نتائج البحث - "Janine Magg"

1

دورية أكاديمية

Intranasal Administration of Mesenchymal Stem Cells Ameliorates the Abnormal Dopamine Transmission System and Inflammatory Reaction in the R6/2 Mouse Model of Huntington Disease

المؤلفون: Libo Yu-Taeger, Janice Stricker-Shaver, Katrin Arnold, Patrycja Bambynek-Dziuk, Arianna Novati, Elisabeth Singer, Ali Lourhmati, Claire Fabian, Janine Magg, Olaf Riess, Matthias Schwab, Alexandra Stolzing, Lusine Danielyan, Hoa Huu Phuc Nguyen

المصدر: Cells, Vol 8, Iss 6, p 595 (2019)

مصطلحات موضوعية: Huntington disease, cell therapy, mesenchymal stem cells, intranasal, R6/2 mice, dopamine transmission, microglia, neuroinflammation, Cytology, QH573-671

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2073-4409/8/6/595Test; https://doaj.org/toc/2073-4409Test

الوصول الحر: https://doaj.org/article/a1cc28f483b44180a8ee4c7e39c3904fTest

View record in DOAJ

النص الكامل

2

Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome

المؤلفون: Jet van der Spek, Joery den Hoed, Lot Snijders Blok, Alexander J.M. Dingemans, Dick Schijven, Christoffer Nellaker, Hanka Venselaar, Galuh D.N. Astuti, Tahsin Stefan Barakat, E. Martina Bebin, Stefanie Beck-Wödl, Gea Beunders, Natasha J. Brown, Theresa Brunet, Han G. Brunner, Philippe M. Campeau, Goran Čuturilo, Christian Gilissen, Tobias B. Haack, Irina Hüning, Ralf A. Husain, Benjamin Kamien, Sze Chern Lim, Luca Lovrecic, Janine Magg, Ales Maver, Valancy Miranda, Danielle C. Monteil, Charlotte W. Ockeloen, Lynn S. Pais, Vasilica Plaiasu, Laura Raiti, Christopher Richmond, Angelika Rieß, Eva M.C. Schwaibold, Marleen E.H. Simon, Stephanie Spranger, Tiong Yang Tan, Michelle L. Thompson, Bert B.A. de Vries, Ella J. Wilkins, Marjolein H. Willemsen, Clyde Francks, Lisenka E.L.M. Vissers, Simon E. Fisher, Tjitske Kleefstra

المساهمون: Clinical Genetics, MUMC+: DA Klinische Genetica (5), Klinische Genetica, RS: GROW - R4 - Reproductive and Perinatal Medicine

المصدر: Genetics in Medicine, 24(6), 1283-1296. Lippincott Williams & Wilkins
Genetics in Medicine, 24(6), 1283-1296. Nature Publishing Group
Genetics in Medicine, 24, 1283-1296
Genetics in Medicine, 24, 6, pp. 1283-1296
Genetics in Medicine

مصطلحات موضوعية: Neuroinformatics, Heterozygote, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], DNA Helicases, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Syndrome, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], CHD3, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Reduced penetrance, Phenotype, All institutes and research themes of the Radboud University Medical Center, RARE, SDG 3 - Good Health and Well-being, Neurodevelopmental disorder, Neurodevelopmental Disorders, Variable expressivity, Humans, Nanomedicine Radboud Institute for Molecular Life Sciences [Radboudumc 19], Genetics (clinical), Mi-2 Nucleosome Remodeling and Deacetylase Complex, Inherited variants

وصف الملف: application/pdf; application/vnd.openxmlformats-officedocument.spreadsheetml.sheet

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c634fbbfbfe9fc61dcffebf9b78acf3Test
https://doi.org/10.1016/j.gim.2022.02.014Test

3

Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic diagnostics and yields new molecular findings

