Relationship of Genotype, Phenotype, and Treatment in Dopa‐Responsive Dystonia: MDSGene Review-Reference-Cited by-同舟云学术

Relationship of Genotype, Phenotype, and Treatment in Dopa‐Responsive Dystonia: MDSGene Review

Published:2021-12-15 Issue: Volume: Page:
ISSN:0885-3185
Container-title:Movement Disorders
language:en
Short-container-title:Movement Disorders

Author:

Weissbach Anne¹²^ORCID,Pauly Martje G.¹²³^ORCID,Herzog Rebecca²³^ORCID,Hahn Lisa¹²,Halmans Sara²,Hamami Feline²,Bolte Christina²,Camargos Sarah⁴,Jeon Beomseok⁵,Kurian Manju A.⁶^ORCID,Opladen Thomas⁷,Brüggemann Norbert¹³^ORCID,Huppertz Hans‐Jürgen⁸,König Inke R.⁹,Klein Christine¹,Lohmann Katja¹^ORCID

Affiliation:

1. Institute of Neurogenetics University of Lübeck Lübeck Germany

2. Institute of Systems Motor Science University of Lübeck Lübeck Germany

3. Department of Neurology University Hospital Schleswig Holstein Lübeck Germany

4. Department of Internal Medicine Universidade Federal de Minas Gerais Belo Horizonte Brazil

5. Department of Neurology Seoul National University College of Medicine Seoul South Korea

6. Developmental Neurosciences UCL Great Ormond Street Institute of Child Health London United Kingdom

7. Division of Child Neurology and Metabolic Disorders University Children's Hospital Heidelberg Germany

8. Swiss Epilepsy Center Klinik Lengg AG Zurich Switzerland

9. Institute of Medical Biometry and Statistics University of Lübeck Lübeck Germany

Funder

Deutsche Forschungsgemeinschaft

Else Kröner-Fresenius-Stiftung

International Parkinson and Movement Disorder Society

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mds.28874

Reference23 articles.

1. Dopa-responsive dystonia

2. Treatable inherited rare movement disorders

3. Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene

4. Autosomal dominant guanosine triphosphate cyclohydrolase I deficiency (Segawa disease)

5. A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome

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