Results 111 to 120 of about 17,591 (285)
Longitudinal Phenotypic Trajectories in GNAO1‐Related Disorders: Defining Disease Progression and Clinical Profiles
Annals of Neurology, EarlyView.Objective
Pathogenic variants in GNAO1 cause a spectrum of epilepsy, movement disorders, and developmental impairment. Clinical heterogeneity complicates prognosis and therapeutic development. We present the first longitudinal natural history study of GNAO1‐related disorders (GNAO1‐RD) to delineate phenotypic trajectories. Methods
Sixty‐six individuals Jana Domínguez‐Carral, Ana María Domínguez Cobo, Sol Balsells, Anna Aguilar‐Ros, Chu‐Ting Chang, William G. Ludlam, Kathryn Yang, Katerina Bernardi, Micaela Chinigioli, Ainara Salazar‐Villacorta, Veronica Di Pisa, Nuria Lamagrande‐Casanova, Elena González‐Alguacil, Beatriz De la Casa‐Fages, Akihisa Okumura, Josefina Rodríguez, Ayush Agarwal, Daniela Muñoz‐Chesta, Carolina Reynoso‐Osnayo, Amy Lin, Brahim Tabarki, Jobaida Parvin, Adolfo Alberto Gallo, Andreia Forno, Fabian Maass, Johnny Montiel Blanco, Salomé Nasif, Elizabeth Jennions, Jorge Luis Ramón‐Gómez, Helene Verhelst, Juan José Nieto Barceló, Dunja Čokolić Petrović, Luz Victoria García Ruiz, Christoph van Riesen, Paulo Rego Sousa, Maria del Pilar Massaro Sanchez, Husnea Ara Khan, Wejdan Hakami, Jennifer Friedman, Iván Espinoza‐Quinteros, Monica Troncoso, Divyani Garg, Micaela Pauni, Hirokazu Kurahashi, María Concepción Miranda‐Herrero, Anna Duat‐Rodriguez, Luca Soliani, Manju A. Kurian, Angeles Schteinschnaider, Siddharth Srivastava, Darius Ebrahimi‐Fakhari, Kirill A. Martemyanov, Juan Darío Ortigoza‐Escobar +52 morewiley +1 more sourceIdentification and mechanistic analysis of neurovascular coupling related biomarkers for diabetic macular edema
Frontiers in Molecular BiosciencesIntroductionDiabetic macular edema (DME) is a major cause of vision loss in the sick with diabetic retinopathy. The occurrence of DME is closely related to the breakdown of neurovascular coupling; however, its underlying mechanism has not been fully ...Tianpeng Chen, Tianpeng Chen, Tianpeng Chen, Tianpeng Chen, Shufan Sheng, Shufan Sheng, Shufan Sheng, Shufan Sheng, Shufan Sheng, Jing Chen, Jing Chen, Jing Chen, Jing Chen, Jing Chen, Xiaole Wang, Xiaole Wang, Xiaole Wang, Xiaole Wang, Xiaole Wang, Yanxing Shang, Yanxing Shang, Yanxing Shang, Yanxing Shang, Chengwei Duan, Chengwei Duan, Chengwei Duan, Chengwei Duan, Caixia Liang, Caixia Liang, Caixia Liang, Caixia Liang, Yu Song, Yu Song, Yu Song, Yu Song, Yu Song, Dongmei Zhang, Dongmei Zhang, Dongmei Zhang, Dongmei Zhang +39 moredoaj +1 more sourceCerebrospinal Fluid from Restless Legs Syndrome Patients Reduces Iron Uptake in Blood–Brain Barrier Endothelial Cells by Disrupting the Regulation of Transferrin Receptors
Annals of Neurology, EarlyView.Model figure of BBBECs TfR1 regulation in control and RLS: Graphical representation of TfR1 regulation in ECs by IRPs and representing it can be dysregulated by miR‐124‐3p in ECs of RLS. FPN1, ferroportin; BBBEC, blood‐brain barrier endothelial cells; IRP, iron regulatory proytein1/2; TfR1, Transferrin receptor; IRE, Iron responsive elements; Tf ...Kondaiah Palsa, Aurosman Pappus Sahu, David B. Rye, Lynn Marie Trotti, Irina A. Elcheva, Vladimir S. Spiegelman, James R. Connor +6 morewiley +1 more sourceHematoma Interleukin‐1 Receptor Antagonist Concentrations Predict Long‐Term Outcome in Acute Human Intracerebral Hemorrhage
Annals of Neurology, EarlyView.Objectives
The interleukin (IL)‐1, IL‐6, and C‐reactive protein (CRP) pathway is central to the immune response after intracerebral hemorrhage (ICH). We tested for associations between hematoma and plasma cytokine concentrations and patient outcomes in Minimally Invasive Surgery Plus Rt‐PA for ICH Evacuation Phase III (MISTIE III) participants ...