المؤلفون: Axel Schmidt, Magdalena Danyel, Kathrin Grundmann, Theresa Brunet, Hannah Klinkhammer, Tzung-Chien Hsieh, Hartmut Engels, Sophia Peters, Alexej Knaus, Shahida Moosa, Luisa Averdunk, Felix Boschann, Henrike Sczakiel, Sarina Schwartzmann, Martin Atta Mensah, Jean Tori Pantel, Manuel Holtgrewe, Annemarie Bösch, Claudia Weiß, Natalie Weinhold, Aude-Annick Suter, Corinna Stoltenburg, Julia Neugebauer, Tillmann Kallinich, Angela M. Kaindl, Susanne Holzhauer, Christoph Bührer, Philip Bufler, Uwe Kornak, Claus-Eric Ott, Markus Schülke, Hoa Huu Phuc Nguyen, Sabine Hoffjan, Corinna Grasemann, Tobias Rothoeft, Folke Brinkmann, Nora Matar, Sugirthan Sivalingam, Claudia Perne, Elisabeth Mangold, Martina Kreiss, Kirsten Cremer, Regina C. Betz, Tim Bender, Martin Mücke, Lorenz Grigull, Thomas Klockgether, Spier Isabel, Heimbach André, Bender Tim, Fabian Brand, Christiane Stieber, Alexandra Marzena Morawiec, Pantelis Karakostas, Valentin S. Schäfer, Sarah Bernsen, Patrick Weydt, Sergio Castro-Gomez, Ahmad Aziz, Marcus Grobe-Einsler, Okka Kimmich, Xenia Kobeleva, Demet Önder, Hellen Lesmann, Sheetal Kumar, Pawel Tacik, Min Ae Lee-Kirsch, Reinhard Berner, Catharina Schuetz, Julia Körholz, Tanita Kretschmer, Nataliya Di Donato, Evelin Schröck, André Heinen, Ulrike Reuner, Amalia-Mihaela Hanßke, Frank J. Kaiser, Eva Manka, Martin Munteanu, Alma Kuechler, Kiewert Cordula, Raphael Hirtz, Elena Schlapakow, Christian Schlein, Jasmin Lisfeld, Christian Kubisch, Theresia Herget, Maja Hempel, Christina Weiler-Normann, Kurt Ullrich, Christoph Schramm, Cornelia Rudolph, Franziska Rillig, Maximilian Groffmann, Ania Muntau, Alexandra Tibelius, Eva M. C. Schwaibold, Christian P. Schaaf, Michal Zawada, Lilian Kaufmann, Katrin Hinderhofer, Pamela M. Okun, Urania Kotzaeridou, Georg F. Hoffmann, Daniela Choukair, Markus Bettendorf, Malte Spielmann, Annekatrin Ripke, Martje Pauly, Alexander Münchau, Katja Lohmann, Irina Hüning, Britta Hanker, Tobias Bäumer, Rebecca Herzog, Yorck Hellenbroich, Dominik S. Westphal, Tim Strom, Reka Kovacs, Korbinian M. Riedhammer, Katharina Mayerhanser, Elisabeth Graf, Melanie Brugger, Julia Hoefele, Konrad Oexle, Nazanin Mirza-Schreiber, Riccardo Berutti, Ulrich Schatz, Martin Krenn, Christine Makowski, Heike Weigand, Sebastian Schröder, Meino Rohlfs, Vill Katharina, Fabian Hauck, Ingo Borggraefe, Wolfgang Müller-Felber, Ingo Kurth, Miriam Elbracht, Cordula Knopp, Matthias Begemann, Florian Kraft, Johannes R. Lemke, Julia Hentschel, Konrad Platzer, Vincent Strehlow, Rami Abou Jamra, Martin Kehrer, German Demidov, Stefanie Beck-Wödl, Holm Graessner, Marc Sturm, Lena Zeltner, Ludger J. Schöls, Janine Magg, Andrea Bevot, Christiane Kehrer, Nadja Kaiser, Denise Horn, Annette Grüters-Kieslich, Christoph Klein, Stefan Mundlos, Markus Nöthen, Olaf Riess, Thomas Meitinger, Heiko Krude, Peter M. Krawitz, Tobias Haack, Nadja Ehmke, Matias Wagner

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::51d2fffa10e3858a273179e9636175f6Test
https://doi.org/10.1101/2023.04.19.23288824Test

4

مؤتمر

Intranasal administration of mesenchymal stem cells ameliorates the abnormal dopamine transmission system and inflammatory reaction in the R6/2 mouse model of huntington disease [Abstract]

المؤلفون: Libo Yu-Taeger, Janice Stricker-Shaver, Katrin Arnold, Patrycja Bambynek-Dziuk, Arianna Novati, Elisabeth Singer, Fabian Claire, Janine Magg, Olaf Riess, Alexandra Stolzing, Lusine Danielyan, Hoa Huu Phuc Nguyen

