and genetic characterization of individuals with arthrogryposis multiplex congenita (AMC), focusing on the distribution of genetic etiologies across the neuromuscular spectrum and comparing myogenic and neurogenic subtypes. Methods A total of 105 individuals with AMC were clinically and genetically
Florencia Pérez‐Vidarte   +13 more
wiley   +1 more source

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