Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina +11 more
wiley +1 more source
Long pentraxin 3 (PTX3) regulates IL-17A-mediated immunity to <i>Leishmania major</i> infection in mice. [PDF]
Front ImmunolGupta G +6 more
europepmc +1 more source
FDG‐PET Associations With Disease Severity and Outcomes in NMDA‐Receptor IgG Autoimmune Encephalitis
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Patients with N‐methyl‐D‐aspartate (NMDA) receptor‐immunoglobulin G (IgG) autoimmune encephalitis (NMDAR‐IgG AE) demonstrate occipital lobe hypometabolism on baseline brain fluorodeoxyglucose‐positron emission tomography (bFDG‐PET).
Jonathan K. Lee +7 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To explore how cerebral hypoxia and Normal‐Appearing White Matter (NAWM) integrity affect MS lesion burden and clinical course. Methods Seventy‐nine MS patients, including 13 clinically isolated syndrome (CIS) patients and 66 relapsing–remitting multiple sclerosis (RRMS) patients, and 44 healthy controls (HCs) were recruited from ...
Xinli Wang +8 more
wiley +1 more source
Establishment of a long-term secondary lymphedema animal model in the rodent hindlimb. [PDF]
Front SurgYoon SH +5 more
europepmc +1 more source
Quantifying the Impact of Ocrelizumab on Paramagnetic Rim Lesions in Multiple Sclerosis
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Paramagnetic rim lesions (PRLs) are a subset of chronic active multiple sclerosis (MS) lesions marked by iron‐laden microglia and macrophages. Ocrelizumab, a monoclonal antibody targeting CD20+ B cells, suppresses acute MS activity, but its effect on PRLs remains unclear. In a longitudinal study of 29 ocrelizumab‐treated patients with at least
Kimberly H. Markowitz +8 more
wiley +1 more source
Sparse Reconstruction of Pressure Field for Wedge Passive Fluidic Thrust Vectoring Nozzle. [PDF]
Sensors (Basel)Huang Z, Gu Y, Xu Q, Li L.
europepmc +1 more source
Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Sarcoglycanopathies are among the most severe limb‐girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on protein maturation, complex formation, and transport has hindered reliable genotype ...
Leonela Luce +72 more
wiley +1 more source
Bottom-up perspectives on hospital-wide patient flow - a multi-site qualitative study of solutions to organisational paradoxes. [PDF]
BMC Health Serv ResÅhlin P.
europepmc +1 more source
Von Economo Neuron Loss in Frontotemporal Dementia: A Meta‐Analysis of Neuropathological Studies
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Von Economo neurons (VENs) have been reported to be vulnerable to neurodegeneration in frontotemporal dementia (FTD), particularly the behavioral variant (bvFTD), but these findings have not been systematically assessed across independent brain banks.
Daniel Talmasov +2 more
wiley +1 more source