Results 121 to 130 of about 13,607,564 (266)

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

Post‐COVID Fatigue Is Associated With Reduced Cortical Thickness After Hospitalization

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neuropsychiatric symptoms are among the most prevalent sequelae of COVID‐19, particularly among hospitalized patients. Recent research has identified volumetric brain changes associated with COVID‐19. However, it currently remains poorly understood how brain changes relate to post‐COVID fatigue and cognitive deficits.
Tim J. Hartung, Florentin Steigerwald, Amy Romanello, Cathrin Kodde, Matthias Endres, Sandra Frank, Peter Heuschmann, Philipp Koehler, Stephan Krohn, Daniel Pape, Jens Schaller, Sophia Stöcklein, Istvan Vadasz, Janne Vehreschild, Martin Witzenrath, Thomas Zoller, Carsten Finke, on behalf of the NAPKON Study Group, Y. Ahlgrimm, C. Finke, J. Fricke, T. Keil, L. Krist, N. Lisewsky, M. Mittermaier, M. Mueller‐Plathe, C. Pley, S. Schmidt, A. Stege, F. Steinbeis, S. Steinbrecher, C. Wildberg, M. Witzenrath, E. Zessin, T. Zoller, C. Arendt, C. Bellinghausen, S. Cremer, A. Groh, A. Gruenewaldt, Y. Khodamoradi, S. Klinsing, G. Rohde, M. Vehreschild, T. Vogl, S. Frank, J. C. Hellmuth, M. Huber, S. Kaeaeb, O. T. Keppler, E. Khatamzas, C. Mandel, S. Mueller, M. Muenchhoff, L. Reeh, C. Scherer, H. Stubbe, M. von Bergwelt, L. Weiss, B. Zwissler, S. Cleef, M. E. Figuera Basso, J. Franzenburg, K. Franzpoetter, A. Friedrichs, A. Hermes, J. Heyckendorf, C. Kujat, I. Lehmann, C. Maetzler, S. Meier, D. Pape, S. Poick, L. Reinke, A. K. Russ, A. M. Scheer, D. Schunk, T. Tamminga, S. Bohnet, D. Droemann, K. F. Franzen, R. Hoerster, N. Kaeding, M. Nissen, P. Parschke, J. Rupp, S. Caesar, H. Einsele, S. Frantz, A. Frey, A. Grau, K. Haas, C. Haertel, K. G. Haeusler, G. Hein, J. Herrmann, A. Horn, R. Jahns, P. Meybohm, F. A. Montellano, C. Morbach, J. Schmidt, P. Schulze, S. Stoerk, J. Volkmann, T. Bahmer, A. Hermes, M. Krawczak, W. Lieb, S. Schreiber, T. Tamminga, B. Balzuweit, S. Berger, J. Fricke, M. Hummel, A. Krannich, L. Krist, F. Kurth, J. Lienau, R. Lorbeer, C. Pley, J. Schaller, S. Schmidt, C. Thibeault, M. Witzenrath, T. Zoller, I. Bernemann, T. Illig, M. Kersting, N. Klopp, V. Kopfnagel, S. Muecke, M. Kraus, B. Lorenz‐Depiereux, G. Anton, A. Kuehn‐Steven, S. Kunze, M. K. Tauchert, K. Appel, M. Brechtel, I. Broehl, K. Fiedler, R. Geisler, S. M. Hopff, K. Knaub, C. Lee, S. Nunes de Miranda, S. Raquib, G. Sauer, M. Scherer, J. J. Vehreschild, P. Wagner, L. Wolf, J. C. Hellmuth, K. Guenther, F. Haug, J. Haug, A. Horn, M. Kohls, C. Fiessler, P. U. Heuschmann, O. Miljukov, C. Nuernberger, J. P. Reese, L. Schmidbauer, I. Chaplinskaya, S. Hanss, D. Krefting, C. Pape, M. Rainers, A. Schoneberg, N. Weinert, T. Bahls, W. Hoffmann, M. Nauck, C. Schaefer, M. Schattschneider, D. Stahl, H. Valentin, P. Heuschmann, A. L. Hofmann, S. Jiru‐Hillmann, J. P. Reese, S. Herold, P. Heuschmann, R. Heyder, W. Hoffmann, T. Illig, S. Schreiber, J. J. Vehreschild, M. Witzenrath   +190 more
wiley   +1 more source

