Results 41 to 50 of about 77,061 (306)
Neurofilament phosphoforms: Surrogate markers for axonal injury, degeneration and loss [PDF]
, 2005 This review on the role of neurofilaments as surrogate markers for axonal degeneration in neurological diseases provides a brief background to protein synthesis, assembly, function and degeneration.
Petzold, A
core +1 more source
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
Visual impairment in mucopolysaccharidosis VI
JIMD Reports, 2023 Mucopolysaccharidosis (MPS) VI is a rare genetic disease characterized by deficient activity of N‐acetylgalactosamine 4‐sulfatase, leading to the systemic deposition of glycosaminoglycans.
Augusto Monteiro Magalhães +5 more
doaj +1 more source
Journal of Neurological Surgery Part B: Skull Base, 2021 AbstractA host of different types of direct and indirect, primary and secondary injuries can affect different portions of the optic nerve(s). Thus, in the setting of penetrating as well as nonpenetrating head or facial trauma, a high index of suspicion should be maintained for the possibility of the presence of traumatic optic neuropathy (TON).
openaire +3 more sources
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Peripheral neuropathies contribute to patient disability but may be diagnosed late or missed altogether due to late referral, limitation of current diagnostic methods and lack of specialized testing facilities. To address this clinical gap, we developed NeuropathAI, an interpretable deep learning–based multiclass classification ...
Chaima Ben Rabah +7 more
wiley +1 more source
Neural Regeneration Research, 2016 Ethambutol is a common cause of drug-related optic neuropathy. Prediction of the onset of ethambutol-induced optic neuropathy and consequent drug withdrawal may be an effective method to stop visual loss.
Chun-xia Peng +6 more
doaj +1 more source
Journal of Ophthalmology, 2022 Purpose. To show the clinical characteristics, identify the magnetic resonance imaging (MRI) and optical coherence tomography (OCT) features, and observe the visual outcome of methanol-induced optic neuropathy. Methods. Clinical data were retrospectively
Qiao Sun +7 more
doaj +1 more source
Complementation between mouse Mfn1 and Mfn2 protects mitochondrial fusion defects caused by CMT2A disease mutations [PDF]
, 2007 Mfn2, an oligomeric mitochondrial protein important for mitochondrial fusion, is mutated in Charcot-Marie-Tooth disease (CMT) type 2A, a peripheral neuropathy characterized by axonal degeneration.
Chan, David C., Detmer, Scott A.
core +2 more sources
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi +2 more
wiley +1 more source
Medical Journal of Dr. D.Y. Patil University, 2014 Pseudo-Foster Kennedy Syndrome is described as unilateral optic disc swelling with contra lateral optic atrophy in the absence of an intracranial mass causing compression of the optic nerve.
Kavita R Bhatnagar +3 more
doaj +1 more source