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Zeitschriftenartikel
Schaub, Annalisa 
ORCID: https://orcid.org/0000-0002-0408-5297; Erdmann, Hannes ORCID: https://orcid.org/0000-0002-2620-1850; Scholz, Veronika; Timmer, Manuela; Cordts, Isabell ORCID: https://orcid.org/0000-0002-2078-1997; Günther, Rene ORCID: https://orcid.org/0000-0003-0329-5644; Reilich, Peter ORCID: https://orcid.org/0000-0002-2464-0681; Abicht, Angela und Schöberl, Florian ORCID: https://orcid.org/0000-0002-8183-8133
(25. Juni 2024):
Analysis and occurrence of biallelic pathogenic repeat expansions in RFC1 in a German cohort of patients with a main clinical phenotype of motor neuron disease.
In: Journal of Neurology, Bd. 271: S. 5804-5812
[PDF, 1MB]
ORCID: https://orcid.org/0000-0002-0408-5297; Erdmann, Hannes ORCID: https://orcid.org/0000-0002-2620-1850; Scholz, Veronika; Timmer, Manuela; Cordts, Isabell ORCID: https://orcid.org/0000-0002-2078-1997; Günther, Rene ORCID: https://orcid.org/0000-0003-0329-5644; Reilich, Peter ORCID: https://orcid.org/0000-0002-2464-0681; Abicht, Angela und Schöberl, Florian ORCID: https://orcid.org/0000-0002-8183-8133
(25. Juni 2024):
Analysis and occurrence of biallelic pathogenic repeat expansions in RFC1 in a German cohort of patients with a main clinical phenotype of motor neuron disease.
In: Journal of Neurology, Bd. 271: S. 5804-5812
[PDF, 1MB]
Naumann, Marcel; Pal, Arun; Goswami, Anand; Lojewski, Xenia; Japtok, Julia; Vehlow, Anne; Naujock, Maximilian; Günther, Rene; Jin, Mengmeng; Stanslowsky, Nancy; Reinhardt, Peter; Sterneckert, Jared; Frickenhaus, Marie; Pan-Montojo, Francisco; Storkebaum, Erik; Poser, Ina; Freischmidt, Axel; Weishaupt, Jochen H.; Holzmann, Karlheinz; Troost, Dirk; Ludolph, Albert C.; Böckers, Tobias M.; Liebau, Stefan; Petri, Susanne; Cordes, Nils; Hyman, Anthony A.; Wegner, Florian; Grill, Stephan W.; Weis, Joachim; Storch, Alexander und Hermann, Andreas
(2018):
Impaired DNA damage response signaling by FUS-NLS mutations leads to neurodegeneration and FUS aggregate formation.
In: Nature Communications, Bd. 9, 335
[PDF, 6MB]