Results 101 to 110 of about 559,157 (325)

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

Deep Learning–Assisted Differentiation of Four Peripheral Neuropathies Using Corneal Confocal Microscopy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Peripheral neuropathies contribute to patient disability but may be diagnosed late or missed altogether due to late referral, limitation of current diagnostic methods and lack of specialized testing facilities. To address this clinical gap, we developed NeuropathAI, an interpretable deep learning–based multiclass classification ...
Chaima Ben Rabah, Ioannis N. Petropoulos, Mark Stettner, Maryam Ferdousi, Uazman Alam, Nathan Efron, Ahmed Serag, Rayaz A. Malik   +7 more
wiley   +1 more source

Republican Monsters: The Cultural Construction of American Positivist Criminology, 1767-1920 [PDF]

, 2019
This dissertation examines the history of and cultural influences on positivist criminology in the United States. From Benjamin Rush to the present day, the U.S.
Burton, Chase Smith
core  

Cerebrospinal Fluid Tau, p-Tau 181 and Amyloid-beta(38/40/42) in Frontotemporal Dementias and Primary Progressive Aphasias [PDF]

, 2010
Background/Aims: We determined cerebrospinal fluid (CSF) concentrations of amyloid-beta(A beta)(1-38), A beta(1-40), A beta(1-42), total tau and phospho-tau (p-tau) in order to study their differential expression in frontotemporal dementia (FTD, n = 25 ...
Bibl, Mirko, Esselmann, Hermann, Kornhuber, Johannes, Lewczuk, Piotr, Mollenhauer, Brit, Otto, Markus, Rüther, Eckart, Wiltfang, Jens, Wolf, Stefanie   +8 more
core   +1 more source

Chronological and Spatial Distribution of Skeletal Muscle Fat Replacement in FHL1‐Related Myopathies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Variants in the FHL1 gene cause FHL1‐related myopathies (FHL1‐RMs), a group of neuromuscular disorders with diverse clinical presentations. This study aimed to comprehensively characterize the spatial and temporal patterns of skeletal muscle fat replacement throughout the whole body in FHL1‐RMs, to examine disease progression over ...
Rui Shimazaki, Satoru Noguchi, Hotake Takizawa, Yasushi Oya, Yuji Takahashi, Hirofumi Komaki, Hajime Arahata, Shinichiro Hayashi, Ichizo Nishino   +8 more
wiley   +1 more source

The Adhesion GPCR ADGRL2/LPHN2 Can Protect Against Cellular and Organismal Dysfunction

Cells
The most common trigger of sepsis and septic shock is bacterial lipopolysaccharide (LPS). Endothelial cells are among the first to encounter LPS directly.
Philipp Jakobs, Anne Rafflenbeul, Willem Berend Post, Niloofar Ale-Agha, Victoria Elisabeth Groß, Stephanie Pick, Sascha Dolata, Fiona F. Cox, Florian von Ameln, Olaf Eckermann, Joachim Altschmied, Simone Prömel, Judith Haendeler   +12 more
doaj   +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

Clinical Correlates of High Cervical Fractional Anisotropy in Acute Cervical Spinal Cord Injury [PDF]

, 2015
Objective: Fractional anisotropy (FA) of the high cervical cord (C1-C2), rostral to the injury site, correlates with upper limb function in patients with chronic cervical spinal cord injury (SCI).
Eckardt, Gerald, Kurpad, Shekar N., Schmit, Brian D., Vedantam, Aditya, Wang, Marjorie C.   +4 more
core   +1 more source

Factors associated with extended remission in neovascular age-related macular degeneration on pro re nata treatment protocol. [PDF]

, 2020
AimTo show the characteristics and outcomes of patients with neovascular age-related macular degeneration (nAMD) who had extended remission (ER) while on a pro re nata (PRN) treatment protocol.MethodsThis was a retrospective case-control study of a ...
Amador-Patarroyo, Manuel J, Cheng, Lingyun, Dans, Kunny C, Freeman, William R, Lin, Tiezhu, Meshi, Amit, Muftuoglu, Ilkay Kilic   +6 more
core  

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