Results 111 to 120 of about 10,983,225 (406)

Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large‐Scale Exome Sequencing

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Dystonia is one of the most prevalent movement disorders, characterized by significant clinical and etiological heterogeneity. Despite considerable heritability (~25%), the etiology in most patients remains elusive. Moreover, understanding correlations between clinical manifestations and genetic variants has become increasingly ...
Mirja Thomsen, Fabian Ott, Sebastian Loens, Gamze Kilic‐Berkmen, Ai Huey Tan, Shen‐Yang Lim, Ebba Lohmann, Kaja M. Schröder, Lea Ipsen, Lena A. Nothacker, Linn Welzel, Alexandra S. Rudnik, Frauke Hinrichs, Thorsten Odorfer, Kirsten E. Zeuner, Friederike Schumann, Andrea A. Kühn, Simone Zittel, Marius Moeller, Robert Pfister, Christoph Kamm, Anthony E. Lang, Yi Wen Tay, Ana Luísa de Almeida Marcelino, Marie Vidailhet, Emmanuel Roze, Joel S. Perlmutter, Jeanne S. Feuerstein, Victor S. C. Fung, Florence Chang, Richard L. Barbano, Steven Bellows, Aparna A. Wagle Shukla, Alberto J. Espay, Mark S. LeDoux, Brian D. Berman, Stephen Reich, Andres Deik, Andre Franke, Michael Wittig, Sören Franzenburg, Jens Volkmann, Norbert Brüggemann, H. A. Jinnah, Tobias Bäumer, Christine Klein, Hauke Busch, Katja Lohmann   +47 more
wiley   +1 more source

Microorganisms and Common Ophthalmic Diseases [PDF]

, 2017
The human eye is in constant contact to environmental conditions that increase its likelihood in being exposed to a multitude of pathogens. Studies have revealed that the normal microbial flora found around the ocular area contribute to the well-being of
Su CW, Tighe S
core   +1 more source

Manual of the Diseases of the Eye

Southern Medical Journal, 1906
Includes index. ; Mode of access: Internet.
openaire   +1 more source

MANUAL OF DISEASES OF THE EYE [PDF]

The American Journal of the Medical Sciences, 1917
n ...
openaire   +3 more sources

The Diagnostic Value of Visual Evoked Potentials in Chronic Disorders of Consciousness

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective In chronic disorders of consciousness (DOCs), the distinction between vegetative state/unresponsive wakefulness syndrome (VS/UWS) and minimally conscious state (MCS) is as crucial as it is challenging. Evoked potentials (EPs) and event‐related potentials (ERPs) are helpful, but some limitations prevent their consistent use in the ...
Letizia Clementi, Francesca Giulia Magnani, Filippo Barbadoro, Camilla Ippoliti, Martina Cacciatore, Davide Sattin, Valeria Pingue, Benedetta Cazzulani, Jorge Navarro, Elena Schiaffi, Laura Grigoletti, Cristina Rosazza, Anna Nigri, Matilde Leonardi, Davide Rossi Sebastiano   +14 more
wiley   +1 more source

Different patterns of myopia prevalence and progression between internal migrant and local resident school children in Shanghai, China: a 2-year cohort study

BMC Ophthalmology, 2018
Background In 2010, there were ~ 36 million migrant children under 18 y old in China. This study compared patterns of myopia prevalence and progression between migrant and resident children. Methods Eight hundred forty-two migrant children from 2 migrant
Yingyan Ma, Senlin Lin, Jianfeng Zhu, Xun Xu, Lina Lu, Rong Zhao, Huijuan Zhao, Qiangqiang Li, Zhiyuan Hou, Xiangui He, Haidong Zou   +10 more
doaj   +1 more source

Potential Role of Oxidative Stress in Ocular Surface Inflammation and Dry Eye Disease.

Investigative Ophthalmology and Visual Science, 2018
Reactive oxygen species (ROS) are produced as a by-product during the mitochondrial respiration of the oxygen and potentially able to damage the tissues. Oxidative stress occurs as a result of the disruption of the balance between the anti-oxidant system
M. Doğru, Takashi Kojima, Cem Şimşek, K. Tsubota   +3 more
semanticscholar   +1 more source

Relevance of Kappa and Lambda Free Light Chains in Autoimmune Astrocytopathy Associated With Anti‐GFAP Antibodies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction The kappa‐free light chain (κ‐FLC) index is known to be highly sensitive and specific for diagnosing multiple sclerosis (MS), while little is understood about lambda (λ)‐FLC. This study assessed the κ‐FLC and λ‐FLC indices in autoimmune glial fibrillary acidic protein (GFAP) astrocytopathy.
Michael Levraut, Romain Marignier, Mikael Cohen, Jeanne Benoit, Cassandre Landes‐Chateau, Elisabeth Maillart, Marion Cremoni, Barbara Seitz‐Polski, Anne‐Laurie Pinto, Pauline Dumez, Jérôme Honnorat, Christine Lebrun‐Frenay   +11 more
wiley   +1 more source

Comparison of various methods to delineate blood vessels in retinal images [PDF]

, 2005
The blood vessels in the human retina are easily visualisable via digital fundus photography and provide an excellent window to the health of a patient affected by diseases of blood circulation such as diabetes.
Cesar, R.M., Jr., Cornforth, D.J., Cree, Michael J., Jelinek, H.F., Leandro, J.J.G., Soares, J.V.B., Tang, G.   +6 more
core  

BCS1L‐Associated Disease: 5′‐UTR Variant Shifts the Phenotype Towards Axonal Neuropathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives To investigate the consequences of a pathogenic missense variant (c.838C>T; p.L280F) and a 5′‐UTR regulatory variant (c.‐122G>T) in BCS1L on disease pathogenesis and to understand how regulatory variants influence disease severity and clinical presentation.
Rotem Orbach, Nunziata Maio, Russell J. Butterfield, A. Reghan Foley, Sarah Silverstein, Yan Li, Katherine Chao, Tanya J. Lehky, Abigail Potticary, Tracey A. Rouault, Sandra Donkervoort, Carsten G. Bönnemann   +11 more
wiley   +1 more source