Results 71 to 80 of about 29,975,358 (298)

CMT2A Harboring Mitofusin 2 Mutation with Optic Nerve Atrophy and Normal Visual Acuity

International Medical Case Reports Journal, 2020
Silvana Guerriero,1 Francesco D’Oria,1 Giacomo Rossetti,2 Rosa Anna Favale,1 Stefano Zoccolella,1 Giovanni Alessio,1 Vittoria Petruzzella1 1Department of Medical Science, Neuroscience and Sense Organs, University of Bari Aldo Moro, Bari, Italy ...
Guerriero S, D'Oria F, Rossetti G, Favale RA, Zoccolella S, Alessio G, Petruzzella V   +6 more
doaj  

Changes of Radial Diffusivity and Fractional Anisotopy in the Optic Nerve and Optic Radiation of Glaucoma Patients

The Scientific World Journal, 2012
Purpose of this study was to evaluate with diffusion-tensor imaging (DTI) changes of radial diffusivity (RD) and fractional anisotropy (FA) in the optic nerve (ON) and optic radiation (OR) in glaucoma and to determine whether changes in RD and FA ...
Tobias Engelhorn, Georg Michelson, Simone Waerntges, Marlen Otto, Ahmed El-Rafei, Tobias Struffert, Arnd Doerfler   +6 more
doaj   +1 more source

Modern Technologies in the Examination of Patients with Optic Nerve Atrophy Due to Multiple Sclerosis

Oftalʹmologiâ, 2018
Purpose: to develop an algorithm for testing patients with optic nerve atrophy due to MS using microperimetry with the different functional disorders.Patients and Methods. There were 20 patients (40 eyes) with the correct diagnosis of MS at the age of 33
E. E. Ioyleva, M. S. Krivosheeva, E. Yu. Markova   +2 more
doaj   +1 more source

OPA1-Exon4b modulates the migration and invasion of hepatocellular carcinoma cells by ATP regulation

Mitochondrial Communications, 2023
Optic Atrophy 1 (OPA1), a mitochondrial inner protein, is involved in both mitochondrial fusion dynamic and cell apoptosis. OPA1 Exon4b (OPA1-Exon4b) was reported to be downregulated in hepatocellular carcinoma (HCC).
Haite Tang, Zhijuan Hu, Liang Yang, Zifeng Ruan, Hao Wang, Yunhao Zhou, Feixiang Bao, Xingguo Liu   +7 more
doaj   +1 more source

[18F]Fluorodeprenyl‐D2 PET as a Tool to Monitor Disease Activity in GAD65‐Ab Autoimmune Encephalitis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To evaluate [18F]fluorodeprenyl‐D2 ([18F]F‐DED) positron‐emission tomography (PET) imaging as a biomarker of disease activity in autoimmune encephalitis (AIE) associated with glutamic acid decarboxylase 65 (GAD65) antibodies. Methods [18F]F‐DED PET was performed in 25 GAD65‐AIE patients and 8 controls using dynamic (0–60 min) and ...
Julia S. Dorneich, Jonathan A. Gernert, Hanna Zimmermann, Lisa Tagnin, Marianthi Zeinaki, Laura Sanzo, Letizia Vogler, Elisabeth Kaufmann, Justina Dargvainiene, Frank Leypoldt, Gérard N. Bischof, Robert Perneczky, Boris‐Stephan Rauchmann, Simon Lindner, Günter U. Höglinger, Rudolf A. Werner, Martin Kerschensteiner, Tania Kümpfel, Matthias Brendel, Franziska S. Thaler   +19 more
wiley   +1 more source

Assessment and optimisation of MRI measures of atrophy as potential markers of disease progression in multiple sclerosis [PDF]

, 2008
There is a need for sensitive measures of disease progression in multiple sclerosis (MS) to monitor treatment effects and understand disease evolution. MRI measures of brain atrophy have been proposed for this purpose. This thesis investigates a number
Anderson, V.
core  

Differential response of skeletal muscles to mTORC1 signaling during atrophy and hypertrophy [PDF]

, 2013
BACKGROUND: Skeletal muscle mass is determined by the balance between protein synthesis and degradation. Mammalian target of rapamycin complex 1 (mTORC1) is a master regulator of protein translation and has been implicated in the control of muscle mass ...
Handschin, Christoph, Bentzinger, C. Florian, Guridi, Maitea, Castets, Perrine, Hall, Michael N, Tintignac, Lionel A., Hall, Michael N., Perrine Castets, Romanino, Klaas, Tintignac, Lionel, Rüegg, Markus A, Michael N Hall, Lin, Shuo, Markus A Rüegg, Bentzinger, C Florian, Christoph Handschin, Serge Summermatter, Summermatter, Serge, C Bentzinger, Klaas Romanino, Maitea Guridi, Shuo Lin, Rüegg, Markus A., Lionel A Tintignac   +23 more
core   +1 more source

GAD65 Antibody ELISA With Extended Reportable Range: Validation and Guidance for Neurological Practice

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To (1) validate GAD65‐ELISA detection and quantification for type 1 diabetes mellitus and autoimmune neurological diagnoses, (2) correlate ELISA results (reference range < 5 IU/mL) with established radioimmunoprecipitation assay (RIA; ≤ 0.02 nmol/L), and (3) define ELISA clinical utility and pitfalls.
Andrew McKeon, Dana Olofson, Diana Anissian, Divyanshu Dubey, Eoin P. Flanagan, Max C. Herman, Sarosh R. Irani, Daniel H. Lachance, Maria A. Willrich, Sean Pittock, John R. Mills, Anastasia Zekeridou   +11 more
wiley   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Mitochondrial Optic Atrophy (OPA) 1 Processing Is Altered in Response to Neonatal Hypoxic-Ischemic Brain Injury [PDF]

International Journal of Molecular Sciences, 2015
Perturbation of mitochondrial function and subsequent induction of cell death pathways are key hallmarks in neonatal hypoxic-ischemic (HI) injury, both in animal models and in term infants. Mitoprotective therapies therefore offer a new avenue for intervention for the babies who suffer life-long disabilities as a result of birth asphyxia.
Baburamani, Ana A, Hurling, Chloe, Stolp, Helen, Sobotka, Kristina, Gressens, Pierre, Hagberg, Henrik, Thornton, Claire   +6 more
openaire   +4 more sources