Ohcanbohtosat - Rolf Stucka
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A 3'-UTR mutation creates a microRNA target site in the GFPT1 gene of patients with congenital myasthenic syndrome Dahkki Marina Dusl, Jan Senderek, Juliane S. Müller, Johannes G. Vogel, Anja Pertl, Rolf Stucka, Hanns Lochmüller, Robert David, Angela Abicht
Almmustuhtton 2015Artigo -
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Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK Dahkki Constanze Gallenmüller, Wolfgang Müller‐Felber, Marina Dusl, Rolf Stucka, Velina Guergueltcheva, Astrid Blaschek, Maja von der Hagen, Angela Huebner, Juliane S. Müller, Hanns Lochmüller, Angela Abicht
Almmustuhtton 2013Artigo -
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Molecular characterisation of congenital myasthenic syndromes in Southern Brazil Dahkki Violeta Mihaylova, Rosana Hermínia Scola, Bianca Lamas Gervini, Paulo José Lorenzoni, Claudia Kay, Lineu César Werneck, Rolf Stucka, Velina Guergueltcheva, Maja von der Hagen, Angela Huebner, Angela Abicht, Juliane S. Müller, Hanns Lochmüller
Almmustuhtton 2010Artigo -
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Highly Significant Antiviral Activity of HIV-1 LTR-Specific Tre-Recombinase in Humanized Mice Dahkki Ilona Hauber, Helga Hofmann-Sieber, Jan Chemnitz, Danilo Dubrau, Janet Chusainow, Rolf Stucka, Philip Hartjen, Axel Schambach, Patrick Ziegler, Karl Hackmann, Evelin Schröck, Udo Schumacher, Christoph Lindner, Adam Grundhoff, Christopher Baum, Markus G. Manz, Frank Buchholz, Joachim Hauber
Almmustuhtton 2013Artigo -
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FKRP (826C>A) frequently causes limb-girdle muscular dystrophy in German patients Dahkki Maggie C. Walter, Jens A. Petersen, Rolf Stucka, Dirk Fischer, Rolf Schröder, Matthias Vorgerd, Anja Schroers, Herbert Schreiber, C. Oliver Hanemann, U Knirsch, Angela Rosenbohm, Angela Huebner, Nina Barišić, Rita Horváth, Sámuel Komoly, Peter Reilich, Wolfgang Müller‐Felber, D Pongratz, Juliane S. Müller, Ennes A. Auerswald, Hanns Lochmüller
Almmustuhtton 2004Artigo -
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PRDM12 Is Required for Initiation of the Nociceptive Neuron Lineage during Neurogenesis Dahkki Luca Bartesaghi, Yiqiao Wang, Paula Fontanet, Simone Wanderoy, Finja Berger, Haohao Wu, Natalia Akkuratova, Filipa Bouçanova, J Medard, Charles Petitpré, Mark A. Landy, Ming-Dong Zhang, Philip Harrer, Claudia Stendel, Rolf Stucka, Marina Dusl, Maria Eleni Kastriti, Laura Croci, Helen C. Lai, G. Giacomo Consalez, Alexandre Pattyn, Patrik Ernfors, Jan Senderek, Igor Adameyko, François Lallemend, Saïda Hadjab, Roman Chrast
Almmustuhtton 2019Artigo -
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Mutations in INPP5K , Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment Dahkki Manuela Wiessner, Andreas Roos, Christopher J. Munn, Ranjith Viswanathan, Tamieka Whyte, Dan Cox, Benedikt Schoser, Caroline A. Sewry, Helen Roper, Rahul Phadke, Chiara Marini Bettolo, Rita Barresi, Richard Charlton, Carsten G. Bönnemann, Osório Lopes Abath Neto, Umbertina Conti Reed, Edmar Zanoteli, Cristiane Araújo Martins Moreno, Birgit Ertl‐Wagner, Rolf Stucka, Christian de Goede, Tamiris Borges da Silva, Denisa Hathazi, Margherita Dell’Aica, René P. Zahedi, Simone Thiele, Juliane Müller, Helen Kingston, Susanna Müller, Elizabeth Curtis, Maggie C. Walter, Tim M. Strom, Volker Straub, Kate Bushby, Francesco Muntoni, Laura E. Swan, Hanns Lochmüller, Jan Senderek
