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Eine Ebene höherGruppiert nach: Dokumententyp |
Veröffentlichungsdatum
Anzahl der Publikationen: 7
2023
Zibold, Julia; Lessard, Lola E. R.; Picard, Flavien; da Silva, Lara Gruijs; Zadorozhna, Yelyzaveta; Streichenberger, Nathalie; Belotti, Edwige; Osseni, Alexis; Emerit, Andrea; Errazuriz-Cerda, Elisabeth; Michel-Calemard, Laurence; Menassa, Rita; Coudert, Laurent; Wiessner, Manuela; Stucka, Rolf; Klopstock, Thomas; Simonetti, Francesca; Hutten, Saskia; Nonaka, Takashi; Hasegawa, Masato; Strom, Tim M.; Bernard, Emilien; Ollagnon, Elisabeth; Urtizberea, Andoni; Dormann, Dorothee; Petiot, Philippe; Schaeffer, Laurent; Senderek, Jan und Leblanc, Pascal
(2023):
The new missense G376V-TDP-43 variant induces late-onset distal myopathy but not amyotrophic lateral sclerosis.
In: Brain
[PDF, 1MB]
2021
Wiessner, Manuela; Maroofian, Reza; Ni, Meng-Yuan; Pedroni, Andrea; Müller, Juliane S.; Stucka, Rolf; Beetz, Christian; Efthymiou, Stephanie; Santorelli, Filippo M.; Alfares, Ahmed A.; Zhu, Changlian; Meszarosova, Anna Uhrova; Alehabib, Elham; Bakhtiari, Somayeh; Janecke, Andreas R.; Otero, Maria Gabriela; Chen, Jin Yun Helen; Peterson, James T.; Strom, Tim M.; De Jonghe, Peter; Deconinck, Tine; Ridder, Willem de; Winter, Jonathan de; Pasquariello, Rossella; Ricca, Ivana; Alfadhel, Majid; Warrenburg, Bart P. van de; Portier, Ruben; Bergmann, Carsten; Firouzabadi, Saghar Ghasemi; Jin, Sheng Chih; Bilguvar, Kaya; Hamed, Sherifa; Abdelhameed, Mohammed; Haridy, Nourelhoda A.; Maqbool, Shazia; Rahman, Fatima; Anwar, Najwa; Carmichael, Jenny; Pagnamenta, Alistair; Wood, Nick W.; Mau-Them, Frederic Tran; Haack, Tobias; Di Rocco, Maja; Ceccherini, Isabella; Iacomino, Michele; Zara, Federico; Salpietro, Vincenzo; Scala, Marcello; Rusmini, Marta; Xu, Yiran; Wang, Yinghong; Suzuki, Yasuhiro; Koh, Kishin; Nan, Haitian; Ishiura, Hiroyuki; Tsuji, Shoji; Lambert, Laetitia; Schmitt, Emmanuelle; Lacaze, Elodie; Küpper, Hanna; Dredge, David; Skraban, Cara; Goldstein, Amy; Willis, Mary J. H.; Grand, Katheryn; Graham, John M.; Lewis, Richard A.; Millan, Francisca; Duman, Özgür; Dündar, Nihal; Uyanik, Gökhan; Schols, Ludger; Nuernberg, Peter; Nürnberg, Gudrun; Bordes, Andrea Catala; Seeman, Pavel; Kuchar, Martin; Darvish, Hossein; Rebelo, Adriana; Boucanova, Filipa; Medard, Jean-Jacques; Chrast, Roman; Auer-Grumbach, Michaela; Alkuraya, Fowzan S.; Shamseldin, Hanan; Al Tala, Saeed; Varaghchi, Jamileh Rezazadeh; Najafi, Maryam; Deschner, Selina; Gläser, Dieter; Hüttel, Wolfgang; Kruer, Michael C.; Kamsteeg, Erik-Jan; Takiyama, Yoshihisa; Züchner, Stephan; Baets, Jonathan; Synofzik, Matthis; Schüle, Rebecca; Horvath, Rita; Houlden, Henry; Bartesaghi, Luca; Lee, Hwei-Jen; Ampatzis, Konstantinos; Pierson, Tyler Mark und Senderek, Jan
(2021):
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
In: Brain, Bd. 144: S. 1422-1434
2019
Bartesaghi, Luca; Wang, Yiqiao; Fontanet, Paula; Wanderoy, Simone; Berger, Finja; Wu, Haohao; Akkuratova, Natalia; Boucanova, Filipa; Medard, Jean-Jacques; Petitpre, Charles; Landy, Mark A.; Zhang, Ming-Dong; Harrer, Philip; Stendel, Claudia; Stucka, Rolf; Dusl, Marina; Kastriti, Maria Eleni; Croci, Laura; Lai, Helen C.; Consalez, Gian Giacomo; Pattyn, Alexandre; Ernfors, Patrik; Senderek, Jan; Adameyko, Igor; Lallemend, Francois; Hadjab, Saida und Chrast, Roman
(2019):
PRDM12 Is Required for Initiation of the Nociceptive Neuron Lineage during Neurogenesis.
