Search Results - Zuchner, Stephan

SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation by Nashabat, Marwan (Author) , Nabavizadeh, Nasrinsadat (Author) , Saraçoğlu, Hilal Pırıl (Author) , Sarıbaş, Burak (Author) , Avcı, Şahin (Author) , Börklü, Esra (Author) , Beillard, Emmanuel (Author) , Yılmaz, Elanur (Author) , Uygur, Seyide Ecesu (Author) , Kayhan, Cavit Kerem (Author) , Bosco, Luca (Author) , Eren, Zeynep Bengi (Author) , Steindl, Katharina (Author) , Richter, Manuela Friederike (Author) , Bademci, Guney (Author) , Rauch, Anita (Author) , Fattahi, Zohreh (Author) , Valentino, Maria Lucia (Author) , Connolly, Anne M. (Author) , Bahr, Angela (Author) , Viola, Laura (Author) , Bergmann, Anke Katharina (Author) , Rocha, Maria Eugenia (Author) , Peart, LeShon (Author) , Castro-Rojas, Derly Liseth (Author) , Bültmann, Eva (Author) , Khan, Suliman (Author) , Giarrana, Miriam Liliana (Author) , Teleanu, Raluca Ioana (Author) , Gonzalez, Joanna Michelle (Author) , Pini, Antonella (Author) , Schädlich, Ines Sophie (Author) , Vill, Katharina (Author) , Brugger, Melanie (Author) , Züchner, Stephan (Author) , Pinto, Andreia (Author) , Donkervoort, Sandra (Author) , Bivona, Stephanie Ann (Author) , Riza, Anca (Author) , Streata, Ioana (Author) , Gläser, Dieter (Author) , Baquero-Montoya, Carolina (Author) , Garcia-Restrepo, Natalia (Author) , Kotzaeridou, Urania (Author) , Brunet, Theresa (Author) , Epure, Diana Anamaria (Author) , Bertoli-Avella, Aida M. (Author) , Kariminejad, Ariana (Author) , Tekin, Mustafa (Author) , von Hardenberg, Sandra (Author) , Bönnemann, Carsten G. (Author) , Stettner, Georg Martin (Author) , Zanni, Ginevra (Author) , Kayserili, Hülya (Author) , Oflazer, Zehra Piraye (Author) , Escande-Beillard, Nathalie (Author) ,

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The GENESIS database and tools: A decade of discovery in Mendelian genomics by Danzi, Matt (Author) , Powell, Eric (Author) , Rebelo, Adriana P. (Author) , Dohrn, Maike F. (Author) , Beijer, Danique (Author) , Fazal, Sarah (Author) , Xu, Isaac R. L. (Author) , Medina, Jessica (Author) , Chen, Sitong (Author) , Arcia de Jesus, Yeisha (Author) , Schatzman, Jacquelyn (Author) , Hershberger, Ray E. (Author) , Saporta, Mario (Author) , Baets, Jonathan (Author) , Falk, Marni (Author) , Herrmann, David N. (Author) , Scherer, Steven S. (Author) , Reilly, Mary M. (Author) , Cortese, Andrea (Author) , Marques, Wilson (Author) , Cornejo-Olivas, Mario R. (Author) , Sanmaneechai, Oranee (Author) , Kennerson, Marina L. (Author) , Jordanova, Albena (Author) , Silva, Thiago Y. T. (Author) , Pedroso, Jose Luiz (Author) , Schierbaum, Luca (Author) , Ebrahimi-Fakhari, Darius (Author) , Peric, Stojan (Author) , Lee, Yi-Chung (Author) , Synofzik, Matthis (Author) , Tekin, Mustafa (Author) , Ravenscroft, Gianina (Author) , Shy, Mike (Author) , Basak, Nazli (Author) , Schüle-Freyer, Rebecca (Author) , Zuchner, Stephan (Author) ,

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The ARCA Registry: a collaborative global platform for advancing trial readiness in autosomal recessive cerebellar ataxias by Traschütz, Andreas (Author) , Reich, Selina (Author) , Adarmes, Astrid D. (Author) , Anheim, Mathieu (Author) , Ashrafi, Mahmoud Reza (Author) , Baets, Jonathan (Author) , Basak, A. Nazli (Author) , Bertini, Enrico (Author) , Brais, Bernard (Author) , Gagnon, Cynthia (Author) , Gburek-Augustat, Janina (Author) , Hanagasi, Hasmet A. (Author) , Heinzmann, Anna Constanze (Author) , Horvath, Rita (Author) , Jonghe, Peter de (Author) , Kamm, Christoph (Author) , Klivenyi, Peter (Author) , Klopstock, Thomas (Author) , Minnerop, Martina (Author) , Münchau, Alexander (Author) , Renaud, Mathilde (Author) , Roxburgh, Richard H. (Author) , Santorelli, Filippo M. (Author) , Schirinzi, Tommaso (Author) , Sival, Deborah A. (Author) , Timmann-Braun, Dagmar (Author) , Vielhaber, Stefan (Author) , Wallner, Michael (Author) , Warrenburg, Bart Petrus Christoffel van de (Author) , Zanni, Ginevra (Author) , Züchner, Stephan (Author) , Klockgether, Thomas (Author) , Schüle-Freyer, Rebecca (Author) , Schöls, Ludger (Author) , Synofzik, Matthis (Author) ,

