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Open Access Green möglich sobald Postprint bei der ZB eingereicht worden ist.
ACTB gene mutation in combined Dystonia-Deafness syndrome with parkinsonism: Expanding the phenotype and highlighting the long-term GPi DBS outcome.
Parkinsonism Relat. Disord. 104, 3-6 (2022)
We report a Dystonia-Deafness syndrome patient treated by pallidal Deep Brain Stimulation with significant long-term benefits. Our study expands and confirms the complex phenotypic spectrum of ACTB gene-related disorders and supports the effectiveness of pallidal stimulation on motor outcomes and quality of life in dystonia due to ACTB p.Arg183Trp heterozygosity.
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Publikationstyp
Artikel: Journalartikel
Dokumenttyp
Wissenschaftlicher Artikel
ISSN (print) / ISBN
1353-8020
e-ISSN
1873-5126
Zeitschrift
Parkinsonism & Related Disorders
Quellenangaben
Band: 104,
Seiten: 3-6
Verlag
Elsevier
Begutachtungsstatus
Peer reviewed
Institut(e)
Institute of Neurogenomics (ING)
Förderungen
Italian Ministry of Health (RRC)
Mariani Foundation
Horizon 2020 through the EJP RD project GENOMIT
Federal Ministry of Education & Research (BMBF)
German Research Foundation (DFG)
Mariani Foundation
Horizon 2020 through the EJP RD project GENOMIT
Federal Ministry of Education & Research (BMBF)
German Research Foundation (DFG)