Results 111 to 120 of about 90,516 (299)
Exploring Healthcare Continuity in Pediatric‐Onset Multiple Sclerosis in the United States
Annals of the Child Neurology Society, EarlyView.ABSTRACT Objective
Little is known about shifting from pediatric to adult‐focused multiple sclerosis (MS) care. This study aims to explore transition of care and follow‐up in the US pediatric‐onset MS (POMS) population. Methods
Surveys were distributed to 10 sites in the US Network of Pediatric MS Centers (US NPMSC) about transition‐of‐care practices ...Aaron W. Abrams, Michael Waltz, Jonathan Race, T. Charles Casper, Claudia Gambrah‐Lyles, Kimberly O'Neill, Akash Virupakshaiah, Kristen S. Fisher, Melissa A. Wright, Kelsey E. Poisson, Eva‐Chava M. Bernfeld, Gregory Aaen, Leslie A. Benson, Tanuja Chitnis, Carla Francisco, Grace Y. Gombolay, Mark P. Gorman, Jennifer S. Graves, Lauren Krupp, Timothy E. Lotze, Soe Mar, Jayne Ness, Mary Rensel, Moses Rodriguez, Teri Schreiner, Nikita Shukla, Jan‐Mendelt Tillema, Bianca Weinstock‐Guttman, Yolanda Wheeler, Emmanuelle Waubant, John Rose, US Network of Pediatric MS Centers +31 morewiley +1 more sourcePediatric acquired demyelinating syndromes: a nationwide validation study of the Danish National Patient Register
, 2018 Magnus Spangsberg Boesen,1 Melinda Magyari,2,3 Alfred Peter Born,1 Lau Caspar Thygesen4 1Department of Pediatrics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark; 2The Danish Multiple Sclerosis Registry, Department of Neurology ...Magyari M, Born AP, Thygesen LC, Boesen MS +3 morecore Longitudinal Clinical Progression in X‐Linked Adrenoleukodystrophy: The AMNL Scoring System
Annals of the Child Neurology Society, EarlyView.ABSTRACT Objective
The current clinical nomenclature for individuals with ABCD1 gene dysfunction is often uninformative. The disorder was initially described as a combination of adrenal insufficiency and leukodystrophy, leading to the widespread use of “X‐linked adrenoleukodystrophy” (ALD).Eda G. Kabak, Cecilie Videbaek, Marije M. C. Voermans, Björn M. van Geel, Keith van Haren, Stephan Kemp, Diederik van de Beek, Marc Engelen +7 morewiley +1 more sourceInpatient Deaths in Pediatric Leukodystrophies
Annals of the Child Neurology Society, EarlyView.ABSTRACT Background and Objectives
Leukodystrophies are neurogenetic diseases affecting the white matter of the central nervous system. The contributing factors for leukodystrophy mortality are incompletely understood. Our objectives were to characterize inpatient deaths of pediatric leukodystrophies, including demographics and risk factors.Hannah S. Hart, Kalista L. Vordos, Caroline T. Flood, Darin J. Isakson, Alfredo Novoa, Joshua L. Bonkowsky +5 morewiley +1 more sourceRole of SoxE transcription factors in development and disease
Developmental Dynamics, EarlyView.Abstract
Sox8, Sox9, and Sox10 arose by multiple rounds of genome duplications from a single SoxE gene in ancestral vertebrates. In this review, we will briefly discuss the molecular structure and function of SoxE transcription factors and their evolutionary origin. We will then discuss their expression, function, and developmental disorders.Merin Lawrence, Gerhard Schlosserwiley +1 more sourceDiffusion-weighted imaging in acute demyelinating myelopathy
, 2012 Diffusion-weighted imaging (DWI) has become a reference MRI technique for the evaluation of neurological disorders. Few publications have investigated the application of DWI for inflammatory demyelinating lesions. The purpose of the study was to describe Zecca, Chiara, Santini, Francesco, Tschuor, Silvia, Nadarajah, Navarajah, Bassetti, Claudio L.A., Wetzel, Stephan, Cereda, Carlo, Gobbi, Claudio, Staedler, Claudio +8 morecore +1 more sourceOccipital irregular delta activity in focal epilepsy
Epileptic Disorders, EarlyView.Abstract Objective