In: Cell Reports, Bd. 26, Nr. 13
Baumann, Matthias; Schreiber, Herbert; Schlotter-Weigel, Beate; Loescher, Wolfgang N.; Stucka, Rolf; Karall, Daniela; Strom, Tim M.; Bauer, Peter; Krabichler, Birgit; Fauth, Christine; Glaeser, Dieter und Senderek, Jan
(2019):
MPV17 mutations in juvenile- and adult-onset axonal sensorimotor polyneuropathy.
In: Clinical Genetics, Bd. 95, Nr. 1: S. 182-186
2018
Shashi, Vandana; Magiera, Maria M.; Klein, Dennis; Zaki, Maha; Schoch, Kelly; Rudnik-Schöneborn, Sabine; Norman, Andrew; Neto, Osorio Lopes Abath; Dusl, Marina; Yuan, Xidi; Bartesaghi, Luca; De Marco, Patrizia; Alfares, Ahmed A.; Marom, Ronit; Arold, Stefan T.; Guzman-Vega, Francisco J.; Pena, Loren D. M.; Smith, Edward C.; Steinlin, Maja; Babiker, Mohamed O. E.; Mohassel, Payam; Foley, A. Reghan; Donkervoort, Sandra; Kaur, Rupleen; Ghosh, Partha S.; Stanley, Valentina; Musaev, Damir; Nava, Caroline; Mignot, Cyril; Keren, Boris; Scala, Marcello; Tassano, Elisa; Picco, Paolo; Doneda, Paola; Fiorillo, Chiara; Issa, Mahmoud Y.; Alassiri, Ali; Alahmad, Ahmed; Gerard, Amanda; Liu, Pengfei; Yang, Yaping; Ertl-Wagner, Birgit; Kranz, Peter G.; Wentzensen, Ingrid M.; Stucka, Rolf; Stong, Nicholas; Allen, Andrew S.; Goldstein, David B.; Schoser, Benedikt; Rosler, Kai M.; Alfadhel, Majid; Capra, Valeria; Chrast, Roman; Strom, Tim M.; Kamsteeg, Erik-Jan; Bonnemann, Carsten G.; Gleeson, Joseph G.; Martini, Rudolf; Janke, Carsten und Senderek, Jan
(2018):
Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration.
In: EMBO Journal, Bd. 37, Nr. 23, e100540
2017
Wiessner, Manuela; Roos, Andreas; Munn, Christopher J.; Viswanathan, Ranjith; Whyte, Tamieka; Cox, Dan; Schoser, Benedikt; Sewry, Caroline; Roper, Helen; Phadke, Rahul; Bettolo, Chiara Marini; Barresi, Rita; Charlton, Richard; Bönnemann, Carsten G.; Neto, Osorio Abath; Reed, Umbertina C.; Zanoteli, Edmar; Moreno, Cristiane Araujo Martins; Ertl-Wagner, Birgit; Stucka, Rolf; Goede, Christian de; Silva, Tamiris Borges da; Hathazi, Denisa; Dell'Aica, Margherita; Zahedi, Rene P.; Thiele, Simone; Müller, Juliane; Kingston, Helen; Müller, Susanna; Curtis, Elizabeth; Walter, Maggie C.; Strom, Tim M.; Straub, Volker; Bushby, Kate; Muntoni, Francesco; Swan, Laura E.; Lochmüller, Hanns und Senderek, Jan
(2017):
Mutations in INPPSK, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment.
In: American Journal of Human Genetics, Bd. 100, Nr. 3: S. 523-536
[PDF, 2MB]
2016
Bialek, Julia K.; Dunay, Gábor A.; Voges, Maike; Schäfer, Carola; Spohn, Michael; Stucka, Rolf; Hauber, Joachim und Lange, Ulrike C.
(2016):
Targeted HIV-1 Latency Reversal Using CRISPR/Cas9-Derived Transcriptional Activator Systems.
In: PLOS ONE 11(6), e0158294 [PDF, 2MB]
In: PLOS ONE 11(6), e0158294 [PDF, 2MB]