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Gruppiert nach: Dokumententyp | Veröffentlichungsdatum
Anzahl der Publikationen: 6

Zeitschriftenartikel

Schiava, Marianela ORCID logoORCID: https://orcid.org/0000-0002-2709-265X; Ikenaga, Chiseko; Villar-Quiles, Rocío Nur; Caballero-Ávila, Marta ORCID logoORCID: https://orcid.org/0000-0001-9850-8504; Topf, Ana; Nishino, Ichizo ORCID logoORCID: https://orcid.org/0000-0001-9452-112X; Kimonis, Virginia; Udd, Bjarne; Schoser, Benedikt ORCID logoORCID: https://orcid.org/0000-0002-2757-8131; Zanoteli, Edmar ORCID logoORCID: https://orcid.org/0000-0002-4991-6760; Sgobbi Souza, Paulo Victor ORCID logoORCID: https://orcid.org/0000-0002-7416-7108; Tasca, Giorgio ORCID logoORCID: https://orcid.org/0000-0003-0849-9144; Lloyd, Thomas; Lopez-de Munain, Adolfo; Paradas, Carmen; Pegoraro, Elena ORCID logoORCID: https://orcid.org/0000-0002-7740-4156; Nadaj-Pakleza, Aleksandra; De Bleecker, Jan; Badrising, Umesh; Alonso-Jiménez, Alicia; Kostera-Pruszczyk, Anna; Miralles, Francesc; Shin, Jin-Hong ORCID logoORCID: https://orcid.org/0000-0002-5174-286X; Bevilacqua, Jorge Alfredo; Olivé, Montse; Vorgerd, Matthias; Kley, Rudi; Brady, Stefen; Williams, Timothy; Domínguez-González, Cristina ORCID logoORCID: https://orcid.org/0000-0001-5151-988X; Papadimas, George K.; Warman-Chardon, Jodi; Claeys, Kristl G. ORCID logoORCID: https://orcid.org/0000-0001-9937-443X; de Visser, Marianne; Muelas, Nuria; LaForet, Pascal; Malfatti, Edoardo; Alfano, Lindsay N. ORCID logoORCID: https://orcid.org/0000-0002-2263-7569; Nair, Sruthi S ORCID logoORCID: https://orcid.org/0000-0001-5463-5229; Manousakis, Georgios; Kushlaf, Hani A.; Harms, Matthew B.; Nance, Christopher; Ramos-Fransi, Alba; Rodolico, Carmelo; Hewamadduma, Channa; Cetin, Hakan ORCID logoORCID: https://orcid.org/0000-0001-9009-7261; García-García, Jorge; Pál, Endre; Farrugia, Maria Elena; Lamont, Phillipa J.; Quinn, Colin; Nedkova-Hristova, Velina; Peric, Stojan; Luo, Sushan ORCID logoORCID: https://orcid.org/0000-0002-9033-7568; Oldfors, Anders; Taylor, Kate; Ralston, Stuart; Stojkovic, Tanya; Weihl, Conrad ORCID logoORCID: https://orcid.org/0000-0002-3816-6124 und Diaz-Manera, Jordi ORCID logoORCID: https://orcid.org/0000-0003-2941-7988 (2022): Genotype–phenotype correlations in valosin-containing protein disease: a retrospective muticentre study. In: Journal of Neurology, Neurosurgery & Psychiatry, Bd. 93, Nr. 10: S. 1099-1111