Nonspecific occipital irregular delta activity (OID) is a common finding in focal epilepsy (FE). However, the significance of OID and its relationship to the underlying etiology of FE remain largely unstudied. This study aimed to investigate the relationship between OID and the etiology of FE, as well as the relationship between OID ...Mónika Bessenyei, Miklós Emri, Johanna Dömötör, Béla Clemens +3 morewiley +1 more sourceOligogenic inheritance in epilepsy: A systematic exome‐wide analysis
Epilepsia, EarlyView.Abstract Objective
Genetic factors contribute to the majority of epilepsies, but the exact genetic cause remains unknown in most patients. Incomplete penetrance and variable expressivity are frequent, and recent studies showed a burden of deleterious variants in epilepsy genes, suggesting a role for oligogenic inheritance.Sarah Duerinckx, Barbara Gravel, Julie Soblet, Benjamin Legros, Susana Ferrao Santos, Wim Van Paesschen, Estelle Rikir, Epi25 Collaborative, Siwei Chen, Zaid Afawi, Quratulain Zulfiqar Ali, Danielle M. Andrade, Mutluay Arslan, Simona Balestrini, Carmen Barba, Tobias Baumgartner, Betül Baykan, Nerses Bebek, Felicitas Becker, Caitlin A. Bennett, Ahmad Beydoun, Francesca Bisulli, Christian Bosselmann, S. Hande Caglayan, Laura Canafoglia, Barbara Castellotti, Francine Chassoux, I‐Jun Chou, Seo‐Kyung Chung, Patrick Cossette, Chantal Depondt, Orrin Devinsky, Dennis J. Dlugos, Viola Doccini, Colin A. Ellis, Thomas N. Ferraro, Lorenzo Ferri, Mark Fitzgerald, Francesco Fortunato, Elena Freri, Tania Giangregorio, Tracy A. Glauser, Aslı Gundogdu‐Eken, Namrata Gupta, Kevin Haas, Erin L. Heinzen, Christian Hengsbach, Olivia Hoeper, Michele Iacomino, Yushi Inoue, Lara Jehi, Symon M. Kariuki, Karl Martin Klein, Susanne Knake, Andreas Koupparis, Ioanna Kousiappa, Roland Krause, Martin Krenn, Heinz Krestel, Wolfram S. Kunz, Austin Lacey, Stephan Lauxmann, Stephanie L. Leech, Gaetan Lesca, David Lewis‐Smith, Calwing Liao, Laura Licchetta, Kuang‐Lin Lin, Tarja Linnankivi, Daniel H. Lowenstein, Colin H.T. Lui, Ida Manna, Paula Marques, Patrick May, Davide Mei, RaAaella Minardi, Barbara Mostacci, Lorenzo Muccioli, Bernd A. Neubauer, Terence J. O'Brien, Savvas S. Papacostas, Elena Parrini, Manuela Pendziwiat, Francesca Ragona, Mark I. Rees, Antonella Riva, Philippe Ryvlin, Andrea Salmon, Ilaria Sammarra, Marcello Scala, Ingrid E. ScheAer, Susanne Schubert‐Bast, Paolo Scudieri, Graeme J. Sills, Sanjay M. Sisodiya, Hannah Stamberger, Ulrich Stephani, Carlotta Stipa, Pasquale Striano, Adam Strzelczyk, Rainer Surges, Toshimitsu Suzuki, Mariagrazia Talarico, George A. Tanteles, Marian Todaro, Meng‐Han Tsai, Birute Tumiene, Dilsad Turkdogan, Luc Valton, Andreas van Baalen, Annalisa Vetro, Yvonne G. Weber, Sarah Weckhuysen, Peter Widdess‐Walsh, Samuel Wiebe, Randi von Wrede, Kazuhiro Yamakawa, Zuhal Yapıcı, Fritz Zimprich, Milena Zizovic, Gábor Zsurka, Benjamin M. Neale, Samuel F. Berkovic, Solve‐RD DITF‐EpiCARE, Marc Abramowicz, Nicholas Allen, Simona Balestrini, Tobias Bartolomaeus, Ravishankara Bellampalli, Katherine Benson, Francesca Bisulli, Christian Boßelmann, Susan Byrne, Laura Canafoglia, Evelina Carapancea, Barbara Castellotti, Gianpiero Cavalleri, Roberta Cilio, Norman Delanty, Christel Depienne, Chantal Depondt, Sarah Duerinckx, Zakaria Eddafir, Kornelia Ellwanger, Silvana Franceschetti, Elena Freri, Hamidah Ghani, Tiziana Granata, Marie Greally, Renzo Guerrini, Tobias B. Haack, Eva Hammar Bouveret, Michele Iacomino, Rami Jamra, Josua Kegele, Christian Korff, Roland Krause, Alma Küchler, Robert Lauerer‐Braun, Damien Lederer, Elsa Leitão, Holger Lerche, Gaëtan Lesca, David Lewis‐Smith, Laura Licchetta, Frédéric Masclaux, Patrick May, Davide Mei, Cyril Mignot, Charissa Millevert, Raffaella Minardi, Patrick Moloney, Hiltrud Muhle, Mary O. Reghan, Joohyun Park, Elena Parrini, Manuela Pendziwiat, Konrad Platzner, Johanna Pohl, Mary Sandrine, Marcello Scala, Sanjay Sisodiya, Noor Smal, Hannah Stamberger, Pasquale Striano, Roxane van Heurck, Christina Vosseler‐Wolf, David Webb, Sarah Weckhuysen, Federico Zara, Alec Aeby, Guillaume Smits, Chantal Depondt +192 morewiley +1 more source