SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas +18 more
wiley +1 more source
Convolutional neural network approach for automated well zonation in the Lower Bahariya member north Western Desert Egypt. [PDF]
Sci RepSaleh K, Mabrouk WM, Metwally AM.
europepmc +1 more source
Estimated quantity of water in fractured bedrock units on Mt. Desert Island, and estimated ground-water use, recharge, and dilution of nitrogen in septic waste in the Bar Harbor area, Maine [PDF]
, 2002 Martha G. Nielsen
openalex +1 more source
Diffusion Tractography Biomarker for Epilepsy Severity in Children With Drug‐Resistant Epilepsy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To develop a novel deep‐learning model of clinical DWI tractography that can accurately predict the general assessment of epilepsy severity (GASE) in pediatric drug‐resistant epilepsy (DRE) and test if it can screen diverse neurocognitive impairments identified through neuropsychological assessments.
Jeong‐Won Jeong +7 more
wiley +1 more source
Impact of curing temperature on accuracy and physical properties of additively manufactured FDPs and bar specimens. [PDF]
Sci RepNold J +6 more
europepmc +1 more source
Unit Cost Prediction Model Development for the Domestic Reinforced Bar using System Dynamics [PDF]
, 2013 Yong-Ho Ko +3 more
openalex +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background There is growing recognition of the potential of plasma proteomics for Alzheimer's Disease (AD) risk assessment and disease characterization. However, differences between proteomics platforms introduce uncertainties regarding cross‐platform applicability.
Manyue Hu +9 more
wiley +1 more source
Insights Into the Antigenic Repertoire of Unclassified Synaptic Antibodies
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective We sought to characterize the sixth most common finding in our neuroimmunological laboratory practice (tissue assay‐observed unclassified neural antibodies [UNAs]), combining protein microarray and phage immunoprecipitation sequencing (PhIP‐Seq). Methods Patient specimens (258; 133 serums; 125 CSF) meeting UNA criteria were profiled;
Michael Gilligan +22 more
wiley +1 more source