Zobrazeno 1 - 10
of 47
pro vyhledávání: '"Julia M Schulze-Hentrich"'
Autor:
Samantha L. Schaffner, Zinah Wassouf, Thomas Hentrich, Melanie Nuesch-Germano, Michael S. Kobor, Julia M. Schulze-Hentrich
Publikováno v:
Neurobiology of Disease, Vol 186, Iss , Pp 106274- (2023)
Elevated alpha-synuclein (SNCA) gene expression is associated with transcriptional deregulation and increased risk of Parkinson's disease, which may be partially ameliorated by environmental enrichment. At the molecular level, there is emerging evide
Externí odkaz:
https://doaj.org/article/4648fa4892ae4b0987d37c7733ea941c
Autor:
Rahel Fitzel, Kathy-Ann Secker-Grob, Hildegard Keppeler, Fulya Korkmaz, Rebekka Schairer, Estelle Erkner, Dominik Schneidawind, Claudia Lengerke, Thomas Hentrich, Julia M. Schulze-Hentrich, Corina Schneidawind
Publikováno v:
Neoplasia: An International Journal for Oncology Research, Vol 41, Iss , Pp 100902- (2023)
MLL rearranged (MLLr) leukemias are associated with a poor prognosis and a limited response to conventional therapies. Moreover, chemotherapies result in severe side effects with significant impairment of the immune system. Therefore, the identificat
Externí odkaz:
https://doaj.org/article/5a2bbb231dbd41e0b156cb49a9804d52
Autor:
Adam Jackson, Sheng-Jia Lin, Elizabeth A. Jones, Kate E. Chandler, David Orr, Celia Moss, Zahra Haider, Gavin Ryan, Simon Holden, Mike Harrison, Nigel Burrows, Wendy D. Jones, Mary Loveless, Cassidy Petree, Helen Stewart, Karen Low, Deirdre Donnelly, Simon Lovell, Konstantina Drosou, Gaurav K. Varshney, Siddharth Banka, J.C. Ambrose, P. Arumugam, R. Bevers, M. Bleda, F. Boardman-Pretty, C.R. Boustred, H. Brittain, M.A. Brown, M.J. Caulfield, G.C. Chan, A. Giess, J.N. Griffin, A. Hamblin, S. Henderson, T.J.P. Hubbard, R. Jackson, L.J. Jones, D. Kasperaviciute, M. Kayikci, A. Kousathanas, L. Lahnstein, A. Lakey, S.E.A. Leigh, I.U.S. Leong, F.J. Lopez, F. Maleady-Crowe, M. McEntagart, F. Minneci, J. Mitchell, L. Moutsianas, M. Mueller, N. Murugaesu, A.C. Need, P. O‘Donovan, C.A. Odhams, C. Patch, D. Perez-Gil, M.B. Pereira, J. Pullinger, T. Rahim, A. Rendon, T. Rogers, K. Savage, K. Sawant, R.H. Scott, A. Siddiq, A. Sieghart, S.C. Smith, A. Sosinsky, A. Stuckey, M. Tanguy, A.L. Taylor Tavares, E.R.A. Thomas, S.R. Thompson, A. Tucci, M.J. Welland, E. Williams, K. Witkowska, S.M. Wood, M. Zarowiecki, Olaf Riess, Tobias B. Haack, Holm Graessner, Birte Zurek, Kornelia Ellwanger, Stephan Ossowski, German Demidov, Marc Sturm, Julia M. Schulze-Hentrich, Rebecca Schüle, Christoph Kessler, Melanie Wayand, Matthis Synofzik, Carlo Wilke, Andreas Traschütz, Ludger Schöls, Holger Hengel, Peter Heutink, Han Brunner, Hans Scheffer, Nicoline Hoogerbrugge, Alexander Hoischen, Peter A.C. ’t Hoen, Lisenka E.L.M. Vissers, Christian Gilissen, Wouter Steyaert, Karolis Sablauskas, Richarda M. de Voer, Erik-Jan Kamsteeg, Bart van de Warrenburg, Nienke van Os, Iris te Paske, Erik Janssen, Elke de Boer, Marloes Steehouwer, Burcu Yaldiz, Tjitske Kleefstra, Anthony J. Brookes, Colin Veal, Spencer Gibson, Marc Wadsley, Mehdi Mehtarizadeh, Umar Riaz, Greg Warren, Farid Yavari Dizjikan, Thomas Shorter, Ana Töpf, Volker Straub, Chiara Marini Bettolo, Sabine Specht, Jill Clayton-Smith, Elizabeth Alexander, Laurence Faivre, Christel Thauvin, Antonio Vitobello, Anne-Sophie Denommé-Pichon, Yannis