Compound Heterozygote Friedreich Ataxia Patients With Covert Proximal FXN Gene Deletions
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT We present Friedreich ataxia patients with frataxin gene deletions. Data and records were collected at the Children's Hospital of Philadelphia from patients enrolled in the FACOMS natural history study. Patients with proximal deletions initially diagnosed with only one GAA expanded allele had more severe disease than their homozygous expansion
Michael P. Lazaropoulos +5 more
wiley +1 more source
Hyperspectral proximal sensing shows clear relation between Spatial pattern of leaf traits and bacterial alpha diversity. [PDF]
Sci RepKong F +12 more
europepmc +1 more source
Neurovascular Contacts in the Pathophysiology of Neuralgic Amyotrophy: An Observational Study
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Neuralgic amyotrophy (NA) is a prevalent, monophasic, multifocal immune‐mediated neuropathy. A distinctive characteristic of the disease is the occurrence of nerve or fascicle constrictions and torsions (NA‐associated focal nerve lesions, NAFL). The pathophysiology underlying this phenomenon remains to be fully elucidated.
Johannes Fabian Holle +4 more
wiley +1 more source
Integrating UAV multispectral imaging and proximal sensing for high-precision cereal crop monitoring. [PDF]
PLoS OneGrbović Ž +8 more
europepmc +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective We aim to comprehensively analyze how regional tumor and edema characteristics are associated with clinical presentations and survival outcomes in a large cohort of glioblastoma patients. Methods Patients with IDH‐wildtype glioblastoma who received brain MRI from 2010 to 2023 were included.
Daniel J. Zhou +16 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Introduction/Objective Acute intracranial stenting during endovascular thrombectomy (EVT) for ischemic stroke requires intraprocedural antiplatelet therapy (APT) to maintain patency. However, the hemorrhagic risk of combining APT with intravenous thrombolysis (IVT) remains uncertain.
Aaron Rodriguez‐Calienes +75 more
wiley +1 more source
Characterizing Cutaneous α‐Synuclein Deposition and Seeding Activity in Parkinson's Disease Subtypes
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Cutaneous phosphorylated α‐synuclein (p‐syn) and α‐synuclein seeding activity are promising biomarkers for Parkinson's disease (PD), but their clinical value remains uncertain due to disease heterogeneity. This study evaluates these two biomarkers in PD patients to inform phenotype‐specific diagnosis and disease severity assessment ...
Yuting Jin +8 more
wiley +1 more source
Deploying a Proximal Sensing Cart to Identify Drought-Adaptive Traits in Upland Cotton for High-Throughput Phenotyping. [PDF]
Front Plant Sci, 2018 Thompson AL +6 more
europepmc +1 more source
Deep Learning Pose Estimation for Phenotyping of Co‐Occurring Hyperkinetic Movement Disorders
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To explore whether routine outpatient video combined with deep learning‐based pose estimation and clinically interpretable kinematic features can support multi‐label phenotyping of co‐occurring hyperkinetic movement disorders (HMDs).
Laura Cif +17 more
wiley +1 more source
Augmenting and Assaying Nav1.1 Protein Quantity for Dravet Syndrome Therapy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Dravet Syndrome (DS) is a developmental and epileptic encephalopathy predominantly caused by heterozygous loss‐of‐function variants in SCN1A, which encodes Nav1.1. Conserved upstream open reading frames (uORFs) in SCN1A were validated to regulate translation in reporter assays, demonstrating the therapeutic viability of increasing Nav1.1 from ...
Aiswarya Saravanan +7 more
wiley +1 more source