2019 Publications acknowledging ERN-RND

  1. Franziska Albrecht, Karsten Mueller, Tommaso Ballarini, Leonie Lampe, Janine Diehl-Schmid, Klaus Fassbender, Klaus Fliessbach, , Holger Jahn, Robert Jech, Jan Kassubek, Johannes Kornhuber, Bernhard Landwehrmeyer, Martin Lauer, Albert C.Ludo, Epameinondas Lyros, Johannes Prudlo, Anja Schneider, MatthisSynofzik, Matthias L. Schroeter, Unraveling corticobasal syndrome and alien limb syndrome with structural brain imaging.
  2. Anne-Catherine Bachoud-Lévi, Joaquim Ferreira, Renaud Massart, Katia Youssov, Anne Rosser, Monica Busse, David Craufurd, Ralf Reilmann, Giuseppe De Michele, Daniela Rae, Ferdinando Squitieri, Klaus Seppi, Charles Perrine, Clarisse Scherer-Gagou, Olivier Audrey, Christophe Verny, and Jean-Marc Burgunder, International Guidelines for the Treatment of Huntington’s Disease.
  3. Anne-Catherine Bachoud-Lévi, Joaquim Ferreira, Renaud Massart, Katia Youssov, Anne Rosser, Monica Busse, David Craufurd, Ralf Reilmann, Giuseppe De Michele, Daniela Rae, Ferdinando Squitieri, Klaus Seppi, Charles Perrine, Clarisse Scherer-Gagou, Olivier Audrey, Christophe Verny and Jean-Marc Burgunder, Disentangling brain functional network remodeling in corticobasal syndrome – A multimodal MRI study.
  4. Yaroslau Compta, Sara P. Dias, Darly M. Giraldo, Alexandra Pérez-Sorianoa, Esteban Muñoz, Josep Saura, Manel Fernández, Paloma Bravo, Ana Cámara, Marta Pulido-Salgado, Cèlia Painous, José Ríos, María José Martí, Cerebrospinal fluid cytokines in multiple system atrophy: A cross-sectional Catalan MSA registry study.
  5. Chiara Maria Giulia De Luca, Antonio Emanuele Elia, Sara Maria Portaleone, Federico Angelo Cazzaniga, Martina Rossi, Edoardo Bistaffa, Elena De Cecco, Joanna Narkiewicz, Giulia Salzano, Olga Carletta, Luigi Romito, Grazia Devigili, Paola Soliveri, Pietro Tiraboschi, Giuseppe Legname, Fabrizio Tagliavini, Roberto Eleopra, Giorgio Giaccone, and Fabio Moda, Efficient RT-QuIC seeding activity for alpha-synuclein in olfactory mucosa samples of patients with Parkinson’s disease and multiple system atrophy.

  6. Petr Dušek, Veronika Lorenzo Y Losada Ibarburu, Ondrej Bezdicek, Irene Dall’antonia, Simona Dostálová, Petra Kovalská, Radim Krupička, Jiří Nepožitek, Tomáš Nikolai, Michal Novotný, Pavla Peřinová, Jan Rusz, Tereza Serranová, Tereza Tykalová, Olga Ulmanová, Zuzana Mecková, Václav Ptáčník, Jiří Trnka, David Zogala, Evžen Růžička, Karel Šonka, Relations of non-motor symptoms and dopamine transporter binding in REM sleep behavior disorder.
  7. Petr Dusek, Ralf Mekle, Marta Skowronska, Julio Acosta‐Cabronero, Till Huelnhagen, Simon Daniel Robinson, Florian Schubert, Marcus Deschauer, Antje Els, Bernd Ittermann, Gudrun Schottmann, Vince I. Madai, Friedemann Paul, Thomas Klopstock, Tomasz Kmiec, Thoralf Niendorf, Jens Wuerfel, Susanne A. Schneider, Brain iron and metabolic abnormalities in C19orf12 mutation carriers: A 7.0 tesla MRI study in mitochondrial membrane protein-associated neurodegeneration.
  8. Max‐Joseph Grimm, Gesine Respondek, Maria Stamelou, Thomas Arzberger, Leslie Ferguson, Ellen Gelpi, Armin Giese, Murray Grossman, David J. Irwin, Alexander Pantelyat, Alex Rajput, Sigrun Roeber, John C. van Swieten, Claire Troakes, Angelo Antonini, Kailash P. Bhatia, Carlo Colosimo, Thilo van Eimeren, Jan Kassubek, Johannes Levin, Wassilios G. Meissner, Christer Nilsson, Wolfgang H. Oertel, Ines Piot, Werner Poewe, Gregor K. Wenning, Adam Boxer, Lawrence I. Golbe, Keith A. Josephs, Irene Litvan, Huw R. Morris, Jennifer L. Whitwell, Yaroslau Compta, Jean‐Christophe Corvol, Anthony E. Lang, James B. Rowe, Günter U. Höglinger, for the Movement Disorder Society‐endorsed PSP Study Group How to apply the movement disorder society criteria for diagnosis of progressive supranuclear palsy.