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Targeting transthyretin: mechanism-based treatment approaches and future perspectives in hereditary amyloidosis by Dohrn, Maike F. (Author) , Ihne, Sandra (Author) , Hegenbart, Ute (Author) , Medina, Jessica (Author) , Züchner, Stephan L. (Author) , Coelho, Teresa (Author) , Hahn, Katrin (Author) ,

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The genetic landscape of axonal neuropathies in the middle-aged and elderly: focus on MME by Senderek, Jan (Author) , Lassuthova, Petra (Author) , Kabzińska, Dagmara (Author) , Abreu, Lisa (Author) , Baets, Jonathan (Author) , Beetz, Christian (Author) , Braathen, Geir J. (Author) , Brenner, David (Author) , Dalton, Joline (Author) , Dankwa, Lois (Author) , Deconinck, Tine (Author) , Jonghe, Peter De (Author) , Dräger, Bianca (Author) , Eggermann, Katja (Author) , Ellis, Melina (Author) , Fischer, Carina (Author) , Stojkovic, Tanya (Author) , Herrmann, David N. (Author) , Horvath, Rita (Author) , Høyer, Helle (Author) , Iglseder, Stephan (Author) , Kennerson, Marina (Author) , Kinslechner, Katharina (Author) , Kohler, Jennefer N. (Author) , Kurth, Ingo (Author) , Laing, Nigel G. (Author) , Lamont, Phillipa J. (Author) , Löscher, Wolfgang N. (Author) , Ludolph, Albert C. (Author) , Weishaupt, Jochen H. (Author) , Wiessner, Manuela (Author) , Windhager, Reinhard (Author) , Young, Peter (Author) , Züchner, Stephan (Author) , Toegel, Stefan (Author) , Seeman, Pavel (Author) , Kochański, Andrzej (Author) , Auer-Grumbach, Michaela (Author) ,

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Rare variants in MME, encoding metalloprotease neprilysin, are linked to late-onset autosomal-dominant axonal polyneuropathies by Auer-Grumbach, Michaela (Author) , Toegel, Stefan (Author) , Schabhüttl, Maria (Author) , Weinmann, Daniela (Author) , Chiari, Catharina (Author) , Bennett, David L. H. (Author) , Beetz, Christian (Author) , Klein, Dennis (Author) , Andersen, Peter M. (Author) , Böhme, Ilka (Author) , Fink-Puches, Regina (Author) , Gonzalez, Michael (Author) , Harms, Matthew B. (Author) , Motley, William (Author) , Reilly, Mary M. (Author) , Renner, Wilfried (Author) , Rudnik-Schöneborn, Sabine (Author) , Schlotter-Weigel, Beate (Author) , Themistocleous, Andreas C. (Author) , Weishaupt, Jochen H. (Author) , Ludolph, Albert C. (Author) , Wieland, Thomas (Author) , Tao, Feifei (Author) , Abreu, Lisa (Author) , Windhager, Reinhard (Author) , Zitzelsberger, Manuela (Author) , Strom, Tim M. (Author) , Walther, Thomas (Author) , Scherer, Steven S. (Author) , Züchner, Stephan (Author) , Martini, Rudolf (Author) , Senderek, Jan (Author) ,

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Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients by Schüle-Freyer, Rebecca (Author) , Wiethoff, Sarah (Author) , Martus, Peter (Author) , Karle, Kathrin Nora (Author) , Otto, Susanne (Author) , Klebe, Stephan (Author) , Klimpe, Sven (Author) , Gallenmüller, Constanze (Author) , Kurzwelly, Delia (Author) , Henkel, Dorothea (Author) , Rimmele, Florian D. (Author) , Stolze, Henning Wolfgang (Author) , Kohl, Zacharias (Author) , Kassubek, Jan Rainer (Author) , Klockgether, Thomas (Author) , Vielhaber, Stefan (Author) , Kamm, Christoph (Author) , Klopstock, Thomas (Author) , Bauer, Peter (Author) , Züchner, Stephan (Author) , Liepelt-Scarfone, Inga (Author) , Schöls, Ludger (Author) ,

Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients by Schüle-Freyer, Rebecca (Author) , Wiethoff, Sarah (Author) , Martus, Peter (Author) , Karle, Kathrin Nora (Author) , Otto, Susanne (Author) , Klebe, Stephan (Author) , Klimpe, Sven (Author) , Gallenmüller, Constanze (Author) , Kurzwelly, Delia (Author) , Henkel, Dorothea (Author) , Rimmele, Florian D. (Author) , Stolze, Henning Wolfgang (Author) , Kohl, Zacharias (Author) , Kassubek, Jan Rainer (Author) , Klockgether, Thomas (Author) , Vielhaber, Stefan (Author) , Kamm, Christoph (Author) , Klopstock, Thomas (Author) , Bauer, Peter (Author) , Züchner, Stephan (Author) , Liepelt-Scarfone, Inga (Author) , Schöls, Ludger (Author) ,

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