Found: 19
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Mosaic divergent repeat interruptions in XDP influence repeat stability and disease onset.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 3, p. 1075, doi. 10.1093/brain/awac160
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- Publication type:
- Article
Primary brain calcification due to a homozygous MYORG mutation causing isolated paroxysmal kinesigenic dyskinesia.
- Published in:
- 2020
- By:
- Publication type:
- letter
A hexanucleotide repeat modifies expressivity of X-linked dystonia parkinsonism.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Genetic Testing for Parkinson's Disease and Movement Disorders in Less Privileged Areas: Barriers and Opportunities.
- Published in:
- Movement Disorders Clinical Practice, 2024, v. 11, n. 1, p. 14, doi. 10.1002/mdc3.13903
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- Publication type:
- Article
Elucidating Hexanucleotide Repeat Number and Methylation within the X-Linked Dystonia-Parkinsonism (XDP)-Related SVA Retrotransposon in TAF1 with Nanopore Sequencing.
- Published in:
- Genes, 2022, v. 13, n. 1, p. 126, doi. 10.3390/genes13010126
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- Publication type:
- Article
Combined dystonias: clinical and genetic updates.
- Published in:
- Journal of Neural Transmission, 2021, v. 128, n. 4, p. 417, doi. 10.1007/s00702-020-02269-w
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- Publication type:
- Article
Levodopa challenge test: indications, protocol, and guide.
- Published in:
- Journal of Neurology, 2021, v. 268, n. 9, p. 3135, doi. 10.1007/s00415-020-09810-7
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- Publication type:
- Article
Movement disorders in hereditary spastic paraplegia (HSP): a systematic review and individual participant data meta-analysis.
- Published in:
- Neurological Sciences, 2023, v. 44, n. 3, p. 947, doi. 10.1007/s10072-022-06516-8
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- Publication type:
- Article
Identifying genetic modifiers of age-associated penetrance in X-linked dystonia-parkinsonism.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-23491-4
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- Publication type:
- Article
A mathematical approach in the management of hydrocephalus from tuberculous meningitis.
- Published in:
- National Journal of Physiology, Pharmacy & Pharmacology, 2017, v. 7, n. 11, p. 1195, doi. 10.5455/njppp.2017.7.0517402072017
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- Publication type:
- Article
Stability of Mosaic Divergent Repeat Interruptions in X‐Linked Dystonia‐Parkinsonism.
- Published in:
- Movement Disorders, 2024, v. 39, n. 7, p. 1145, doi. 10.1002/mds.29809
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- Publication type:
- Article
Low Frequency of p.S510G in PIAS1 Challenges its Relevance for Modifying Repeat Expansion Disorders.
- Published in:
- Movement Disorders, 2022, v. 37, n. 10, p. 2168, doi. 10.1002/mds.29191
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- Publication type:
- Article
Preferences for Communication About End-of-Life Care in Atypical Parkinsonism.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Multimodal Longitudinal Neurophysiological Investigations in Dopa‐Responsive Dystonia.
- Published in:
- Movement Disorders, 2021, v. 36, n. 8, p. 1986, doi. 10.1002/mds.28679
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- Publication type:
- Article
Inhaled Levodopa as a Potential Treatment for Diphasic Dyskinesia.
- Published in:
- Movement Disorders, 2021, v. 36, n. 1, p. 265, doi. 10.1002/mds.28361
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- Publication type:
- Article
Expanding Data Collection for the MDSGene Database: X‐linked Dystonia‐Parkinsonism as Use Case Example.
- Published in:
- Movement Disorders, 2020, v. 35, n. 11, p. 1933, doi. 10.1002/mds.28289
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- Publication type:
- Article
Excessive Cerebellar Oscillations in Essential Tremor: Insights Into Disease Mechanism and Treatment.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Time estimation and arousal responses in dopa-responsive dystonia.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-17545-w
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- Publication type:
- Article
Non-Dopaminergic Treatments for Motor Control in Parkinson's Disease: An Update.
- Published in:
- 2020
- By:
- Publication type:
- journal article