Results 111 to 120 of about 317,299 (224)

UDP‐glucose dehydrogenase variants cause dystroglycanopathy

Annals of Clinical and Translational Neurology, EarlyView.
Abstract UDP‐glucose dehydrogenase (UGDH) variants have been associated with hypotonia, developmental delay, and epilepsy. We report the first pathologic evidence of dystroglycanopathy in siblings with UGDH variants. Both presented around 6 months with developmental delay and elevated creatinine kinase.
Anna M. Reelfs, Carrie M. Stephan, Theresa M. Czech, Mary O. Cox, Soumya Joseph, Benjamin W. Darbro, Steven A. Moore, Kevin P. Campbell, Katherine D. Mathews   +8 more
wiley   +1 more source

A Study on the Ocular Infection with Rabies Virus in Mouse

Journal of Medical Microbiology and Infectious Diseases, 2014
Introduction: The most common mode of rabies virus transmission is through a bite wound or contact of broken skin with saliva of a rabid animal. Various other routes of virus transmission include exposure of mucous membranes (i.e.
Atefeh Pilehvar Zavareh, Mohammadreza Mahzounieh, Mohammadreza Shirzadi, Rouzbeh Bashar, Alireza Zavareh, Nader Howaizi, Firuzeh Farahtaj, Alireza Janani, Alireza Gholami   +8 more
doaj  

Patterns of Signal Intensity in CISS MRI of the Inner Ear and Eye

Tomography
Background: Constructive interference in steady state (CISS) is a gradient echo magnetic resonance imaging (MRI) pulse sequence that provides excellent contrast between cerebrospinal fluid and adjacent structures but is prone to banding artifacts due to ...
Antonia Mair, Christopher I. Song, Bela Büki, Bryan K. Ward   +3 more
doaj   +1 more source

DiffEyeSyn: Diffusion-based User-specific Eye Movement Synthesis [PDF]

arXiv
High-frequency components in eye gaze data contain user-specific information promising for various applications, but existing gaze modelling methods focus on low frequencies of typically not more than 30 Hz. We present DiffEyeSyn -- the first computational method to synthesise high-frequency gaze data, including eye movement characteristics specific to
arxiv  

The Action of Eserine upon the Eye Following the Use of Atropine [PDF]

, 1950
Christopher R. Jackson
openalex   +1 more source

Novel Phenotypes and Deep Intronic Variant Expand TH‐Associated Dopa‐Responsive Dystonia Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Approximately 20% of dopa‐responsive dystonia (DRD) cases remain genetically unresolved. Using whole‐genome sequencing, we identified two TH variants in a young DRD patient, including a novel deep intronic variant. Minigene assays confirmed that this variant causes aberrant splicing.
Xiaosheng Zheng, Chenxin Ying, Nan Jin, Jinghong Ma, Xinhua Wan, Xunhua Li, Wei Luo   +6 more
wiley   +1 more source

The Effects of the Coating and Aging of Biodegradable Polylactic Acid Membranes on In Vitro Primary Human Retinal Pigment Epithelium Cells

Biomedicines
Age-related macular degeneration (AMD) is the most frequent cause of blindness in developed countries. The replacement of dysfunctional human retinal pigment epithelium (hRPE) cells by the transplantation of in vitro-cultivated hRPE cells to the affected
Georgina Faura, Hana Studenovska, David Sekac, Zdenka Ellederova, Goran Petrovski, Lars Eide   +5 more
doaj   +1 more source

FGF14 GAA Intronic Expansion in Unsolved Adult‐Onset Ataxia in the Care4Rare Canada Consortium

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Spinocerebellar ataxias (SCA) represent a clinically and genetically heterogeneous group of progressive neurodegenerative diseases with prominent cerebellar atrophy. Recently, a novel pathogenic repeat expansion in intron 1 of FGF14 was identified, causing adult‐onset SCA (SCA27B). We aimed to determine the proportion
Alexanne Cuillerier, Giulia F. Del Gobbo, Layla Mackay, Erika Wall, Madeline Couse, Laura M. McDonell, Mireille Cloutier, Matt C. Danzi, Jodi Warman‐Chardon, Pierre R. Bourque, Oksana Suchowersky, Alan Mears, Luke Seldenthuis, Wendy Mears, Laura Larrigan, Alexandre White‐Brown, Gerald Pfeffer, Dennis E. Bulman, David Dyment, Care4Rare Canada Consortium, Kym M. Boycott   +20 more
wiley   +1 more source

Lizard visual ecology

Frontiers in Amphibian and Reptile Science
Visual ecology is the study of how visual systems are evolutionarily adapted to the light conditions animals experience and the visual tasks they must perform. The greatest progress in this field has been made in studies of aquatic systems.
Leo J. Fleishman
doaj   +1 more source

The Pineal Eye in Tritylodon [PDF]

, 1887
Henry F. Osborn
openalex   +1 more source