  9. Inga Harting, Murtadha Al-Saady, Ingeborg Krägeloh-Mann, Annette Bley, Maja Hempel, Tatjana Bierhals, Stephanie Karch, Ute Moog, Geneviève Bernard, Richard Huntsman, Rosalina M. L. van Spaendonk, Maaike Vreeburg, Agustí Rodríguez-Palmero, Aurora Pujol, Marjo S. van der Knaap, Petra J. W. Pouwels, and Nicole I. Wolf, POLR3A variants with striatal involvement and extrapyramidal movement disorder.
  10. Kamal Khan, Michael Zech, Angela T. Morgan, David J. Amor, Matej Skorvanek, Tahir N. Khan, Michael S. Hildebrand, Victoria E. Jackson, Thomas S. Scerri, Matthew Coleman, Kristin A. Rigbye, Ingrid E. Scheffer, Melanie Bahlo, Matias Wagner, Daniel D. Lam, Riccardo Berutti, Petra Havránková, Anna Fečíková, Tim M. Strom, Vladimir Han, Petra Dosekova, Zuzana Gdovinova, Franco Laccone, Muhammad Jameel, Marie R. Mooney, Shahid M. Baig, Robert Jech, Erica E. Davis, Nicholas Katsanis, and Juliane Winkelmann, Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia.
  11. Thomas Klopstock, Maria L Escolar, Randall D Marshall, , Belen Perez-Dueñas, Sarah Tuller, Aleksandar Videnovic, Feriandas Greblikas The FOsmetpantotenate Replacement Therapy (FORT) randomized, double-blind, Placebo-controlled pivotal trial: Study design and development methodology of a novel primary efficacy outcome in patients with pantothenate kinase-associated neurodegeneration.
  12. Thomas Klopstock, Fernando Tricta, Lynne Neumayr, Ivan Karin, Giovanna Zorzi, Caroline Fradette, Tomasz Kmieć, Boriana Büchner, Hannah E Steele, Rita Horvath, Patrick F Chinnery, Anna Basu, Clemens Küpper, Christiane Neuhofer, Bernadette Kálmán, Petr Dušek, Zuhal Yapici, Ian Wilson, Feng Zhao, Federica Zibordi, Nardo Nardocci, Christine Aguilar, Susan J Hayflick, Michael Spino, Andrew M Blamire, Penelope Hogarth, Elliott Vichinsky, Safety and efficacy of deferiprone for pantothenate kinase-associated neurodegeneration: a randomised, double-blind, controlled trial and an open-label extension study.
  13. Marisa I. Mendes, Lydia M. C. Green, Enrico Bertini, Davide Tonduti, Chiara Aiello, Desiree Smith, Ettore Salsano, Shanice Beerepoot, Jozef Hertecant, Sarah von Spiczak, John H. Livingston, Lisa Emrick, Jamie Fraser, Laura Russell, Genevieve Bernard, Stefania Magri, Daniela Di Bella, Franco Taroni, Mary K. Koenig, Isabella Moroni, Gerarda Cappuccio, Nicola Brunetti‐Pierri, Jullie Rhee, Bryce A. Mendelsohn, Ingo Helbig, Katherine Helbig, Hiltrud Muhle, Omar Ismayl, Adeline L. Vanderver, Gajja S. Salomons, Marjo S. van der Knaap, and Nicole I. Wolf, RARS1-related hypomyelinating leukodystrophy: Expanding the spectrum.
  14. Constanza Morén, Diana Luz Juárez-Flores, Kai-Yin Chau, Matthew Gegg, Glòria Garrabou, Ingrid González-Casacuberta, Mariona Guitart-Mampel, Eduardo Tolosa, María José Martí, Francesc Cardellach, and Anthony Henry Vernon Schapira, GBA mutation promotes early mitochondrial dysfunction in 3D neurosphere models.
  15. A. Pérez-Soriano, A. Cámara, Y. Compta, Setting in motion physiotherapy for MSAp.
  16. Ralf Reilmann, Andrew McGarry, Igor D Grachev, Juha-Matti Savola, Beth Borowsky, Eli Eyal, Nicholas Gross, Douglas Langbehn, Robin Schubert, Anna Teige Wickenberg, Spyros Papapetropoulos, Michael Hayden, Ferdinando Squitieri, Karl Kieburtz, G Bernhard Landwehrmeyer, on behalf of the European Huntington’s Disease Network and the Huntington Study Group investigators, Safety and efficacy of pridopidine in patients with Huntington’s disease (PRIDE-HD): a phase 2, randomised, placebo-controlled, multicentre, dose-ranging study.
  17. Jan Rusz, Anna Fečíková, Tereza Tykalová & Robert Jech, Effect of pallidal deep-brain stimulation on articulation rate in dystonia.
  18. Jan Rusz, Tereza Tykalová, Giulio Salerno, Serena Bancone, Johara Scarpelli & Maria Teresa Pellecchia, Distinctive speech signature in cerebellar and parkinsonian subtypes of multiple system atrophy.