مصطلحات موضوعية: Mechanical Engineering not elsewhere classified, untagged

العلاقة: 2134/35866; https://figshare.com/articles/conference_contribution/Intranasal_administration_of_mesenchymal_stem_cells_ameliorates_the_abnormal_dopamine_transmission_system_and_inflammatory_reaction_in_the_R6_2_mouse_model_of_huntington_disease_Abstract_/9553733Test

الإتاحة: https://figshare.com/articles/conference_contribution/Intranasal_administration_of_mesenchymal_stem_cells_ameliorates_the_abnormal_dopamine_transmission_system_and_inflammatory_reaction_in_the_R6_2_mouse_model_of_huntington_disease_Abstract_/9553733Test

View record in BASE

5

دورية أكاديمية

Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND)

المؤلفون: Gabriella Vera 1, Arthur Sorlin 2, Geoffroy Delplancq 2, François Lecoquierre 1, Marie Brasseur-Daudruy 3, Florence Petit 4, Thomas Smol 5, Alban Ziegler 6, Dominique Bonneau 6, Estelle Colin 6, Sandra Mercier 7, Benjamin Cogné 7, Stéphane Bézieau 7, Patrick Edery 8, Gaetan Lesca 8, Nicolas Chatron 8, Isabelle Sabatier 9, Bénédicte Duban-Bedu 10, Cindy Colson 11, Amélie Piton 12, Benjamin Durand 12, Yline Capri 13, Laurence Perrin 13, Antje Wiesener 14, Christiane Zweier 14, Reza Maroofian 15, Christopher J Carroll 16, Hamid Galehdari 17, Neda Mazaheri 18, Bert Callewaert 19, Fabienne Giulianno 20, Khaoula Zaafrane-Khachnaoui 21, Rebecca Buchert-Lo 22, Tobias Haack 22, Janine Magg 23, Angelika Rieß 22, Maria Blandfort 24, Stephan Waldmüller 22, Veronka Horber 23, Emanuela Leonardi, Roberta Polli, Licia Turolla 26, Alessandra Murgia, Thierry Frebourg 1, Anne Sophie Lebre 28, Gaël Nicolas 1, Pascale Saugier-Veber 1, Anne-Marie Guerrot 29

المساهمون: 1, Gabriella Vera, 2, Arthur Sorlin, 2, Geoffroy Delplancq, 1, François Lecoquierre, 3, Marie Brasseur-Daudruy, 4, Florence Petit, 5, Thomas Smol, 6, Alban Ziegler, 6, Dominique Bonneau, 6, Estelle Colin, 7, Sandra Mercier, 7, Benjamin Cogné, 7, Stéphane Bézieau, 8, Patrick Edery, 8, Gaetan Lesca, 8, Nicolas Chatron, 9, Isabelle Sabatier, Duban-Bedu 10, Bénédicte, Colson 11, Cindy, Piton 12, Amélie, Durand 12, Benjamin, Capri 13, Yline, Perrin 13, Laurence, Wiesener 14, Antje, Zweier 14, Christiane, Maroofian 15, Reza, J Carroll 16, Christopher, Galehdari 17, Hamid, Mazaheri 18, Neda, Callewaert 19, Bert, Giulianno 20, Fabienne, Zaafrane-Khachnaoui 21, Khaoula, Buchert-Lo 22, Rebecca, Haack 22, Tobia, Magg 23, Janine, Rieß 22, Angelika, Blandfort 24, Maria, Waldmüller 22, Stephan, Horber 23, Veronka, Leonardi, Emanuela, Polli, Roberta, Turolla 26, Licia, Murgia, Alessandra, 1, Thierry Frebourg, Sophie Lebre 28, Anne, 1, Gaël Nicola, 1, Pascale Saugier-Veber, Guerrot 29, Anne-Marie

مصطلحات موضوعية: GATAD2B, Developmental delay, Intellectual disability, Next-generation sequencing

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32688057; info:eu-repo/semantics/altIdentifier/wos/WOS:000573094100002; volume:63; issue:10; firstpage:1; lastpage:10; numberofpages:10; journal:EUROPEAN JOURNAL OF MEDICAL GENETICS; http://hdl.handle.net/11577/3391277Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85089246670

الإتاحة: https://doi.org/10.1016/j.ejmg.2020.104004Test
http://hdl.handle.net/11577/3391277Test

View record in BASE

6

Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND)

