Influence of Multiple Anti-VEGF Injections on Retinal Nerve Fiber Layer and Ganglion Cell-Inner Plexiform Layer Thickness in Patients with Exudative Age-Related Macular Degeneration [PDF]
, 2023 Maja Živković +7 more
openalex +1 more source
Loss of vesicular dopamine release precedes tauopathy in degenerative dopaminergic neurons in a Drosophila model expressing human tau. [PDF]
, 2013 While a number of genome-wide association studies have identified microtubule-associated protein tau as a strong risk factor for Parkinson's disease (PD), little is known about the mechanism through which human tau can predispose an individual to this ...
Chang, Hui-Yun +6 more
core +2 more sources
Insights Into the Antigenic Repertoire of Unclassified Synaptic Antibodies
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective We sought to characterize the sixth most common finding in our neuroimmunological laboratory practice (tissue assay‐observed unclassified neural antibodies [UNAs]), combining protein microarray and phage immunoprecipitation sequencing (PhIP‐Seq). Methods Patient specimens (258; 133 serums; 125 CSF) meeting UNA criteria were profiled;
Michael Gilligan +22 more
wiley +1 more source
Cell-based therapies for traumatic optic neuropathy: Recent advances, challenges, and perspectives
Neural Regeneration ResearchTraumatic optic neuropathy is a form of optic neuropathy resulting from trauma. Its pathophysiological mechanisms involve primary and secondary injury phases, leading to progressive retinal ganglion cell loss and axonal degeneration. Contributing factors
Yuanhui Wang +3 more
doaj +1 more source
Clinical and molecular features and therapeutic perspectives of spinal muscular atrophy with respiratory distress type 1 [PDF]
, 2015 Spinal muscular atrophy with respiratory distress (SMARD1) is an autosomal recessive neuromuscular disease caused by mutations in the IGHMBP2 gene, encoding the immunoglobulin μ-binding protein 2, leading to motor neuron degeneration.
Corti, Stefania +4 more
core +2 more sources
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Pathogenic variants in KIF1C cause Spastic Paraplegia 58 (SPG58), typically presenting with cerebellar ataxia and spastic paraparesis. We report two unrelated patients with spastic paraparesis, cerebellar ataxia, and tremor. Whole‐exome sequence analysis identified novel homozygous variants in the motor domain of KIF1C (NM_006612.6): c.921G>A (
Akihiko Mitsutake +12 more
wiley +1 more source
Gene therapy targeting SARM1 blocks pathological axon degeneration in mice [PDF]
, 2019 Axonal degeneration (AxD) following nerve injury, chemotherapy, and in several neurological disorders is an active process driven by SARM1, an injury-activated NADase.
DiAntonio, Aaron +8 more
core +1 more source
Nanoscale correlated disorder in out-of-equilibrium myelin ultrastructure
, 2017 Ultrastructural fluctuations at nanoscale are fundamental to assess properties and functionalities of advanced out-of-equilibrium materials. We have taken myelin as a model of supramolecular assembly in out-of-equilibrium living matter.
Bianconi, Antonio +6 more
core +1 more source
A variable neurodegenerative phenotype with polymerase gamma mutation [PDF]
, 2009 mtDNA replication and repair, causes mitochondrial diseases including autosomal dominant progressive external ophthalmoplegia (PEO),1 childhood hepato-encephalopathy (Alpers– Huttenlocher syndrome), adult-onset spinocerebellar ataxia, and sensory nerve
Baruffini, E. +8 more
core +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective This study aims to identify both fluid and neuroimaging biomarkers for CSF1R‐RD that can inform the optimal timing of treatment administration to maximize therapeutic benefit, while also providing sensitive quantitative measurements to monitor disease progression.
Tomasz Chmiela +13 more
wiley +1 more source