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Gruppiert nach: Dokumententyp | Veröffentlichungsdatum
Anzahl der Publikationen: 4

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

Deschauer, Marcus; Hengel, Holger; Rupprich, Katrin; Kreiss, Martina; Schlotter-Weigel, Beate; Grimmel, Mona; Admard, Jakob; Schneider, Ilka; Alhaddad, Bader; Gazou, Anastasia; Sturm, Marc; Vorgerd, Matthias; Balousha, Ghassan; Balousha, Osama; Falna, Mohammed; Kirschke, Jan S.; Kornblum, Cornelia; Jordan, Berit; Kraya, Torsten; Strom, Tim M.; Weis, Joachim; Schoels, Ludger; Schara, Ulrike; Zierz, Stephan; Riess, Olaf; Meitinger, Thomas und Haack, Tobias B. (2021): Bi-allelic truncating mutations in VWA1 cause neuromyopathy. In: Brain, Bd. 144: S. 574-583

Clemen, Christoph S.; Winter, Lilli; Strucksberg, Karl-Heinz; Berwanger, Carolin; Türk, Matthias; Kornblum, Cornelia; Florin, Alexandra; Aguilar-Pimentel, Juan Antonio; Amarie, Oana Veronica; Becker, Lore; Garrett, Lillian; Hans, Wolfgang; Moreth, Kristin; Neff, Frauke; Pingen, Laura; Rathkolb, Birgit; Rácz, Ildikó; Rozman, Jan; Treise, Irina; Fuchs, Helmut; Gailus-Durner, Valerie; Hrabe de Angelis, Martin; Vorgerd, Matthias; Eichinger, Ludwig und Schröder, Rolf (2018): The heterozygous R155C VCP mutation: Toxic in humans! Harmless in mice? In: Biochemical and Biophysical Research Communications, Bd. 503, Nr. 4: S. 2770-2777

Walter, Maggie C.; Reilich, Peter; Thiele, Simone; Schessl, Joachim; Schreiber, Herbert; Reiners, Karlheinz; Kress, Wolfram; Mueller-Reible, Clemens; Vorgerd, Matthias; Urban, Peter; Schrank, Bertold; Deschauer, Marcus; Schlotter-Weigel, Beate; Kohnen, Ralf und Lochmueller, Hanns (2013): Treatment of dysferlinopathy with deflazacort: a double-blind, placebo-controlled clinical trial. In: Orphanet Journal of Rare Diseases 8:26 [PDF, 3MB]

Diese Liste wurde am Sat Mar 23 21:20:01 2024 CET erstellt.