Results 71 to 80 of about 946,105 (288)

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

Dissociation of phantom limb phenomena from stump tactile spatial acuity and sensory thresholds [PDF]

, 2005
Most amputees experience phantom limb sensations and/or phantom limb pain as well as residual limb (stump) pain that are resistant to treatment. Phantom phenomena are not homogeneous; each patient presents with a unique combination of spontaneous or ...
Katz, Joel, Hunter, Judith P., Davis, Karen   +2 more
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

Sensory Competition in the Face Processing Areas of the Human Brain [PDF]

, 2011
The concurrent presentation of multiple stimuli in the visual field may trigger mutually suppressive interactions throughout the ventral visual stream.
Krisztina Nagy, Gyula Kovács, Mark W. Greenlee, Nagy, Krisztina, Mark W Greenlee, Greenlee, Mark W., Kovács, Gyula   +6 more
core   +2 more sources

Identifying Ovarian Cancer-Associated EV mRNA Expression Profiles Using Unsupervised Machine Learning and Non-Negative Matrix Factorization

Bioengineering
Extracellular vesicle (EV) transcriptomic data provides a high-dimensional representation of cellular states but remains challenging to interpret due to noise, redundancy, and limited sample sizes. Most existing approaches rely on supervised differential
Rama Krishna Thelagathoti, Chao Jiang, Dinesh S. Chandel, Wesley A. Tom, Cleo Sarmiento, Appolinaire Olou, Gary Krzyzanowski, M. Rohan Fernando   +7 more
doaj   +1 more source

Acetylcholine Regulates Olfactory Perceptual Learning through Effects on Adult Neurogenesis

iScience, 2019
Summary: Learning to perceptually discriminate between chemical signals in the environment (olfactory perceptual learning [OPL]) is critical for survival.
Arielle Schilit Nitenson, Gabriela Manzano Nieves, Devon Lynn Poeta, Ryan Bahar, Carolyn Rachofsky, Nathalie Mandairon, Kevin G. Bath   +6 more
doaj   +1 more source

Prognostic Value of Neurofilament Light Chain and Glial Fibrillary Acidic Protein in ALD‐Related Myelopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background X‐linked adrenoleukodystrophy (X‐ALD) is a neurometabolic disorder caused by pathogenic variants in ABCD1, leading to slowly progressive spinal cord disease in nearly all affected men. Sensitive biomarkers to quantify disease severity and predict progression are needed for clinical care and trial design.
Eda G. Kabak, Marije M. C. Voermans, Hans Heijst, Charlotte E. Teunissen, Marc Engelen   +4 more
wiley   +1 more source

The role of the fern test in the treatment of rhinitis

Revista Alergia México, 2019
Background: The fern test is a method for assessing the characteristics of the nasal section in the treatment of patients with mucous dysfunction of the airway.
Matteo Gelardi, Giuseppe Porro, Nicola Quaranta, Brigida Sterlicchio, Michela Silvestri, Giorgio Ciprandi   +5 more
doaj   +1 more source

Added Prognostic Value of EEG Reactivity in Comatose Patients Following Cardiac Arrest

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives To evaluate the added prognostic value of EEG reactivity for favorable outcome compared with background analysis during and after targeted temperature management (TTM). Methods Prospective observational cohort study of comatose post–cardiac arrest patients admitted to a single academic center between 2017 and 2022, all undergoing ...
Sarah Caroyer, Marie Obrecht, Charlotte de Maeseneire, Charlotte Damien, Chantal Depondt, Lorenzo Ferlini, Estelle Rikir, Filippo Annoni, Fabio Silvio Taccone, Nicolas Mavroudakis, Benjamin Legros, Nicolas Gaspard   +11 more
wiley   +1 more source

A functional role for small-conductance calcium-activated potassium channels in sensory pathways including nociceptive processes [PDF]

, 2005
We investigated the role of small-conductance calcium-activated potassium (SK) and intermediate-conductance calcium-activated potassium channels in modulating sensory transmission from peripheral afferents into the rat spinal cord.
Jowett, AJ, Bahia, PK, Benton, DCH, Moss, GWJ, Suzuki, R, Chen, MX, Trezise, DJ, Dickenson, AH   +7 more
core