Reduced Muscular Carnosine in Proximal Myotonic Myopathy—A Pilot 1H‐MRS Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Myotonic dystrophy type 2 (proximal myotonic myopathy, PROMM) is a progressive multisystem disorder with muscular symptoms (proximal weakness, pain, myotonia) and systemic manifestations such as diabetes mellitus, cataracts, and cardiac arrhythmias.
Alexander Gussew, Maryam Kargaran, Maik Rothe, Andreas Deistung, Dietrich Stoevesandt, Walter A. Wohlgemuth, David Strube, Thomas Kendzierski, Anna Katharina Kölsch, Maurits Gerhard Abraham Heuschen, Markus Otto, Alexander Mensch   +11 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

Glymphatic Dysfunction Reflects Post‐Concussion Symptoms: Changes Within 1 Month and After 3 Months

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mild traumatic brain injury (mTBI) may alter glymphatic function; however, its progression and variability remain obscure. This study examined glymphatic function following mTBI within 1 month and after 3 months post‐injury to determine whether variations in glymphatic function are associated with post‐traumatic symptom severity ...
Eunkyung Kim, Han Gil Seo, Roh‐Eul Yoo, Byung‐Mo Oh   +3 more
wiley   +1 more source

Effects of Hall Current and Rotation on Unsteady MHD Couette Flow in the Presence of an Inclined Magnetic Field

Journal of Applied Fluid Mechanics, 2012
Unsteady hydromagnetic Couette flow of a viscous incompressible electrically conducting fluid in a rotating system in the presence of an inclined magnetic field taking Hall current into account is studied.
Gauri Shanker Seth, R. Nandkeolyar, Md.S. Ansari   +2 more
doaj  

Predicting Epileptogenic Tubers in Patients With Tuberous Sclerosis Complex Using a Fusion Model Integrating Lesion Network Mapping and Machine Learning

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Accurate localization of epileptogenic tubers (ETs) in patients with tuberous sclerosis complex (TSC) is essential but challenging, as these tubers lack distinct pathological or genetic markers to differentiate them from other cortical tubers.
Tinghong Liu, Qi Wang, Suhui Kuang, Dezhi Cao, Ping Ding, Shaohui Zhang, Haihua Wei, Zhirong Wei, Jinshan Xu, Xinyu Huang, Bing Liu, Shuli Liang   +11 more
wiley   +1 more source

Cognitive Status in People With Epilepsy in the Republic of Guinea: A Prospective, Case–Control Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective People with epilepsy (PWE) may experience cognitive deficits but fail to undergo formal evaluation. This study compares cognitive status between PWE and healthy controls in the West African Republic of Guinea. Methods A cross‐sectional, case–control study was conducted in sequential recruitment phases (July 2024–July 2025) at Ignace ...
Maya L. Mastick, Cheick O. Soumah, Malé Doré, Oumar Mara, Desiré Neldje, Fodé A. Cissé, Toure M. Lamine, Aminata Diallo, Seungwon Lee, Siddharth Satish, Alexander J. X. Chen, Alice Liu, Nomin Enkhtsetseg, Farrah J. Mateen, The Guinea Epilepsy Project   +14 more
wiley   +1 more source

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source

European Current Research on Fluid Inclusions — ECROFI XXI Leoben (Austria)

Open Geosciences, 2012
Bakker Ronald, Baumgartner Miriam
doaj   +1 more source