Results 161 to 170 of about 156,479 (260)

Rehabilitation and Recovery in a Patient With Cerebellar Atrophy and Ataxia Following Femoral Fracture: A Case Report. [PDF]

Case Rep Orthop
Gholipour M, Mohammaditabar M, Abbasi F.
europepmc   +1 more source

Oligogenic 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 more
wiley   +1 more source

Author Correction: HMGB2-induced calreticulin translocation required for immunogenic cell death and ferroptosis of cancer cells are controlled by the nuclear exporter XPO1

Communications Biology
Jingqi Fan, Kevin P. Gillespie, Clementina Mesaros, Ian A. Blair   +3 more
doaj   +1 more source

Computational Short Tandem Repeat Genotyping Reveals Clinically Relevant Expansions in a Large Turkish Neurodegeneration Disease Cohort. [PDF]

Int J Mol Sci
Khojakulov Z, Palvadeau RJ, Kovancılar-Koç M, Atay I, Şahbaz I, Tekgül Ş, Şahin A, Badakal EZD, Gül-Demirkale T, Çiftçi V, Bayraktar E, Tunca C, Smolina N, Akçimen F, Başak AN.   +14 more
europepmc   +1 more source

A Patient-Reported Outcome Measure of Communication Difficulties in Friedreich Ataxia: COMATAX. [PDF]

Cerebellum
Buchholz M, Monier V, Ewenczyk C, Heinzmann A, Pierron L, Sayah S, Hilab R, Atencio M, Petit E, Bertrand F, Vallancien A, Diot C, Rouillon S, Nadke A, Feldmann K, Maas V, Faber J, Sarwinska D, Boesch SM, Indelicato E, Bischoff AT, Klopstock T, Schulz JB, Reetz K, Fleszar Z, Iskandar A, Klockgether T, Grobe-Einsler M, Xie F, Humphries B, Michalowsky B, Durr A, Borel S.   +32 more
europepmc   +1 more source

Antiseizure potency and neurotoxicity of the enantiomers of fenfluramine and norfenfluramine in rats and correlations with their concentrations in plasma and brain

Epilepsia, EarlyView.
Abstract Objective Based on the evidence that fenfluramine‐induced anorexia, weight loss, and cardiovascular toxicity are primarily mediated by the d‐enantiomers of fenfluramine and its metabolite norfenfluramine, we investigated pharmacokinetic/pharmacodynamic correlations for the active enantiomers of fenfluramine and norfenfluramine in the rat ...
Yara Sheeni, Dinorah Barasch, Tawfeeq Shekh‐Ahmad, Emilio Perucca, Meir Bialer   +4 more
wiley   +1 more source

Electrophysiological features and outcomes of post-infectious myoclonus-ataxia syndrome: a case report and literature review. [PDF]

J Med Case Rep
Wang RY, Zheng Y, Ge Y, Xu YF, Ding Y.
europepmc   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Characterizing the effects of anti-PD1 immunotherapy on ataxia in a vestibular schwannoma mouse model. [PDF]

J Neurooncol
Lu S, Hernandez-Meadows M, Yin Z, Xiu B, Jones AP, Welling DB, Xu L.   +6 more
europepmc   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source