Dystonia and mitochondrial disease: the movement disorder connection revisited in 900 genetically diagnosed patients-Reference-Cited by-同舟云学术

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Dystonia and mitochondrial disease: the movement disorder connection revisited in 900 genetically diagnosed patients

Published:2024-05-22 Issue:7 Volume:271 Page:4685-4692
ISSN:0340-5354
Container-title:Journal of Neurology
language:en
Short-container-title:J Neurol

Author:

Indelicato Elisabetta,Schlieben Lea D.,Stenton Sarah L.,Boesch Sylvia,Skorvanek Matej,Necpal Jan,Jech Robert,Winkelmann Juliane,Prokisch Holger,Zech Michael

Funder

Technische Universität München

Publisher

Springer Science and Business Media LLC

Link

https://link.springer.com/content/pdf/10.1007/s00415-024-12447-5.pdf

Reference35 articles.

1. Albanese A, Bhatia K, Bressman SB et al (2013) Phenomenology and classification of dystonia: a consensus update. Mov Disord 28:863–873. https://doi.org/10.1002/MDS.25475

2. Dzinovic I, Boesch S, Škorvánek M et al (2022) Genetic overlap between dystonia and other neurologic disorders: a study of 1,100 exomes. Park Relat Disord 102:1–6. https://doi.org/10.1016/j.parkreldis.2022.07.003

3. Jinnah HA, Sun YV (2019) Dystonia genes and their biological pathways. Neurobiol Dis. https://doi.org/10.1016/j.nbd.2019.05.014

4. Zech M, Jech R, Boesch S et al (2020) Monogenic variants in dystonia: an exome-wide sequencing study. Lancet Neurol 19:908–918. https://doi.org/10.1016/S1474-4422(20)30312-4

5. Blauwendraat C, Nalls MA, Singleton AB (2020) The genetic architecture of Parkinson’s disease. Lancet Neurol 19:170–178. https://doi.org/10.1016/S1474-4422(19)30287-X

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