Inhaltspezifische Aktionen

2021

  • Schänzer A, Achleitner MT, Trümbach D, Hubert L, Munnich A, Ahlemeyer B, AlAbdulrahim MM, Greif PA, Vosberg S, Hummer B, Feichtinger RG, Mayr JA, Wortmann SB, Aichner H, Rudnik-Schöneborn S, Ruiz A, Gabau E, Sánchez JP, Ellard S, Homfray T, Stals KL, Wurst W, Neubauer BA, Acker T, Bohlander SK, Asensio C, Besmond C, Alkuraya FS, AlSayed MD, Hahn A, Weber A. Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism. Ann Neurol. 2021 Jul;90(1):143-158.

  • Latorre-Pellicer A, Gil-Salvador M, Parenti I, Lucia-Campos C, Trujillano L, Marcos-Alcalde I, Arnedo M, Ascaso Á, Ayerza-Casas A, Antoñanzas-Pérez R, Gervasini C, Piccione M, Mariani M, Weber A, Kanber D, Kuechler A, Munteanu M, Khuller K, Bueno-Lozano G, Puisac B, Gómez-Puertas P, Selicorni A, Kaiser FJ, Ramos FJ, Pié J. Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood. Sci Rep. 2021 Jul 29;11(1):15459. doi: 10.1038/s41598-021-94958-z

  • Nolte, D., Kang, JS., Hofmann, A. Schwaab E., Krämer HH., Müller U. : Mutations in MT-ATP6 are a frequent cause of adult-onset spinocerebellar ataxia. J Neurol (2021). doi.org/10.1007/s00415-021-10607-5

  • Björn-Hergen Laabs, Christine Klein, Jelena Pozojevic, Aloysius Domingo, Norbert Brüggemann,Karen Grütz, Raymond L. Rosales, Roland Dominic Jamora, Gerard Saranza, Cid Czarina E. Diesta, Michael Wittig1, Susen Schaake, Marija Dulovic-Mahlow, Jana Quismundo, Pia Otto, Patrick Acuna,Criscely Go, Nutan Sharma, Trisha Multhaupt-Buell, Ulrich Müller, Henrike Hanssen, Fabian Kilpert, Andre Franke, Arndt Rolfs, Peter Bauer, Valerija Dobričić, Katja Lohmann, Laurie J. Ozelius, Frank J. Kaiser, Inke R. König & Ana Westenberger.Identifying genetic modifiers of age-associated penetrance in X-linked dystonia-parkinsonism. Nat Commun 12 , 3216 (2021). https://doi.org/10.1038/s41467-021-23491-4

  • Müller, U (2021) Spinocerebellar ataxias (SCAs) caused by common mutations. Neurogenetics 22: 235-250; https://doi.org/10.1007/s10048-021-00662-5