Almmustuhtton 2017Artigo -
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Loss of tubulin deglutamylase <scp>CCP</scp> 1 causes infantile‐onset neurodegeneration Dahkki Vandana Shashi, Maria M. Magiera, Dennis Klein, Maha S. Zaki, Kelly Schoch, Sabine Rudnik–Schöneborn, Andrew Norman, Osório Lopes Abath Neto, Marina Dusl, Xidi Yuan, Luca Bartesaghi, Patrizia De Marco, Ahmed Alfares, Ronit Marom, Stefan T. Arold, Francisco J. Guzmán‐Vega, Loren Peña, Edward C. Smith, Maja Steinlin, Mohamed OE Babiker, Payam Mohassel, A. Reghan Foley, Sandra Donkervoort, Rupleen Kaur, Partha S. Ghosh, Valentina Stanley, Damir Musaev, Caroline Nava, Cyril Mignot, Boris Keren, Marcello Scala, Elisa Tassano, Paolo Picco, Paola Doneda, Chiara Fiorillo, Mahmoud Y. Issa, Ali H. Alassiri, Ahmed Alahmad, Amanda Gerard, Pengfei Liu, Yaping Yang, Birgit Ertl‐Wagner, Peter G. Kranz, Ingrid M. Wentzensen, Rolf Stucka, Nicholas Stong, Andrew S. Allen, David B. Goldstein, Benedikt Schoser, Kai M. Rösler, Majid Alfadhel, Valeria Capra, Roman Chrast, Tim M. Strom, Erik‐Jan Kamsteeg, Carsten G. Bönnemann, Joseph G. Gleeson, Rudolf Martini, Carsten Janke, Jan Senderek
Almmustuhtton 2018Artigo -
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Transcriptional regulator PRDM12 is essential for human pain perception Dahkki Ya-Chun Chen, Michaela Auer‐Grumbach, Shinya Matsukawa, Manuela Zitzelsberger, Andreas C. Themistocleous, Tim M. Strom, Chrysanthi Samara, Adrian W. Moore, Lily Ting-Yin Cho, Gareth T. Young, Caecilia Weiss, Maria Schabhüttl, Rolf Stucka, Annina B. Schmid, Yeşim Parman, Luitgard Graul‐Neumann, Wolfram Heinritz, Eberhard Passarge, Rosemarie M. Watson, Jens Michael Hertz, Ute Moog, Manuela Baumgärtner, Enza Maria Valente, Diego Pereira, Carlos Martín Restrepo, István Katona, Marina Dusl, Claudia Stendel, Thomas Wieland, Fay Stafford, Frank Reimann, Katja von Au, Christian Finke, Patrick J. Willems, Michael S. Nahorski, Samiha S. Shaikh, Ofélia P. Carvalho, Adeline K. Nicholas, Gulshan Karbani, Maeve A. McAleer, Maria Roberta Cilio, John C. McHugh, Sinéad M. Murphy, Alan D. Irvine, Uffe Birk Jensen, Reinhard Windhager, Joachim Weis, Carsten Bergmann, Bernd Rautenstrauß, Jonathan Baets, Peter De Jonghe, Mary M. Reilly, Regina Kropatsch, Ingo Kurth, Roman Chrast, Tatsuo Michiue, David Bennett, C. Geoffrey Woods, Jan Senderek
Almmustuhtton 2015Artigo -
