Results 21 to 30 of about 5,744 (198)

Parasympathetic nervous system dysfunction, as identified by pupil light reflex, and its possible connection to hearing impairment [PDF]

, 2016
Context Although the pupil light reflex has been widely used as a clinical diagnostic tool for autonomic nervous system dysfunction, there is no systematic review available to summarize the evidence that the pupil light reflex is a sensitive method to ...
A Bakes, A de Vos, A Kaltsatou, A Keivanidou, A Liberati, A Morte, A Morte, A Shechter, A Tales, AA Zekveld, AA Zekveld, AA Zekveld, Adriana A. Zekveld, AI Vinik, AM Adlan, Artur Lorens, B Terluin, B Zahorska-Markiewicz, Barbara Ohlenforst, BC Davis, BL Seaward, BS McEwen, C Fernández, CB Hicks, CL Mackersie, D Hasson, D Hasson, D Purves, D Ramaekers, D Robertson, D Yarnitsky, D Yuan, DE Harle, DF Fotiou, DM Bittner, DM Bittner, DM Levy, E Giza, E Lensch, Elise P. Jansma, F Bremner, F Fotiou, F Perry, FD Bremner, G Hakerem, G Micieli, G Micieli, G Micieli, G Pozzessere, G Pozzessere, GL Ferrari, Graham Naylor, H Hotta, H Inoue, HK Ofte, I Leden, IE Loewenfeld, J Nachtegaal, JL Barbur, JR Stratton, K Yamaji, KC Horner, KE Bainbridge, KJ Bar, LL Thomsen, LS Rubin, M Dutsch, M Dutsch, M Pronk, M Rossi, M Yamada, MA Pfeifer, MA Pfeifer, MD Ross, N Kuroda, O Bergamin, O Bergamin, O Bumke, O Lowenstein, O Lowenstein, P Baum, P Bitsios, P Bitsios, P Calabresi, P Flachenecker, P Kang, P Lanting, PD Drummond, PJ Barendregt, PV Saraswathi, R Feinberg, RE Kleiger, RF Uhlmann, S Muppidi, S Nanas, S Usui, S. R. Steinhauer, SE Kramer, SE Kramer, SE Kramer, SJ Piha, SM Parikh, Sophia E. Kramer, SR Steinhauer, SR Steinhauer, Thomas Lunner, V Mylius, WH Zangemeister, WJ Strawbridge, X Fan, X Fan, X Fan, Yang Wang, Zoi Kapoula   +113 more
core   +4 more sources

The Alternative Choice of Constitutive Exons throughout Evolution [PDF]

, 2007
Alternative cassette exons are known to originate from two processes exonization of intronic sequences and exon shuffling. Herein, we suggest an additional mechanism by which constitutively spliced exons become alternative cassette exons during evolution.
Adi Doron-Faigenboim, Amir Goren, Eddo Kim, Galit Lev-Maor, Gil Ast, Hadas Keren, Lisa Stubbs, Noa Sela, Shelly Leibman-Barak, Tal Pupko   +9 more
core   +10 more sources

Human pluripotent stem cells as tools for high-throughput and high-content screening in drug discovery [PDF]

, 2015
A significant bottleneck in drug discovery is the lack of suitable models for sensitive, reliable, and rapid assessment of lead molecules in preclinical stages of drug discovery.
Allison, T.F., Andrews, P.W., Barbaric, I., Biga, V., Powles-Glover, N.S.   +4 more
core   +1 more source

Criteria for the diagnosis of corticobasal degeneration [PDF]

, 2013
Current criteria for the clinical diagnosis of pathologically confirmed corticobasal degeneration (CBD) no longer reflect the expanding understanding of this disease and its clinicopathologic correlations.
Armstrong, Melissa J, Bak, Thomas H, Bhatia, Kailash P, Borroni, Barbara, Boxer, Adam L, Dickson, Dennis W, Grossman, Murray, Hallett, Mark, Josephs, Keith A, Kertesz, Andrew, Lang, Anthony E, Lee, Suzee E, Litvan, Irene, Miller, Bruce L, Reich, Stephen G, Riley, David E, Tolosa, Eduardo, Tröster, Alexander I, Vidailhet, Marie, Weiner, William J   +19 more
core   +1 more source

Loss of Elp1 disrupts trigeminal ganglion neurodevelopment in a model of familial dysautonomia

eLife, 2022
Familial dysautonomia (FD) is a sensory and autonomic neuropathy caused by mutations in elongator complex protein 1 (ELP1). FD patients have small trigeminal nerves and impaired facial pain and temperature perception.
Carrie E Leonard, Jolie Quiros, Frances Lefcort, Lisa A Taneyhill   +3 more
doaj   +1 more source

Traumatic lingual ulceration in a newborn: Riga-Fede disease [PDF]

, 2012
Riga Fede disease is a reactive mucosal disease as a result of repetitive trauma of the tongue by the anterior primary teeth during forward and backward movement. Although the aspect of the lesion might be impressive, its nature is relatively benign. The
Erik H van der Meij, Henk F Eggink, Jan GAM de Visscher, Tjalling W de Vries   +3 more
core   +1 more source

The translational potential of human induced pluripotent stem cells for clinical neurology: The translational potential of hiPSCs in neurology [PDF]

, 2016
The induced pluripotent state represents a decade-old Nobel prize-winning discovery. Human-induced pluripotent stem cells (hiPSCs) are generated by the nuclear reprogramming of any somatic cell using a variety of established but evolving methods.
Devine, H, Patani, R
core   +1 more source

Elongator and codon bias regulate protein levels in mammalian peripheral neurons

Nature Communications, 2018
Familial dysautonomia is linked to mutations in IKBKAP, a scaffolding protein for the Elongator complex, which regulates codon-biased gene translation in yeast. Here the authors show in mammalian neurons that IKBKAP loss alters expression of codon-biased
Joy Goffena, Frances Lefcort, Yongqing Zhang, Elin Lehrmann, Marta Chaverra, Jehremy Felig, Joseph Walters, Richard Buksch, Kevin G. Becker, Lynn George   +9 more
doaj   +1 more source

An Inversion Disrupting FAM134B Is Associated with Sensory Neuropathy in the Border Collie Dog Breed [PDF]

, 2016
Sensory neuropathy in the Border Collie is a severe neurological disorder caused by the degeneration of sensory and, to a lesser extent, motor nerve cells with clinical signs starting between 2 and 7 months of age.
Beltran, E, De Risio, L, Forman, O P, Gutierrez-Quintana, R, Hitti, R J, Jenkins, C A, Mellersh, C, O'Brien, D P, Pettitt, L, Shelton, G D   +9 more
core   +4 more sources

Pathologic fracture of mandibular ramus in a patient with familial dysautonomia: A case report

Oral and Maxillofacial Surgery Cases
Familial dysautonomia is a rare disease that impairs the development of sensory nerves, afferent autonomic nerves, and afferent baroreflex pathways.
Patrick J. Nolan, David Koslovsky, Drew Roberts   +2 more
doaj   +1 more source