A hexanucleotide repeat modifies expressivity of X‐linked dystonia parkinsonism-Reference-Cited by-同舟云学术

A hexanucleotide repeat modifies expressivity of X‐linked dystonia parkinsonism

Published:2019-05-03 Issue:6 Volume:85 Page:812-822
ISSN:0364-5134
Container-title:Annals of Neurology
language:en
Short-container-title:Ann Neurol

Author:

Westenberger Ana¹^ORCID,Reyes Charles Jourdan¹,Saranza Gerard²,Dobricic Valerija¹³,Hanssen Henrike¹⁴,Domingo Aloysius¹⁵,Laabs Björn‐Hergen⁶,Schaake Susen¹,Pozojevic Jelena⁷,Rakovic Aleksandar¹,Grütz Karen¹,Begemann Kimberly¹,Walter Uwe⁸,Dressler Dirk⁹,Bauer Peter¹⁰,Rolfs Arndt¹⁰,Münchau Alexander¹,Kaiser Frank J.⁷,Ozelius Laurie J.¹¹,Jamora Roland Dominic²,Rosales Raymond L.¹²,Diesta Cid Czarina E.¹³,Lohmann Katja¹,König Inke R.⁶^ORCID,Brüggemann Norbert¹⁴^ORCID,Klein Christine¹

Affiliation:

1. Institute of NeurogeneticsUniversity of Lübeck Lübeck Germany

2. Department of NeurosciencesCollege of Medicine‐Philippine General Hospital, University of the Philippines Manila Philippines

3. Lübeck Interdisciplinary Platform for Genome AnalyticsInstitutes of Neurogenetics and Cardiogenetics, University of Lübeck Lübeck Germany

4. Department of NeurologyUniversity of Lübeck Lübeck Germany

5. Center for Genomic MedicineMassachusetts General Hospital Boston MA

6. Institute of Medical Biometry and StatisticsUniversity of Lübeck Lübeck Germany

7. Section for Functional GeneticsInstitute for Human Genetics, University of Lübeck Lübeck Germany

8. Department of NeurologyUniversity of Rostock Rostock Germany

9. Movement Disorders Section, Department of NeurologyHannover Medical School Hannover Germany

10. Centogene Rostock Germany

11. Department of NeurologyMassachusetts General Hospital and Harvard Medical School Boston MA

12. University of Santo Tomas Hospital Manila Philippines

13. Department of Neurosciences, Movement Disorders ClinicMakati Medical Center Makati City Philippines

Funder

Katholischer Akademischer Ausländer-Dienst

Deutsche Forschungsgemeinschaft

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ana.25488

Reference29 articles.

1. The Unique Phenomenology of Sex-Linked Dystonia Parkinsonism (XDP, DYT3, “Lubag”)

2. International Parkinson and Movement Disorder Society. MDSGene. Available at:http://www.mdsgene.org/. Accessed January 20th 2019.

3. Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly

4. Genome editing in induced pluripotent stem cells rescues TAF1 levels in X-linked dystonia-parkinsonism

5. Disease onset in X-linked dystonia-parkinsonism correlates with expansion of a hexameric repeat within an SVA retrotransposon in TAF1

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