Results 71 to 80 of about 9,111,969 (279)

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

Refractive Accuracy of a Novel Swept-Source OCT in Patients With Short and Long Eyes

Purpose: To analyze the refractive accuracy of a novel swept-source optical coherence biometer (SS-OCT), that uses individual refractive indices to measure axial length, in short and long eyes implanted with monofocal intraocular lenses (IOLs). Methods:
Contreras, Inés, Rementería-Capelo, Laureano A., García-Pérez, Jorge L., Ruiz Alcocer, Javier   +3 more
core   +1 more source

Soft Eyes; Marxism, Surface, and Depth [PDF]

, 2017
This is the final version of the article. Available from the publisher via the DOI in this record.Drawing on Maurice Merleau-Ponty and Raymond Williams, Jason Baskin argues that the perceived divide between “surface” and “depth” models of reading ignores
Baskin, JM
core  

Advancing Age Modulates Associations Between Cognitive Impairment and Brain Volumes in Early MS

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction Cognitive impairment is common in multiple sclerosis (MS), but manifestations following the first demyelinating event are relatively unexplored. We investigated cross‐sectional associations between magnetic resonance imaging (MRI)–derived brain volumes and the presence of cognitive impairment outcomes five years after the first ...
Piriyankan Ananthavarathan, Marco Pitteri, Michael Foster, Sara Collorone, Sara Salama, Elisa Colato, Ferran Prados, Baris Kanber, Marios Yiannakas, Claudia A. M. Gandini Wheeler‐Kingshott, Indran Davagnanam, Frederik Barkhof, Declan Chard, Olga Ciccarelli, Ahmed Toosy   +14 more
wiley   +1 more source

Understanding Further the Phenotypic Spectrum of Central Nervous System Inflammatory Demyelinating Disorders Using Unsupervised Clustering

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Central nervous system (CNS) inflammatory demyelinating syndromes, including multiple sclerosis (MS), aquaporin‐4 antibody–positive neuromyelitis optica spectrum disorder (AQP4 + NMOSD), and myelin oligodendrocyte glycoprotein (MOG) antibody–associated disease (MOGAD), occasionally overlap.
Bade Gulec, Elif Everest, Melih Tutuncu, Ugur Bilge, Sabahattin Saip, Ugur Uygunoglu, Aksel Siva   +6 more
wiley   +1 more source

Ofatumumab in Myelin Oligodendrocyte Glycoprotein Antibody–Associated Disease: A Comparison With Rituximab

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To evaluate the efficacy and safety of ofatumumab in patients with myelin oligodendrocyte glycoprotein antibody–associated disease (MOGAD), and compare it with rituximab. Methods We conducted a single–center, observational study including 22 MOGAD patients treated with ofatumumab and 21 treated with rituximab.
Yuxin Fan, Lei Zhou, Jingzi ZhangBao, Hongmei Tan, Zhouzhou Wang, Chao Quan   +5 more
wiley   +1 more source

Face Inversion Disproportionately Disrupts Detection of Vertical versus Horizontal, Not Long-Range versus Short-Range, Spatial Relations

i-Perception, 2011
Presenting a face inverted disrupts sensitivity to the spacing between the features. Recent evidence suggests that inversion disproportionately affects sensitivity to vertical over horizontal changes in eye position.
Kate Crookes, William G. Hayward
doaj   +1 more source

Accuracy of new intraocular lens power calculation formula for short and long eyes using segmental refractive indices

Journal of cataract and refractive surgery
New IOL power calculation formulas using a segmental refractive index had less predictive refractive errors than conventional formulas especially for short eyes Purpose: To evaluate the accuracy of a new intraocular lens power calculation formula using ...
Yukihito Kato, Masahiko Ayaki, Akeno Tamaoki, Yoshiki Tanaka, Kei Ichikawa, Kazuo Ichikawa   +5 more
semanticscholar   +1 more source

Prodromal Lewy Body Disorder Features in REM Sleep Behavior Disorder With Biomarker‐Defined Synucleinopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Isolated rapid eye movement sleep behavior disorder (iRBD) is a prodromal state for Lewy body disorders and exhibits biological heterogeneity that may influence clinical expression and progression. We examined clinical features in individuals with iRBD and biomarker‐defined synucleinopathy.
Daniel Weintraub, Michele K. York, Roseanne Dobkin, Anuprita R. Nair, Ryan Kurth, David‐Erick Lafontant, Chelsea Caspell‐Garcia, Roy N. Alcalay, Ethan G. Brown, Lana M. Chahine, Christopher Coffey, Tatiana Foroud, Douglas Galasko, Karl Kieburtz, Kenneth Marek, Kalpana Merchant, Brit Mollenhauer, Kathleen L. Poston, Andrew Siderowf, Cristina Simonet, Tanya Simuni, Caroline M. Tanner, Thomas F. Tropea, Aleksandar Videnovic, The Parkinson's Progression Markers Initiative   +24 more
wiley   +1 more source

Incidence, clinical profile, and short-term outcomes of post-traumatic glaucoma in pediatric eyes

Indian Journal of Ophthalmology, 2019
Purpose: To report the incidence, modes of injury, treatment, and short-term outcomes in eyes with post-traumatic elevated intraocular pressure (IOP). Methods: This was a 5-year hospital-based retrospective study of children ≤16 years who presented with ...
Charudutt Kalamkar, Amrita Mukherjee
semanticscholar   +1 more source