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Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies Dahkki Annette Lischka, Katja Eggermann, Christopher J. Record, Maike F. Dohrn, Petra Laššuthová, Florian Kraft, Matthias Begemann, Daniela Dey, Thomas Eggermann, Danique Beijer, Jana Šoukalová, Matilde Laurá, Alexander M. Rossor, Radim Mazanec, Jonas Van Lent, Pedro José Tomaselli, Martin Ungelenk, Karlien Debus, Shawna Feely, Dieter Gläser, Sujatha Jagadeesh, Madelena Martin, Geeta Govindaraj, Pratibha Singhi, Revanth Baineni, Niranjan Biswal, Marisol Ibarra‐Ramírez, M Bonduelle, Burkhard Gess, Juan Romero Sánchez, Renu Suthar, Vrajesh Udani, Atchayaram Nalini, Gopikrishnan Unnikrishnan, Wilson Marques, Sandra Mercier, Vincent Procaccio, Céline Bris, Beena Suresh, Vaishnavi Reddy, Mariola Skorupinska, Nathalie Bonello‐Palot, Fanny Mochel, Georg Dahl, Karthika Sasidharan, Fiji Madona Devassikutty, Sheela Nampoothiri, Maria Juliana R. Doriqui, Wolfgang Müller‐Felber, Katharina Vill, Tobias B. Haack, Andreas Dufke, Michael Abele, Rolf Stucka, Saima Siddiqi, Noor Ullah, Stephanie Spranger, Deborah Chiabrando, Behiye Bolgül, Yeşim Parman, Pavel Seeman, Angelika Lampert, Jörg B. Schulz, John N. Wood, James J. Cox, Michaela Auer‐Grumbach, Vincent Timmerman, Jonathan De Winter, Andreas C. Themistocleous, Michael E. Shy, David Bennett, Jonathan Baets, Christian A. Hübner, Enrico Leipold, Stephan Züchner, Miriam Elbracht, Arman Çakar, Jan Senderek, Thorsten Hornemann, C. Geoffrey Woods, Mary M. Reilly, Ingo Kurth
Almmustuhtton 2023Artigo -
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Biallelic variants in <i>HPDL</i> cause pure and complicated hereditary spastic paraplegia Dahkki Manuela Wiessner, Reza Maroofian, Meng-Yuan Ni, Andrea Pedroni, Juliane Müller, Rolf Stucka, Christian Beetz, Stéphanie Efthymiou, Filippo M. Santorelli, Ahmed Alfares, Changlian Zhu, Anna Uhrová Mészárosová, Elham Alehabib, Somayeh Bakhtiari, Andreas Janecke, María Gabriela Otero, Jin Yun Helen Chen, James T Peterson, Tim M. Strom, Peter De Jonghe, Tine Deconinck, Willem De Ridder, Jonathan De Winter, Rossella Pasquariello, Ivana Ricca, Majid Alfadhel, Bart P.C. van de Warrenburg, R Portier, Carsten Bergmann, Saghar Ghasemi Firouzabadi, Sheng Chih Jin, Kaya Bilgüvar, Sherifa A. Hamed, Mohammed Abdelhameed, Nourelhoda A. Haridy, Shazia Maqbool, Fatima Rahman, Najwa Anwar, Jenny Carmichael, Alistair T. Pagnamenta, Nicholas Wood, Frédéric Tran Mau‐Them, Tobias B. Haack, Maja Di Rocco, Isabella Ceccherini, Michele Iacomino, Federico Zara, Vincenzo Salpietro, Marcello Scala, Marta Rusmini, Yiran Xu, Yinghong Wang, Yasuhiro Suzuki, Kishin Koh, Haitian Nan, Hiroyuki Ishiura, Shoji Tsuji, Laëtitia Lambert, Emmanuelle Schmitt, Elodie Lacaze, Hanna Küpper, David Dredge, Cara Skraban, Amy Goldstein, Mary Willis, Katheryn Grand, John M. Graham, Richard A. Lewis, Francisca Millan, Özgür Duman, Nihal Olgaç Dündar, Gökhan Uyanık, Lüdger Schöls, Peter Nürnberg, Gudrun Nürnberg, Andrea Català-Bordes, Pavel Seeman, Martin Kuchar, Hossein Darvish, Adriana Rebelo, Filipa Bouçanova, Jean‐Jacques Médard, Roman Chrast, Michaela Auer‐Grumbach, Fowzan S. Alkuraya, Hanan E. Shamseldin, Saeed Al Tala, Jamileh Rezazadeh Varaghchi, Maryam Najafi, Selina Deschner, Dieter Gläser, Wolfgang Hüttel, Michael C. Kruer, Erik-Jan Kamsteeg, Yoshihisa Takiyama, Stephan Züchner, Jonathan Baets, Matthis Synofzik, Rebecca Schüle, Rita Horváth
Almmustuhtton 2021Artigo
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Congenital muscular dystrophy