Mutations in MT-ATP6 are a frequent cause of adult-onset spinocerebellar ataxia.

Autor: Nolte D; Institut für Humangenetik , Justus-Liebig-Universität Giessen, Schlangenzahl 14, Giessen, 35392, Germany. dagmar.nolte@humangenetik.med.uni-giessen.de., Kang JS; Klinikum der Johann Wolfgang Goethe-Universität, Klinik für Neurologie, Frankfurt, Germany.; Neuropraxis, Frankfurt, Germany., Hofmann A; Institut für Humangenetik , Justus-Liebig-Universität Giessen, Schlangenzahl 14, Giessen, 35392, Germany.; Klinikum Worms, Klinik für Pädiatrie, Worms, Germany., Schwaab E; Praxis für Humangenetik , Wiesbaden, Germany., Krämer HH; Klinik für Neurologie , Justus-Liebig-Universität Giessen, Giessen, Germany., Müller U; Institut für Humangenetik , Justus-Liebig-Universität Giessen, Schlangenzahl 14, Giessen, 35392, Germany.

Publikováno v: Journal of neurology [J Neurol] 2021 Dec; Vol. 268 (12), pp. 4866-4873. Date of Electronic Publication: 2021 May 26.

A novel MT-ATP6 variant associated with complicated ataxia in two unrelated Italian patients: case report and functional studies.

Autor: Sala, Daniele¹ (AUTHOR), Marchet, Silvia¹ (AUTHOR), Nanetti, Lorenzo¹ (AUTHOR), Legati, Andrea¹ (AUTHOR), Mariotti, Caterina¹ (AUTHOR), Lamantea, Eleonora¹ (AUTHOR), Ghezzi, Daniele^1,2 (AUTHOR), Catania, Alessia¹ (AUTHOR), Lamperti, Costanza¹ (AUTHOR) costanza.lamperti@istituto-besta.it

Publikováno v: Orphanet Journal of Rare Diseases. 5/16/2024, Vol. 19 Issue 1, p1-9. 9p.

Variants in Human ATP Synthase Mitochondrial Genes: Biochemical Dysfunctions, Associated Diseases, and Therapies.

Autor: Del Dotto, Valentina¹ (AUTHOR) valentina.deldotto2@unibo.it, Musiani, Francesco² (AUTHOR) francesco.musiani@unibo.it, Baracca, Alessandra¹ (AUTHOR) alessandra.baracca@unibo.it, Solaini, Giancarlo¹ (AUTHOR)

Publikováno v: International Journal of Molecular Sciences. Feb2024, Vol. 25 Issue 4, p2239. 33p.

Surface science and liquid phase investigations of oxanorbornadiene/oxaquadricyclane ester derivatives as molecular solar thermal energy storage systems on Pt(111).

Autor: Hemauer, Felix, Krappmann, Daniel, Schwaab, Valentin, Hussain, Zarah, Freiberger, Eva Marie, Waleska-Wellnhofer, Natalie J., Franz, Evanie, Hampel, Frank, Brummel, Olaf, Libuda, Jörg, Hirsch, Andreas, Steinrück, Hans-Peter, Papp, Christian

Publikováno v: Journal of Chemical Physics; 8/21/2023, Vol. 159 Issue 7, p1-15, 15p

BRCA1 Germline Mutation in a Woman with Metaplastic Squamous Cell Breast Cancer.

Autor: Breuer, A., Kandel, M., Fisseler-Eckhoff, A., Sutter, C., Schwaab, E., Lück, H., Bois, A.

Publikováno v: Onkologie; 2007, Vol. 30 Issue 6, p316-318, 3p