Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Katja Zschiedrich"'
Autor:
Angela Rosenbohm, Hendrik Pott, Mirja Thomsen, Haloom Rafehi, Sabine Kaya, Silke Szymczak, Alexander E. Volk, Kathrin Mueller, Isabel Silveira, Jochen H. Weishaupt, Holger Tönnies, Philip Seibler, Katja Zschiedrich, Susen Schaake, Ana Westenberger, Christine Zühlke, Christel Depienne, Joanne Trinh, Albert C. Ludolph, Christine Klein, Melanie Bahlo, Katja Lohmann
Publikováno v:
Movement Disorders. 37:2427-2439
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f9dfcf3850a13b6b0ee94f62ccef9400
https://doi.org/10.1002/mds.29221
https://doi.org/10.1002/mds.29221
Autor:
Carolyn M. Sue, Daniel Alvarez-Fischer, Eckart Altenmüller, Kristina Simonyan, Justus L. Groen, Björn Arns, Andreas Ferbert, Vladimir S. Kostic, Aleksandar Rakovic, Meike Kasten, Marc Agzarian, Katja Zschiedrich, Jin-Sung Park, Alexander Schmidt, Alexander Münchau, Johann Hagenah, Norbert Brüggemann, Katja Lohmann, Anthony E. Lang, Christine Klein, Robert A. Wilcox, Alfredo Ramirez, Susen Winkler, Thora Lohnau, Antonius P. M. Langeveld, Frank J. Kaiser, Laurie J. Ozelius, Marina A. J. Tijssen, Kishore R. Kumar
Publikováno v:
Annals of Neurology. 73:537-545
Objective A study was undertaken to identify the gene underlying DYT4 dystonia, a dominantly inherited form of spasmodic dysphonia combined with other focal or generalized dystonia and a characteristic facies and body habitus, in an Australian family
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fc2e508b3e5aac3195097ab02afab6cf
https://doi.org/10.1002/ana.23829
https://doi.org/10.1002/ana.23829
Autor:
Christine, Klein, Tobias, Löchte, Suzanne M, Delamonte, Ingrid, Braenne, Andrew A, Hicks, Katja, Zschiedrich-Jansen, David K, Simon, Joseph H, Friedman, Katja, Lohmann
Publikováno v:
Movement disorders : official journal of the Movement Disorder Society. 31(12)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f3ed3526096413095f67423bac506f0d
https://pubmed.ncbi.nlm.nih.gov/27709683
https://pubmed.ncbi.nlm.nih.gov/27709683
Autor:
Katja Lohmann, Vladimir S. Kostic, Klaus L. Leenders, Christine Klein, Andreas Ziegler, Norbert Brüggemann, Norman Kock, Peter Vieregge, Katja Zschiedrich, Meike Kasten, Inke R. König
Publikováno v:
Journal of Neurology. 256:115-120
The multidrug resistance protein 1 (MDR1 or ABCB1) gene encodes a P-glycoprotein that protects the brain against neurotoxicants. Certain MDR1 genetic variants are known to compromise the function of this transporter and may thus be associated with Pa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::019df579192bb741f58e0bfb9bda6ee5
https://doi.org/10.1007/s00415-009-0089-x
https://doi.org/10.1007/s00415-009-0089-x
Autor:
Katja Zschiedrich, Johann Hagenah, Heike Pawlack, Ana Westenberger, Karen Freimann, Anne Grünewald, Katja Lohmann, Norbert Brüggemann, Christine Klein
Publikováno v:
BASE-Bielefeld Academic Search Engine
Dysfunctional mitochondria and the mitochondrial chaperone mortalin (HSPA9, GRP75) have been implicated in the pathogenesis of Parkinson disease (PD). We screened 139 early-onset PD (EOPD) patients for mutations in mortalin revealing one missense cha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c55db0f6f9b66de2d16e51ef441650c1
https://pubmed.ncbi.nlm.nih.gov/23831374
https://pubmed.ncbi.nlm.nih.gov/23831374
Autor:
María García-Murias, Maarja Mäe, Katja Zschiedrich, Michael Preuss, Andrés Ordóñez-Ugalde, Elisabeth J. Rushing, I. Navas, Aloysius Domingo, Valerija Dobricic, Ana Westenberger, Milena Jankovic, Janis M. Miyasaki, Didier Hannequin, Christer Betsholtz, Isabelle Le Ber, Carmen Dering, Kioomars Saliminejad, Irina Abakumova, Mayana Zatz, Giovanni Coppola, Elisabeth Raschperger, Elizabeth Spiteri, María Jesús Sobrido, Martin Paucar, Gilles Defer, Per Svenningsson, Moritz C. Wurnig, Vladimir S. Kostic, Renee L. Sears, J.M. Prieto, Hamid Reza Khorram Khorshid, Angel Carracedo, Gaël Nicolas, Michael Hugelshofer, José Eriton Gomes da Cunha, Igor Petrović, Adriano Aguzzi, Katja Lohmann, Regina Reimann, R. R. Lemos, Annika Keller, Christine Klein, Ivana Novakovic, Andres Kaech, Dominique Campion, Jörg Klepper, Andreas Boss, João Ricardo Mendes de Oliveira, Daniel H. Geschwind
Publikováno v:
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Nature Genetics
Universidade de São Paulo (USP)
instacron:USP
Nature Genetics
Calcifications in the basal ganglia are a common incidental finding and are sometimes inherited as an autosomal dominant trait (idiopathic basal ganglia calcification (IBGC)). Recently, mutations in the PDGFRB gene coding for the platelet-derived gro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79f908008d37c6556a52dc2d996dacbc
https://pubmed.ncbi.nlm.nih.gov/24390807
https://pubmed.ncbi.nlm.nih.gov/24390807