Duffourd, Emilie Tisserant, Ange-Line Bruel, Christine Peyron, Aurore Pélissier, Sergi Beltran, Ivo Glynne Gut, Steven Laurie, Davide Piscia, Leslie Matalonga, Anastasios Papakonstantinou, Gemma Bullich, Alberto Corvo, Carles Garcia, Marcos Fernandez-Callejo, Carles Hernández, Daniel Picó, Ida Paramonov, Hanns Lochmüller, Gulcin Gumus, Virginie Bros-Facer, Ana Rath, Marc Hanauer, Annie Olry, David Lagorce, Svitlana Havrylenko, Katia Izem, Fanny Rigour, Giovanni Stevanin, Alexandra Durr, Claire-Sophie Davoine, Léna Guillot-Noel, Anna Heinzmann, Giulia Coarelli, Gisèle Bonne, Teresinha Evangelista, Valérie Allamand, Isabelle Nelson, Rabah Ben Yaou, Corinne Metay, Bruno Eymard, Enzo Cohen, Antonio Atalaia, Tanya Stojkovic, Milan Macek, Jr., Marek Turnovec, Dana Thomasová, Radka Pourová Kremliková, Vera Franková, Markéta Havlovicová, Vlastimil Kremlik, Helen Parkinson, Thomas Keane, Dylan Spalding, Alexander Senf, Peter Robinson, Daniel Danis, Glenn Robert, Alessia Costa, Christine Patch, Mike Hanna, Henry Houlden, Mary Reilly, Jana Vandrovcova, Francesco Muntoni, Irina Zaharieva, Anna Sarkozy, Vincent Timmerman, Jonathan Baets, Liedewei Van de Vondel, Danique Beijer, Peter de Jonghe, Vincenzo Nigro, Sandro Banfi, Annalaura Torella, Francesco Musacchia, Giulio Piluso, Alessandra Ferlini, Rita Selvatici, Rachele Rossi, Marcella Neri, Stefan Aretz, Isabel Spier, Anna Katharina Sommer, Sophia Peters, Carla Oliveira, Jose Garcia Pelaez, Ana Rita Matos, Celina São José, Marta Ferreira, Irene Gullo, Susana Fernandes, Luzia Garrido, Pedro Ferreira, Fátima Carneiro, Morris A. Swertz, Lennart Johansson, Joeri K. van der Velde, Gerben van der Vries, Pieter B. Neerincx, Dieuwke Roelofs-Prins, Sebastian Köhler, Alison Metcalfe, Alain Verloes, Séverine Drunat, Caroline Rooryck, Aurelien Trimouille, Raffaele Castello, Manuela Morleo, Michele Pinelli, Alessandra Varavallo, Manuel Posada De la Paz, Eva Bermejo Sánchez, Estrella López Martín, Beatriz Martínez Delgado, F. Javier Alonso García de la Rosa, Andrea Ciolfi, Bruno Dallapiccola, Simone Pizzi, Francesca Clementina Radio, Marco Tartaglia, Alessandra Renieri, Elisa Benetti, Peter Balicza, Maria Judit Molnar, Ales Maver, Borut Peterlin, Alexander Münchau, Katja Lohmann, Rebecca Herzog, Martje Pauly, Alfons Macaya, Anna Marcé-Grau, Andres Nascimiento Osorio, Daniel Natera de Benito, Rachel Thompson, Kiran Polavarapu, David Beeson, Judith Cossins, Pedro M. Rodriguez Cruz, Peter Hackman, Mridul Johari, Marco Savarese, Bjarne Udd, Rita Horvath, Gabriel Capella, Laura Valle, Elke Holinski-Feder, Andreas Laner, Verena Steinke-Lange, Evelin Schröck, Andreas Rump
Publikováno v:
HGG Advances, Vol 4, Iss 2, Pp 100186- (2023)
Summary: TSPEAR variants cause autosomal recessive ectodermal dysplasia (ARED) 14. The function of TSPEAR is unknown. The clinical features, the mutation spectrum, and the underlying mechanisms of ARED14 are poorly understood. Combining data from new
Externí odkaz:
https://doaj.org/article/2978ae9e34b04565adb7415c6d46eb52
Autor:
Sara Y. Brucker, Thomas Hentrich, Julia M. Schulze-Hentrich, Martin Pietzsch, Noel Wajngarten, Anjali Ralhan Singh, Katharina Rall, André Koch
Publikováno v:
Disease Models & Mechanisms, Vol 15, Iss 5 (2022)
