Results 81 to 90 of about 62,463 (295)
Optic Atrophy 1 Controls Human Neuronal Development by Preventing Aberrant Nuclear DNA Methylation [PDF]
SSRN Electronic Journal, 2019 Optic atrophy 1 (OPA1), a GTPase at the inner mitochondrial membrane involved in regulating mitochondrial fusion, stability and energy output, is known to be crucial for neural development: OPA1 heterozygous mice show abnormal brain development, and inactivating mutations in OPA1 are linked to human neurological disorders.
Safak Caglayan +14 more
openaire +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
, 2023 Supplemental material, sj-docx-1-ejo-10.1177_11206721231208244 for Association between optic atrophy 1 polymorphisms and primary open angle glaucoma risk: Based on a meta-analysis by Yue-Feng Liu, Xiang-Yu Luo, Zhi-Cai Zhao, Wu Zheng, Hai-Yang Lv and Wei-
Wu Zheng (375956) +5 more
core +1 more source
Spinal Muscular Atrophy Type 1 With Exon 8 Deletion and Bilateral Optic Atrophy [PDF]
Indian Pediatrics, 2020 Bijaylaxmi, Behera, Ajay, Kumar
openaire +2 more sources
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Cognitive decline is a disabling and variable feature of Parkinson disease (PD). While cholinergic system degeneration is linked to cognitive impairments in PD, most prior research reported cross‐sectional associations. We aimed to fill this gap by investigating whether baseline regional cerebral vesicular acetylcholine transporter ...
Taylor Brown +6 more
wiley +1 more source
Aetiological Profile of Optic Atrophy: A hospital based prospective study
, 2020 Objectives: This study was to evaluateclinical presentations and aetiological profiles of patients with optic atrophy.Methods:The patients had undergone complete ophthalmological examination, i.e.
Agrawal, Shilpi +5 more
core +1 more source
Molecular Genetics & Genomic Medicine, 2023 Background Biallelic pathogenic variants in the neuroblastoma‐amplified sequence (NBAS) gene manifest in a broad spectrum of disorders, including, but not limited to recurrent acute liver failure, skeletal dysmorphism, susceptibility to infections, and ...
Claudia S. Priglinger +7 more
doaj +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
, 2022 IntroductionDentatorubral-pallidoluysian atrophy (DRPLA) is an autosomal dominant neurodegenerative disease with various neurological manifestations. Corneal endothelial degeneration and optic atrophy have been reported separately; however, there are no ...
Shunya Takizawa (620402) +6 more
core +1 more source
Analyzing the ophthalmic red reflex test in children with congenital Zika syndrome [PDF]
Revista Brasileira de OftalmologiaObjective: To evaluate the red reflex test in children with congenital Zika syndrome in order to predict the occurrence of retinal lesion or optic nerve hypoplasia in these patients.
Marcia Beatriz Tartarella +8 more
doaj +1 more source