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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
Nichtpatentliteratur
Publikationen
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)