NOTCH2NLC Repeat Expansions in Parkinsonian Disorders: Clinical and Neuroimaging Characteristics
ABSTRACT Objective Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disorder caused by NOTCH2NLC GGC repeat expansions, with heterogeneous clinical manifestations, including parkinsonism. Recent studies have identified NOTCH2NLC repeat expansions in patients with Parkinson's disease (PD) and atypical parkinsonism (aPM), suggesting ...
Han‐Lin Chiang+7 more
wiley +1 more source
Central Dysmyelination in SSADH‐Deficient Humans and Mice
ABSTRACT Objectives Succinic semialdehyde dehydrogenase deficiency (SSADHD) is an inherited metabolic disorder characterized by an accumulation of γ‐aminobutyric (GABA). In addition to its synaptic role as an inhibitory neurotransmitter, GABA also plays an important role in myelination.
Itay Tokatly Latzer+11 more
wiley +1 more source
Summary: Hippocampal pyramidal cells possess elaborate dendritic arbors with distinct domains that are targeted with input-specific synaptic sites. This synaptic arrangement is facilitated by synaptic cell-adhesion molecules that act as recognition ...
Thomas R. Murphy+4 more
doaj +1 more source
The rs10191329 Risk Allele Is Associated With Pronounced Retinal Layer Atrophy in Multiple Sclerosis
ABSTRACT Objective To investigate whether the rs10191329 risk allele in the DYSF–ZNF638 locus, which is implicated in central nervous system resilience rather than immune‐mediated pathology, is associated with retinal layer thinning, a biomarker of neuroaxonal damage in relapsing multiple sclerosis (RMS). Methods From a prospective observational study,
Gabriel Bsteh+22 more
wiley +1 more source
Optogenetics at cellular resolution [PDF]
A combination of restricting channel-rhodopsin to the soma and restricting the excitation volume with temporal focusing enables the mapping of neural circuits with high precision.
openaire +1 more source
Cytokine, Chemokine, and Neurofilament Light Chain Signatures in LGI1 Autoimmune Encephalitis
ABSTRACT Objectives To investigate the value of cytokine, chemokine, and neurofilament light chain (NfL) concentrations in predicting relapse risk, chronic epilepsy, and functional impairment in LGI1 autoimmune encephalitis (AE). Methods Cytokines/chemokines (IL‐1‐beta, IL‐2, IL‐4, IL‐5, IL‐6, IL‐8/CXCL8, IL‐10, IL‐12p70, IL‐13, IL‐17A, GM‐CSF, TNF ...
Albert Aboseif+17 more
wiley +1 more source
Real World Effectiveness and Tolerability of Novel Monoclonal Antibodies and Rituximab for NMOSD
ABSTRACT In this multicenter retrospective cohort study of 135 people with aquaporin‐4 IgG+ neuromyelitis optica spectrum disorder (NMOSD), some of whom were exposed to multiple therapies, we evaluated the effectiveness and tolerability of rituximab (n = 111) and novel monoclonal antibodies (nMAbs): eculizumab (n = 9), inebilizumab (n = 23), and ...
Zarmina Javed+9 more
wiley +1 more source
TBC1D24 interacts with the v-ATPase and regulates intraorganellar pH in neurons
Summary: The vacuolar ATPase (v-ATPase) is essential for acidification of intracellular organelles, including synaptic vesicles. Its activity is controlled by cycles of association and dissociation of the ATP hydrolysis (V1) and proton transport (V0 ...
Sara Pepe+10 more
doaj +1 more source
Zinc oxide nanoparticles: potential novel applications in cellular physiology, pathology, neurosciences and cancer research [PDF]
Senka Pantic+3 more
openalex +1 more source
Effects of Non‐Aspirin Nonsteroidal Anti‐Inflammatory Drugs on Acute Intracerebral Hemorrhage
ABSTRACT Objective Despite celecoxib, a cyclooxygenase‐2 inhibitor, promoting functional recovery from intracerebral hemorrhage (ICH) by reducing inflammation‐mediated perihematomal edema in rat models, the evidence of its effects on patient outcomes remains limited.
Shin‐Joe Yeh+3 more
wiley +1 more source