Results 121 to 130 of about 29,975,358 (298)

Optic Atrophy

, 2020
Dr.
Andrew G. Lee, MD; Carolyn Brooks
core  

Wolfram Syndrome: A Case Report and Review of Clinical Manifestations, Genetics Pathophysiology, and Potential Therapies

Case Reports in Endocrinology, 2018
Background. Classical Wolfram syndrome (WS) is a rare autosomal recessive disorder caused by mutations in WFS1, a gene implicated in endoplasmic reticulum (ER) and mitochondrial function.
N. B. Toppings, J. M. McMillan, P. Y. B. Au, O. Suchowersky, L. E. Donovan   +4 more
doaj   +1 more source

Does Disruption of Optic Atrophy-1 (OPA1) Contribute to Cell Death in HL-1 Cardiomyocytes Subjected to Lethal Ischemia-Reperfusion Injury? [PDF]

Cells, 2022
Kulek AR, Undyala VVR, Anzell AR, Raghunayakula S, MacMillan-Crow LA, Sanderson TH, Przyklenk K.   +6 more
europepmc   +1 more source

Association Between Neurofilament Light Chain and Real‐World Ambulatory Function in Progressive MS

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neurofilament light chain (NfL) is a biomarker of neuroaxonal injury in multiple sclerosis (MS), yet associations with functional outcomes remain unclear. Longitudinal associations between serum NfL (sNfL) and daily step count (STEPS) from wearable devices were assessed in a large international progressive MS cohort.
Gabby B. Joseph, Megan McCune, Riley Bove, Ahmed Abdelhak, Bruce A. C. Cree, Valerie J. Block   +5 more
wiley   +1 more source

Mutation survey of the optic atrophy 1 gene in 193 Chinese families with suspected hereditary optic neuropathy.

Molecular vision, 2013
Dominant optic atrophy (DOA) is the most common form of autosomal inherited optic neuropathy, mainly caused by mutations in the optic atrophy 1 (OPA1) gene. The purpose of this study was to detect OPA1 gene mutations and associated phenotypes in Chinese patients with suspected hereditary optic neuropathy.A cohort of 193 Chinese families with suspected ...
Yabin, Chen, Xiaoyun, Jia, Panfeng, Wang, Xueshan, Xiao, Shiqiang, Li, Xiangming, Guo, Qingjiong, Zhang   +6 more
openaire   +1 more source

A Novel KCNA1 Variant in a Patient With Tremor and Autism Spectrum Disorder Causes Mixed LOF/GOF Defects of Kv1.1 Channels

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Variants in KCNA1, encoding the Kv1.1 potassium channel, cause neurological disorders including episodic ataxia and developmental and epileptic encephalopathy. We identified a novel KCNA1 variant (A401T) in a 16‐year‐old patient with autism spectrum disorder, borderline intellectual disability, and tremor, without episodic ataxia or epilepsy ...
Juan Darío Ortigoza‐Escobar, Laura Marti‐Sánchez, Loreto Martorell, Giorgia Dinoi, Antonio Vittorio Buono, Annamaria De Luca, Antonella Liantonio, Paola Imbrici   +7 more
wiley   +1 more source

[Long noncoding RNA H19 promotes vascular calcification by repressing the Bax inhibitor 1/optic atrophy 1 pathway]. [PDF]

Nan Fang Yi Ke Da Xue Xue Bao, 2023
Chen W, DU H, Sha Y, Zhou Y, Liang J, Chen Y, Ma Q, Wu X, Qian G.   +8 more
europepmc   +1 more source

Obesity Subtypes and Longitudinal Trajectories of Function Over Seven Years of Follow‐Up: Data From the Multicenter Osteoarthritis Study

Arthritis Care &Research, EarlyView.
Objective Obesity, defined by body mass index (BMI) ≥30 kg/m2, is a risk factor for functional limitations in people with knee osteoarthritis (OA). However, function varies among such individuals. Our objective was to evaluate the implications of obesity subtypes on longitudinal patterns of physical functioning in people with or at risk for knee OA ...
Kristine Godziuk, Sarah Tilley, Michael LaValley, Michael C. Nevitt, Cora E. Lewis, James C. Torner, Tuhina Neogi, for the Multicenter Osteoarthritis Study Group   +7 more
wiley   +1 more source

Protective Effect of Optic Atrophy 1 on Cardiomyocyte Oxidative Stress: Roles of Mitophagy, Mitochondrial Fission, and MAPK/ERK Signaling. [PDF]

Oxid Med Cell Longev, 2021
Wang Y, Han Z, Xu Z, Zhang J.
europepmc   +1 more source

Current Status and Challenges in Data Collection for Aerospace Coatings Deposited by Plasma Spraying

Advanced Engineering Materials, EarlyView.
An innovative approach has been integrated into the GRENAT project to optimize plasma spraying and coating performance. Raw materials are accelerated and melted in the plasma generated by torches, creating coatings. Monitoring sensors collect process data which are combined with ex situ characterization data.
Lila Randriamananjara, Vincent Rat, Quentin Dubreuil, Patrice Valorge, Simon Goutier, Alain Denoirjean, Olivier Messe, Céline Ruelle, Jean‐Philippe Poli   +8 more
wiley   +1 more source