Alonso-Perez, Jorge; Gonzalez-Quereda, Lidia; Bello, Luca; Guglieri, Michela; Straub, Volker; Gallano, Pia; Semplicini, Claudio; Pegoraro, Elena; Zangaro, Vittoria; Nascimento, Andres; Ortez, Carlos; Comi, Giacomo Pietro; ten Dam, Leroy; De Visser, Marianne; Kooi, A. J. van der; Garrido, Cristina; Santos, Manuela; Schara, Ulrike; Gangfuss, Andrea; Lokken, Nicoline; Storgaard, Glesper Helbo; Vissing, John; Schoser, Benedikt; Dekomien, Gabriele; Udd, Bjarne; Palmio, Johanna; D'Amico, Adele; Politano, Luisa; Nigro, Vincenzo; Bruno, Claudio; Panicucci, Chiara; Sarkozy, Anna; Abdel-Mannan, Omar; Alonsolimenez, Alicia; Claeys, Kristl G.; Gomez-Andres, David; Munell, Francina; Costa-Comellas, Laura; Haberlova, Jana; Rohlenova, Marie; Elke, De Vos; De Bleecker, Jan L.; Dominguez-Gonzalez, Cristina; Tasca, Giorgio; Weiss, Claudia; Deconinck, Nicolas; Fernandez-Torron, Roberto; de Munain, Adolfo Lopez; Camacho-Salas, Ana; Melegh, Bela; Hadzsiev, Kinga; Leonardis, Lea; Koritnik, Blaz; Garibaldi, Matteo; De Leon-Hernandez, Juan Carlos; Malfatti, Edoardo; Fraga-Bau, Arturo; Richard, Isabelle; Illa, Isabel und Diaz-Manera, Jordi (2020): New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy. In: Brain, Bd. 143: S. 2696-2708

Müller, Kathrin; Brenner, David; Weydt, Patrick; Meyer, Thomas; Grehl, Torsten; Petri, Susanne; Grosskreutz, Julian; Schuster, Joachim; Volk, Alexander E.; Borck, Guntram; Kubisch, Christian; Klopstock, Thomas; Zeller, Daniel; Jablonka, Sibylle; Sendtner, Michael; Klebe, Stephan; Knehr, Antje; Günther, Kornelia; Weis, Joachim; Claeys, Kristl G.; Schrank, Berthold; Sperfeld, Anne-Dorte; Hübers, Annemarie; Otto, Markus; Dorst, Johannes; Meitinger, Thomas; Strom, Tim M.; Andersen, Peter M.; Ludolph, Albert C. und Weishaupt, Jochen H. (2018): Comprehensive analysis of the mutation spectrum in 301 German ALS families. In: Journal of Neurology Neurosurgery and Psychiatry, Bd. 89, Nr. 8: S. 817-827 [PDF, 637kB]

Weis, Joachim; Claeys, Kristl G.; Roos, Andreas; Azzedine, Hamid; Katona, Istvan; Schröder, J. Michael und Senderek, Jan (2017): Towards a functional pathology of hereditary neuropathies. In: Acta Neuropathologica, Bd. 133, Nr. 4: S. 493-515

Dohrn, Maike F.; Glöckle, Nicola; Mulahasanovic, Lejla; Heller, Corina; Mohr, Julia; Bauer, Christine; Riesch, Erik; Becker, Andrea; Battke, Florian; Hörtnagel, Konstanze; Hornemann, Thorsten; Suriyanarayanan, Saranya; Blankenburg, Markus; Schulz, Jörg B.; Claeys, Kristl G.; Gess, Burkhard; Katona, Istvan; Ferbert, Andreas; Vittore, Debora; Grimm, Alexander; Wolking, Stefan; Schöls, Ludger; Lerche, Holger; Korenke, G. Christoph; Fischer, Dirk; Schrank, Bertold; Kotzaeridou, Urania; Kurlemann, Gerhard; Dräger, Bianca; Schirmacher, Anja; Young, Peter; Schlotter-Weigel, Beate und Biskup, Saskia (2017): Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies. In: Journal of Neurochemistry, Bd. 143, Nr. 5: S. 507-522

Altmann, Judith; Büchner, Boriana; Nadaj-Pakleza, Aleksandra; Schäfer, Jochen; Jackson, Sandra; Lehmann, Diana; Deschauer, Marcus; Kopajtich, Robert; Lautenschläger, Ronald; Kuhn, Klaus A.; Karle, Kathrin; Schöls, Ludger; Schulz, Jörg B.; Weis, Joachim; Prokisch, Holger; Kornblum, Cornelia; Claeys, Kristl G. und Klopstock, Thomas (2016): Expanded phenotypic spectrum of the m.8344A > G "MERRF" mutation: data from the German mitoNET registry. In: Journal of Neurology, Bd. 263, Nr. 5: S. 961-972

Diese Liste wurde am Sat Mar 23 23:15:04 2024 CET erstellt.