The uterus is responsible for the nourishment and mechanical protection of the developing embryo and fetus and is an essential part in mammalian reproduction. Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome is characterized by agenesis of the u
Externí odkaz:
https://doaj.org/article/a7b21c9aa2ba4d5e8f510dba538da90f
Publikováno v:
Frontiers in Neuroscience, Vol 16 (2022)
Externí odkaz:
https://doaj.org/article/e73c93d3ff0a4580b6a4d14365d331b8
Autor:
Rebecca Buchert, Elisabeth Schenk, Thomas Hentrich, Nico Weber, Katharina Rall, Marc Sturm, Oliver Kohlbacher, André Koch, Olaf Riess, Sara Y. Brucker, Julia M. Schulze-Hentrich
Publikováno v:
Journal of Clinical Medicine, Vol 11, Iss 19, p 5598 (2022)
To identify potential genetic causes for Mayer-Rokitansky-Küster-Hauser syndrome (MRKH), we analyzed blood and rudimentary uterine tissue of 5 MRKH discordant monozygotic twin pairs. Assuming that a variant solely identified in the affected twin or
Externí odkaz:
https://doaj.org/article/5ada705bcf734fa98ab0d62a99aa5384
Autor:
Isabel Paiva, Gaurav Jain, Diana F. Lázaro, Kristina Gotovac Jerčić, Thomas Hentrich, Cemil Kerimoglu, Raquel Pinho, Èva M. Szegő, Susanne Burkhardt, Vincenzo Capece, Rashi Halder, Rezaul Islam, Mary Xylaki, Lucas A. Caldi Gomes, Anna-Elisa Roser, Paul Lingor, Julia M. Schulze-Hentrich, Fran Borovečki, André Fischer, Tiago F. Outeiro
Publikováno v:
Neurobiology of Disease, Vol 119, Iss , Pp 121-135 (2018)
Alpha-synuclein (aSyn) is the major protein component of Lewy bodies and Lewy neurites, the typical pathological hallmarks in Parkinson's disease (PD) and Dementia with Lewy bodies. aSyn is capable of inducing transcriptional deregulation, but the pr
Externí odkaz:
https://doaj.org/article/75ce3a76847041c5a470e50f98fcc59a
Autor:
Mary Xylaki, Isabel Paiva, Mohammed Al-Azzani, Ellen Gerhardt, Gaurav Jain, Md Rezaul Islam, Eftychia Vasili, Zinah Wassouf, Julia M. Schulze-Hentrich, André Fischer, Tiago Fleming Outeiro
Publikováno v:
Journal of Parkinson's Disease : JPD
Journal of Parkinson's Disease 13(2), 179-196 (2023). doi:10.3233/JPD-225055
Journal of Parkinson's Disease 13(2), 179-196 (2023). doi:10.3233/JPD-225055
Background:Synucleinopathies are disorders characterized by the abnormal accumulation of α-synuclein (aSyn). Synaptic compromise is observed in synucleinopathies parallel to aSyn aggregation and is accompanied by transcript deregulation.Objective:We
Autor:
Libo Yu-Taeger, Thomas Ott, Paola Bonsi, Celina Tomczak, Zinah Wassouf, Giuseppina Martella, Giuseppe Sciamanna, Paola Imbriani, Giulia Ponterio, Annalisa Tassone, Julia M. Schulze-Hentrich, Rose Goodchild, Olaf Riess, Antonio Pisani, Kathrin Grundmann-Hauser, Huu Phuc Nguyen
Publikováno v:
Neurobiology of Disease, Vol 134, Iss , Pp - (2020)
Dystonia is a neurological movement disorder characterized by sustained or intermittent involuntary muscle contractions. Loss-of-function mutations in the GNAL gene have been identified to be the cause of “isolated” dystonia DYT25. The GNAL gene
Externí odkaz:
https://doaj.org/article/8a71ddea79364ff685249d5e5644b2ff
Publikováno v:
Frontiers in Neurology, Vol 10 (2019)
Parkinson's disease (PD) is the most common neurodegenerative movement disorder that affects extensive regions of the nervous system. Its current clinical diagnosis is based on motor symptoms that appear late during disease progression when substanti
Externí odkaz:
https://doaj.org/article/64726dde3be649ebae9484406686eabc