X-linked Dystonia-Parkinsonism manifesting in a female patient due to atypical turner syndrome-Reference-Cited by-同舟云学术

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X-linked Dystonia-Parkinsonism manifesting in a female patient due to atypical turner syndrome

Published:2013-02-06 Issue:5 Volume:28 Page:675-678
ISSN:0885-3185
Container-title:Movement Disorders
language:en
Short-container-title:Mov Disord.

Author:

Westenberger Ana¹,Rosales Raymond L.²,Heinitz Sascha¹,Freimann Karen¹,Lee Lilian V.³,Jamora Roland D.,Ng Arlene R.⁴,Domingo Aloysius⁵,Lohmann Katja¹,Walter Uwe⁶,Gölnitz Uta⁷,Rolfs Arndt,Nagel Inga⁸,Gillessen-Kaesbach Gabriele⁹,Siebert Reiner,Dressler Dirk,Klein Christine¹

Affiliation:

1. Institute of Neurogenetics; University of Lübeck; Lübeck; Germany

2. University of Santo Tomas; Metro Manila; Philippines

3. Philippine Children's Medical Center; Metro Manila; Philippines

4. St Luke's Medical Center; Metro Manila; Philippines

5. University of the Philippines-Philippine General Hospital; Metro Manila; Philippines

6. Departments of Neurology; University of Rostock; Rostock; Germany

7. Centogene GmbH, Institute of Molecular Diagnostics; Rostock; Germany

8. Institute of Human Genetics, Christian-Albrechts-University; Kiel; Germany

9. Institut für Humangenetik, Universität zu Lübeck; Lübeck; Germany

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Reference8 articles.

1. The unique phenomenology of sex-linked dystonia parkinsonism (XDP, DYT3, “Lubag”);Lee;Int J Neurosci.,2011

2. Reduced neuron-specific expression of the TAF1 gene is associated with X-linked dystonia-parkinsonism;Makino;Am J Hum Genet.,2007

3. Specific sequence changes in multiple transcript system DYT3 are associated with X-linked dystonia parkinsonism;Nolte;Proc Natl Acad Sci USA.,2003

4. Phenotypic expression of X-linked dystonia-parkinsonism (lubag) in two women;Waters;Neurology.,1993

5. Phenotypic and molecular analyses of X-linked dystonia-parkinsonism (“lubag”) in women;Evidente;Arch Neurol.,2004

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1. A scoping review on the diagnosis and treatment of X-linked dystonia-parkinsonism;Parkinsonism & Related Disorders;2024-02

2. Variation in TAF1 Expression in Female Carrier-Induced Pluripotent Stem Cells and Human Brain Ontogeny Has Implications for Adult Neostriatum Vulnerability in X-Linked Dystonia Parkinsonism;eneuro;2022-07

3. Factors influencing reduced penetrance and variable expressivity in X-linked dystonia-parkinsonism;Medizinische Genetik;2022-06-01

4. Association Study of TAF1 Variants in Parkinson’s Disease;Frontiers in Neuroscience;2022-04-08

5. Tissue-specific and repeat length-dependent somatic instability of the X-linked dystonia parkinsonism-associated CCCTCT repeat;Acta Neuropathologica Communications;2022-04-08

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