ε-Sarcoglycan: Unraveling the Myoclonus-Dystonia Gene-Reference-Cited by-同舟云学术

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ε-Sarcoglycan: Unraveling the Myoclonus-Dystonia Gene

Published:2021-04-22 Issue:8 Volume:58 Page:3938-3952
ISSN:0893-7648
Container-title:Molecular Neurobiology
language:en
Short-container-title:Mol Neurobiol

Author:

Cazurro-Gutiérrez Ana,Marcé-Grau Anna,Correa-Vela Marta,Salazar Ainara,Vanegas María I.,Macaya Alfons,Bayés Àlex,Pérez-Dueñas Belén

Funder

ALUDME

Instituto de Salud Carlos III

Marie Curie

Ministerio de Ciencia, Innovación y Universidades

Ministerio de Economía, Industria y Competitividad, Gobierno de España

Agència de Gestió d’Ajuts Universitaris i de Recerca

Publisher

Springer Science and Business Media LLC

Subject

Neuroscience (miscellaneous),Cellular and Molecular Neuroscience,Neurology

Link

https://link.springer.com/content/pdf/10.1007/s12035-021-02391-0.pdf

Reference79 articles.

1. Asmus F, Gasser T (2010) Dystonia-plus syndromes. Eur J Neurol 17(Suppl 1):37–45. https://doi.org/10.1111/j.1468-1331.2010.03049.x

2. Roze E, Lang AE, Vidailhet M (2018) Myoclonus-dystonia: classification, phenomenology, pathogenesis, and treatment. Curr Opin Neurol 31:484–490. https://doi.org/10.1097/WCO.0000000000000577

3. Nardocci N, Zorzi G, Barzaghi C, Zibordi F, Ciano C, Ghezzi D, Garavaglia B (2008) Myoclonus-dystonia syndrome: clinical presentation, disease course, and genetic features in 11 families. Mov Disord 23:28–34. https://doi.org/10.1002/mds.21715

4. Timmers ER, Smit M, Kuiper A, Bartels AL, van der Veen S, van der Stouwe AMM, Santens P, Bergmans B et al (2019) Myoclonus-dystonia: distinctive motor and non-motor phenotype from other dystonia syndromes. Parkinsonism Relat Disord 69:85–90. https://doi.org/10.1016/j.parkreldis.2019.10.015

5. Wang X, Yu X (2021) Deep brain stimulation for myoclonus dystonia syndrome: a meta-analysis with individual patient data. Neurosurg Rev 44:451–462. https://doi.org/10.1007/s10143-019-01233-x

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1. Myoclonus: an update;Current Opinion in Neurology;2024-05-24

2. Genetics and Pathogenesis of Dystonia;Annual Review of Pathology: Mechanisms of Disease;2024-01-24

3. Mechanisms underlying phenotypic variation in neurogenetic disorders;Nature Reviews Neurology;2023-05-18

4. Extension of the DNAJB2a isoform in a dominant neuromyopathy family;Human Molecular Genetics;2023-04-18

5. Dystonia Responding to Levodopa in A Child with Myoclonus‐Dystonia;Movement Disorders Clinical Practice;2023-03-07

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