المؤلفون: Gaël Nicolas, Yline Capri, Alban Ziegler, Christiane Zweier, Bénédicte Duban-Bedu, Roberta Polli, Neda Mazaheri, Alessandra Murgia, Cindy Colson, Pascale Saugier-Veber, Reza Maroofian, Laurence Perrin, François Lecoquierre, Stephan Waldmüller, Benjamin Cogné, Angelika Rieß, A.S. Lebre, M. Brasseur-Daudruy, Bert Callewaert, Antje Wiesener, Anne-Marie Guerrot, Thierry Frebourg, Thomas Smol, Benjamin Durand, Rebecca Buchert-Lo, Veronka Horber, Tobias B. Haack, Patrick Edery, Gabriella Vera, Gaetan Lesca, Geoffroy Delplancq, Sandra Mercier, Christopher Carroll, Maria Blandfort, Khaoula Zaafrane-Khachnaoui, Hamid Galehdari, Emanuela Leonardi, Arthur Sorlin, Fabienne Giulianno, Isabelle Sabatier, Florence Petit, Licia Turolla, Nicolas Chatron, Amélie Piton, Janine Magg, Estelle Colin, Stéphane Bézieau, Dominique Bonneau

المساهمون: Génomique et Médecine Personnalisée du Cancer et des Maladies Neuropsychiatriques (GPMCND), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service d'imagerie médicale [CHU Rouen], Hôpital Charles Nicolle [Rouen]-CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Biologie Neurovasculaire et Mitochondriale Intégrée (BNMI), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service de génétique [Angers], Université d'Angers (UA)-Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM), Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), Service de Génétique Médicale, Centre hospitalier universitaire de Nantes (CHU Nantes), Laboratoire de Génétique Moléculaire, Service de cytogénétique constitutionnelle, Hospices Civils de Lyon (HCL)-CHU de Lyon-Centre Neuroscience et Recherche, Centre de recherche en neurosciences de Lyon (CRNL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet [Saint-Étienne] (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Lyon Sud [CHU - HCL] (CHLS), Hospices Civils de Lyon (HCL), Centre de Génétique Chromosomique, Hôpital Saint Vincent de Paul-GHICL, Service de Génétique Clinique [CHU Caen], Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Laboratoire de Génétique Moléculaire [CHRU Strasbourg], CHRU Strasbourg, Université de Montpellier (UM), Département de génétique [Robert Debré], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP Hôpital universitaire Robert-Debré [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Hôpital Robert Debré Paris, Hôpital Robert Debré, Institute of Human Genetics [Erlangen, Allemagne], Friedrich-Alexander Universität Erlangen-Nürnberg (FAU), Molecular and Clinical Sciences Institute - St George’s [London, UK] (Genetics Research Centre), University of London [London], Center for Medical Genetics [Ghent], Ghent University Hospital, Institute of Human Genetics, Technische Universität Munchen - Université Technique de Munich [Munich, Allemagne] (TUM)-Helmholtz-Zentrum München (HZM)-German Research Center for Environmental Health, Human Genetics, Fondation Jean Dausset - Centre d’Étude du Polymorphisme Humain

المصدر: European Journal of Medical Genetics
European Journal of Medical Genetics, Elsevier, 2020, pp.104004. ⟨10.1016/j.ejmg.2020.104004⟩

مصطلحات موضوعية: Male, Pediatrics, Developmental delay, [SDV]Life Sciences [q-bio], GATA Transcription Factors, GATAD2B, Developmental delay, Intellectual disability, Next-generation sequencing, GATAD2B, Epilepsy, 0302 clinical medicine, Neurodevelopmental disorder, Pregnancy, Intellectual disability, Hypertelorism, Child, Genetics (clinical), ComputingMilieux_MISCELLANEOUS, Sequence Deletion, 0303 health sciences, Brain, High-Throughput Nucleotide Sequencing, General Medicine, Magnetic Resonance Imaging, Hypotonia, 3. Good health, Phenotype, Child, Preschool, Muscle Hypotonia, Female, medicine.symptom, Adult, medicine.medical_specialty, Adolescent, Speech Disorders, 03 medical and health sciences, Disease severity, Intellectual Disability, Genetics, medicine, Humans, 030304 developmental biology, business.industry, Macrocephaly, Infant, medicine.disease, Megalencephaly, Repressor Proteins, Neurodevelopmental Disorders, Face, Next-generation sequencing, business, 030217 neurology & neurosurgery