Results 61 to 70 of about 135,611 (344)
Pathogenic Neurofibromatosis type 1 gene variants in tumors of non‐NF1 patients and role of R1276
FEBS Open Bio, EarlyView.Somatic variants of the neurofibromatosis type 1 (NF1) gene occur across neoplasms without clinical manifestation of the disease NF1. We identified emerging somatic pathogenic NF1 variants and hotspots, for example, at the arginine finger 1276. Those missense variants provide fundamental information about neurofibromin's role in cancer.
Mareike Selig +7 more
wiley +1 more source
Microscopic Inner Retinal Hyper-reflective Phenotypes in Retinal and Neurologic Disease [PDF]
, 2014 Purpose. We surveyed inner retinal microscopic features in retinal and neurologic disease using a reflectance confocal adaptive optics scanning light ophthalmoscope (AOSLO). Methods. Inner retinal images from 101 subjects affected by one of 38 retinal or
Carroll, Joseph +9 more
core +2 more sources
FEBS Open Bio, EarlyView.Metformin mediates mitochondrial quality control in Leber's hereditary optic neuropathy (LHON) fibroblasts carrying mtDNA mutations. At therapeutic levels, metformin activates AMPK signaling to restore mitochondrial dynamics by promoting fusion and restraining fission, while preserving mitochondrial mass, enhancing autophagy/mitophagy and biogenesis ...
Chatnapa Panusatid +3 more
wiley +1 more source
Comparative lipid profiling dataset of the inflammation-induced optic nerve regeneration. [PDF]
, 2019 In adult mammals, retinal ganglion cells (RGCs) fail to regenerate following damage. As a result, RGCs die after acute injury and in progressive degenerative diseases such as glaucoma; this can lead to permanent vision loss and, eventually, blindness ...
Bhattacharya, Sanjoy K +5 more
core +1 more source
Annals of Clinical and Translational Neurology, EarlyView.Longitudinal changes in salivary biomarkers in Parkinson’s disease (PD) from early (T0) to 4‐year follow‐up (T1), quantified by ELISA: oligomeric and total α‐synuclein, total and phosphorylated tau, MAP1LC3B (autophagy), and TNFa (inflammation). Blue arrows indicate direction of change at T1 vs T0 (up = increase; down = decrease).
Maria Ilenia De Bartolo +13 more
wiley +1 more source
Automated pupillometry and optic nerve sheath diameter ultrasound to define tuberculous meningitis disease severity and prognosis [PDF]
, 2023 Flora Casey +7 more
openalex +1 more source
Characteristics of Cerebral Palsy in the Midwestern US
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Cerebral palsy (CP) is the most common lifelong motor disability worldwide. Yet, data is limited on how CP manifests in the US. Our objective was to characterize and determine factors affecting functional outcomes in a large population of young people with CP in the Midwestern US.
Susie Kim +6 more
wiley +1 more source
TRPV1 Tunes Optic Nerve Axon Excitability in Glaucoma
Frontiers in Physiology, 2020 The transient receptor potential vanilloid member 1 (TRPV1) in the central nervous system may contribute to homeostatic plasticity by regulating intracellular Ca2+, which becomes unbalanced in age-related neurodegenerative diseases, including Alzheimer’s
Nolan R. McGrady +3 more
doaj +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Cognitive impairment, fatigue, and depression are common in multiple sclerosis (MS), potentially due to disruption of regional functional connectivity caused by white matter (WM) lesions. We explored whether WM lesions functionally connected to specific brain regions contribute to these MS‐related manifestations.
Alessandro Franceschini +7 more
wiley +1 more source
Developmental hypomyelination in Wolfram syndrome: New insights from neuroimaging and gene expression analyses [PDF]
, 2019 Wolfram syndrome is a rare multisystem disorder caused by mutations in WFS1 or CISD2 genes leading to brain structural abnormalities and neurological symptoms. These abnormalities appear in early stages of the disease.
Dougherty, Joseph +7 more
core +1 more source