Results 131 to 140 of about 1,205,232 (260)
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background SOX1 antibody‐positive paraneoplastic neurological syndromes (PNS) exhibit significant population‐specific clinical heterogeneity. While Western cohorts predominantly manifest Lambert‐Eaton myasthenic syndrome (65%–80%), comprehensive clinical characterization and treatment response data in Asian populations remain critically ...
Jin‐Long Ye +11 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To delineate specific in vivo white matter pathology in neuronal intranuclear inclusion disease (NIID) using diffusion spectrum imaging (DSI) and define its clinical relevance. Methods DSI was performed on 42 NIID patients and 38 matched controls.
Kaiyan Jiang +10 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background and Objectives Multiple sclerosis (MS) exhibits racially disparate rates of disease progression. Black people with MS (B‐PwMS) experience a more severe disease course than non‐Hispanic White people with MS (NHW‐PwMS). Here we investigated structural and functional connectivity as well as structure–function decoupling in the ...
Emilio Cipriano +11 more
wiley +1 more source
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
Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz +3 more
wiley +1 more source
ALS mutations disrupt self-association between the ubiquilin STI1 hydrophobic groove and internal placeholder sequences. [PDF]
EMBO JOnwunma J +6 more
europepmc +1 more source
Multidimensional Profiling of MRI‐Negative Temporal Lobe Epilepsy Uncovers Distinct Phenotypes
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Although hippocampal sclerosis (TLE‐HS) represents the most frequent cause of temporal lobe epilepsy (TLE), up to 30% of patients show no lesion on visual MRI inspection (TLE‐MRIneg). These cases pose diagnostic and therapeutic challenges and are underrepresented in surgical series.
Alice Ballerini +28 more
wiley +1 more source
Canine parvovirus type 2 infection in vaccinated puppies: role of vaccination practices and viral antigenic variation. [PDF]
BMC Vet ResSafwat MS, Khodeir MH, Etman RH.
europepmc +1 more source
CSF Monoamine Metabolites and Cognitive Trajectory in Early Parkinson's Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Imaging and postmortem studies indicate that abnormalities in monoaminergic neurotransmission contribute to cognitive impairment in Parkinson's disease (PD). However, it remains uncertain if cerebrospinal fluid (CSF) monoamine metabolites can serve as biomarkers of cognitive decline in early PD.
Jing‐Yu Shao +7 more
wiley +1 more source
SPG4 and Dementia: Expanding the Clinical Spectrum
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza +19 more
wiley +1 more source