Adrian R. Parry‐Jones, Blessing Nyakutsikwa, Michael H. Askenase, Matthew Gittins, Mary Newland, Siobhan Crilly, Paul R. Kasher, Yvonne Davidson, Federico Roncaroli, Stuart M. Allan, Lauren H. Sansing, Wendy Ziai, Daniel F. Hanley, INFLAME‐ICH Investigators, Mark Harrigan, David Miller, Judy Huang, Wendy Ziai, Jack Jallo, Fred Rincon, Gaurav Gupta, Igor Rybinnik, Diederik Bulters, Mary Leigh Gelea, Andras Buki, Erzsebet Ezer, Hiren Patel, Adrian Parry‐Jones, Charles Matouk, Kevin Sheth / Lauren Sansing, Ali Zomorodi, Michael James, Pal Barzo, Krisztian Tanczos, Gregory Thompson, Ventatakrishna Rajajee/Aditya Pandey, Peter Nakaji, Shawn E. Wright, Walter Galicich, Thomas Bergman, Andrew Carlson, Huy Tran, Philipp Taussky, Safdar Ansari, Fuat Arikan, Marcelino Baguena, Ronald Reimer, W. David Freeman, Ania Pollack, John Terry, Geza Mezey, Katalin Szabo/Laszlo Csiba, Robert F. James, Steven J. Barrer, Larami MacKenzie +54 morewiley +1 more sourceIdiopathic Intracranial Hypertension Is Characterized by a Distinct Proteomic Profile
Annals of Neurology, EarlyView.Objectives
The pathophysiology of idiopathic intracranial hypertension (IIH) is poorly understood and disease‐specific biomarkers are lacking. We aimed to shed light on IIH pathophysiology and identify disease‐specific biomarkers. Methods
This prospective cross‐sectional cohort study included patients with new‐onset IIH and age‐, body mass index‐, and ...Santosh D. Bhosale, Arkadiusz Nawrocki, Johanne J. Korsbæk, Nadja S. Hansen, Fabian Foettinger, Nik Krajnc, Mathias J. Norvig, Niclas L. Eriksen, Stefan Macher, Berthold Pemp, Connar S.J. Westgate, Christian B. Pedersen, Frantz R. Poulsen, Sune Munthe, Gabriel Bsteh, Martin R. Larsen, Rigmor H. Jensen, Dagmar Beier +17 morewiley +1 more sourceMonoallelic POLR3A Variants Cause Early‐Onset Peripheral Neuropathy
Annals of Neurology, EarlyView.Objective
Biallelic variants in genes encoding the RNA polymerase III complex (Pol III) cause a spectrum of neurological disorders primarily affecting the central nervous system. Monoallelic variants have been reported in the POLR3B subunit only, associated with neurodevelopmental disorder, epilepsy, and peripheral neuropathy.Luiza L. P. Ramos, Jevin M. Parmar, Robin Wijngaard, Bianca R. Grosz, Tamas Lazar, Ligia Mateiu, Steve Vucic, Kishore R. Kumar, Dennis Yeow, Laura I. Rudaks, Lonneke de Boer, Annemarie de Vreugd, David A. Koolen, Thatjana Gardeitchik, Anita Cairns, Krishnan Iyengar, Fernando Kok, Fernanda Barbosa Figueiredo, Alzira Alves de Siqueira Carvalho, Luiz S. Mageste Barbosa, Rodrigo Rezende Arantes, Tyler Rehbein, Jordan E. Bontrager, Elizabeth P. Wood, Janet E. Sowden, Gavin Monahan, Meutia Kumaheri, Ivy Cuijt, Melina Ellis, Gonzalo Perez‐Siles, Elyshia McNamara, Ronald van Beek, Celine B. Meijers, Ivaylo Tournev, Stephan Zuchner, Shoshana J. Wodak, Clara D. M. van Karnebeek, Nigel Laing, Liana N. Semcesen, David A. Stroud, David N. Herrmann, Velina Guergueltcheva, Marina L. Kennerson, Machteld M. Oud, Gianina Ravenscroft, Ayse Candayan, Albena Jordanova +46 morewiley +1 more sourceSpeech Biomarkers for Quantifying Effects of Subthalamic Deep Brain Stimulation in Parkinson's Disease
Annals of Neurology, EarlyView.Objective
Dysarthria is one of the most common and disabling side effects of subthalamic nucleus deep brain stimulation (STN‐DBS) in Parkinson's disease (PD). Stimulation often exacerbates speech dysfunction beyond the effects of PD progression, likely because of current spread to structures surrounding the STN.Petr Krýže, Mário Sousa, Vojtěch Illner, Adriana Jorge, Matilde Castelli, Ines Debove, Andreia D. Magalhães, Julia Waskönig, Lenard Lachenmayer, Joan Philipp Michelis, Gerd Tinkhauser, Deborah Amstutz, Marie Elise Maradan‐Gachet, Katrin Petermann, Claudio Pollo, Tobias Nef, Paul Krack, Jan Rusz +17 morewiley +1 more source