Results 121 to 130 of about 2,962,455 (275)

Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Familial dysautonomia (FD) is a hereditary neurodevelopmental disorder caused by aberrant splicing of the ELP1 gene, leading to a tissue‐specific reduction in ELP1 protein expression. Preclinical models indicate that increasing ELP1 levels can mitigate disease manifestations.
Alejandra González‐Duarte, Lucy Norcliffe‐Kaufmann, Maria Luisa Cotrina, Zenith Khan, Kaia Dalamo, Patricio Millar Vernetti, Matthew Lawless, Elisabetta Morini, Monica Salani, Marla Weetall, Jana Narasimhan, Agostino G. Rocha, Susan A. Slaugenhaupt, Horacio Kaufmann   +13 more
wiley   +1 more source

Prediction of Myasthenia Gravis Worsening: A Machine Learning Algorithm Using Wearables and Patient‐Reported Measures

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Myasthenia gravis (MG) is a rare disorder characterized by fluctuating muscle weakness with potential life‐threatening crises. Timely interventions may be delayed by limited access to care and fragmented documentation. Our objective was to develop predictive algorithms for MG deterioration using multimodal telemedicine data ...
Maike Stein, Haoqi Sun, Sophie Lehnerer, Lea Gerischer, Maximilian Mönch, Christian Meisel, Andreas Meisel, Pushpa Narayanaswami   +7 more
wiley   +1 more source

Acoustic Measures Capture Speech Dysfunction in Spinocerebellar Ataxia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinocerebellar ataxias (SCA) are hereditary cerebellar degenerative disorders with a common feature of dysarthria, involving impaired phonatory and articulatory control of speech, thereby affecting social communication. In this study, we investigated whether acoustic measures could objectively measure speech dysfunction and identify
Zena Fadel, Charlotte Hennessey, Hannah Lee, Pia Parekh, Sheng‐Han Kuo, Ami Kumar   +5 more
wiley   +1 more source

Association of Corticospinal Tract Asymmetry With Ambulatory Ability After Intracerebral Hemorrhage

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Ambulatory ability after intracerebral hemorrhage (ICH) is important to patients. We tested whether asymmetry between ipsi‐ and contra‐lesional corticospinal tracts (CSTs) assessed by diffusion tensor imaging (DTI) is associated with post‐ICH ambulation.
Yasmin N. Aziz, Carl D. Langefeld, Mary E. Comeau, Miranda C. Marion, Tyler P. Behymer, Lee A. Gilkerson, Padmini Sekar, Weihong Yuan, Vivek Khandwala, Brady J. Williamson, Thomas Maloney, Achala Vagal, Pierce Boyne, Kari Dunning, Matthew L. Flaherty, Steven J. Kittner, Prachi Mehndiratta, Gunjan Y. Parikh, Michael L. James, David Roh, Fernando D. Testai, Farhaan S. Vahidy, James Thornton, Ranjit Bagga, Daniel Woo, Stacie L. Demel   +25 more
wiley   +1 more source

Prevalence of somatosensory tinnitus in individuals with tinnitus

The Egyptian Journal of Otolaryngology
Background Somatosensory tinnitus is a form of tinnitus that can be influenced or triggered by sensory, motor, and visual-motor systems. This study aimed to estimate the prevalence of somatosensory tinnitus in individuals with tinnitus using a rapid ...
Manya Fangaria, Ashwini Tidole, Kamalakannan Karupaiah, Nireeksha Mukunda Bhagyalakshmi, Bhargavi Kantharaju, Sneha Uttakalika, Prashanth Prabhu   +6 more
doaj   +1 more source

Age‐Related Characteristics of SYT1‐Associated Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives We describe the clinical manifestations and developmental abilities of individuals with SYT1‐associated neurodevelopmental disorder (Baker‐Gordon syndrome) from infancy to adulthood. We further describe the neuroradiological and electrophysiological characteristics of the condition at different ages, and explore the associations ...
Sam G. Norwitz, Josefine Eck, Joel S. Winston, Kate Baker   +3 more
wiley   +1 more source

Effect of 6-Min Mastication Test on Masticatory Function in Young Versus Older Adults: A Comparative SEMG Study

The Scientific World Journal
Conclusion: The study demonstrated that masseter muscle activity significantly declines with age, with large effect sizes observed for all the parameters.
Uzair Chilwan, Sahlah Shameer, Aysha Hanan, Radish Kumar Balasubramanium   +3 more
doaj   +1 more source

Functional Connectivity Linked to Cognitive Recovery After Minor Stroke

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Patients with minor stroke exhibit slowed processing speed and generalized alterations in functional connectivity involving frontoparietal cortex (FPC). The pattern of connectivity evolves over time. In this study, we examine the relationship of functional connectivity patterns to cognitive performance, to determine ...
Vrishab Commuri, Isabella Dallasta, Ciaran Stone, Sophia Girgenti, Neda Gould, Rafael H. Llinas, Jonathan Z. Simon, Elisabeth Breese Marsh   +7 more
wiley   +1 more source

Lessons Learned From a Delayed‐Start Trial of Modafinil for Freezing of Gait in Parkinson's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Freezing of gait (FOG) in people with Parkinson's disease (PwPD) is debilitating and has limited treatments. Modafinil modulates beta/gamma band activity in the pedunculopontine nucleus (PPN), like PPN deep brain stimulation. We therefore tested the hypothesis that Modafinil would improve FOG in PwPD.
Tuhin Virmani, Lakshmi Pillai, Reid D. Landes, Aliyah Glover, Shannon Doerhoff, Jennifer Kleiner, Mitesh Lotia, Rohit Dhall, Edgar Garcia‐Rill   +8 more
wiley   +1 more source

Life‐Threatening Bradycardia in Anti‐NMDA‐Receptor Encephalitis and a Novel Use for Permanent Pacing

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Pediatric anti‐NMDA receptor encephalitis (pNMDARE) is an autoantibody‐mediated disorder that can cause severe autonomic dysfunction, including symptomatic bradycardia and asystole. Dysautonomia can last for years, making it very challenging to manage.
Sarah Tucker, Abhijit Das, Andres Jimenez, Areeba Basit, Yike Jiang, Emily A. Smitherman, Heather Van Mater, Taylor Howard, Alexander J. Sandweiss, Kristen S. Fisher   +9 more
wiley   +1 more source