Found: 31
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Genome editing in induced pluripotent stem cells rescues TAF1 levels in X-linked dystonia-parkinsonism.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Genotype-Phenotype Relations for the Parkinson's Disease Genes Parkin, PINK1, DJ1: MDSGene Systematic Review.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Striosomal dysfunction affects behavioral adaptation but not impulsivity-Evidence from X-linked dystonia-parkinsonism.
- Published in:
- 2017
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- Publication type:
- journal article
Primary familial brain calcification in the 'IBGC2' kindred: All linkage roads lead to SLC20A2.
- Published in:
- 2016
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- Publication type:
- journal article
Seemingly dominant inheritance of a recessive ANO10 mutation in romani families with cerebellar ataxia.
- Published in:
- 2016
- By:
- Publication type:
- letter
Novel Dystonia Genes: Clues on Disease Mechanisms and the Complexities of High-Throughput Sequencing.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Neurophysiological fingerprints of X-linked dystonia-parkinsonism: A model basal ganglia disease.
- Published in:
- Movement Disorders, 2015, v. 30, n. 6, p. 873, doi. 10.1002/mds.26224
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- Publication type:
- Article
X-linked Dystonia-Parkinsonism manifesting in a female patient due to atypical turner syndrome.
- Published in:
- Movement Disorders, 2013, v. 28, n. 5, p. 675, doi. 10.1002/mds.25369
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- Publication type:
- Article
New insights into the genetics of X-linked dystonia-parkinsonism (XDP, DYT3).
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 10, p. 1334, doi. 10.1038/ejhg.2014.292
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- Publication type:
- Article
Basal ganglia and cerebellar pathology in X-linked dystonia-parkinsonism.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Basal Ganglia Atrophy as a Marker for Prodromal X‐Linked Dystonia‐Parkinsonism.
- Published in:
- Annals of Neurology, 2023, v. 93, n. 5, p. 999, doi. 10.1002/ana.26606
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- Publication type:
- Article
Imaging gradual neurodegeneration in a basal ganglia model disease.
- Published in:
- 2019
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- Publication type:
- journal article
A hexanucleotide repeat modifies expressivity of X-linked dystonia parkinsonism.
- Published in:
- 2019
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- Publication type:
- journal article
First Report of a Filipino with Mohr-Tranebjaerg Syndrome.
- Published in:
- Movement Disorders Clinical Practice, 2015, v. 2, n. 4, p. 417, doi. 10.1002/mdc3.12210
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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
Isolated dystonia: clinical and genetic updates.
- Published in:
- Journal of Neural Transmission, 2021, v. 128, n. 4, p. 405, doi. 10.1007/s00702-020-02268-x
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- Publication type:
- Article
Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice.
- Published in:
- Nature Genetics, 2013, v. 45, n. 9, p. 1077, doi. 10.1038/ng.2723
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- Publication type:
- Article
X-linked agammaglobulinemia with hearing impairment, dystonia-parkinsonism, and progressive neurodegeneration.
- Published in:
- 2014
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- Publication type:
- Letter
The Basal Ganglia Striosomes Affect the Modulation of Conflicts by Subliminal Information--Evidence from X-Linked Dystonia Parkinsonism.
- Published in:
- Cerebral Cortex, 2018, v. 28, n. 7, p. 2243, doi. 10.1093/cercor/bhx125
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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
Dysfunctions in striatal microstructure can enhance perceptual decision making through deficits in predictive coding.
- Published in:
- Brain Structure & Function, 2017, v. 222, n. 8, p. 3807, doi. 10.1007/s00429-017-1435-x
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- Publication type:
- Article
Evidence of TAF1 dysfunction in peripheral models of X-linked dystonia-parkinsonism.
- Published in:
- Cellular & Molecular Life Sciences, 2016, v. 73, n. 16, p. 3205, doi. 10.1007/s00018-016-2159-4
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- Publication type:
- Article
Prodromal X‐Linked Dystonia‐Parkinsonism is Characterized by a Subclinical Motor Phenotype.
- Published in:
- Movement Disorders, 2022, v. 37, n. 7, p. 1474, doi. 10.1002/mds.29033
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- Publication type:
- Article
Genotype–Phenotype Relations in Primary Familial Brain Calcification: Systematic MDSGene Review.
- Published in:
- Movement Disorders, 2021, v. 36, n. 11, p. 2468, doi. 10.1002/mds.28753
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- Publication type:
- Article
Genotype–Phenotype Relations for Isolated Dystonia Genes: MDSGene Systematic Review.
- Published in:
- Movement Disorders, 2021, v. 36, n. 5, p. 1086, doi. 10.1002/mds.28485
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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
Genetic risk variants in New Yorkers of Puerto Rican and Dominican Republic heritage with Parkinson's disease.
- Published in:
- NPJ Parkinson's Disease, 2023, v. 9, n. 1, p. 1, doi. 10.1038/s41531-023-00599-6
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- Publication type:
- Article
Association of Pallidal Neurostimulation and Outcome Predictors With X-linked Dystonia Parkinsonism.
- Published in:
- JAMA Neurology, 2019, v. 72, n. 6, p. 211, doi. 10.1001/jamaneurol.2018.3777
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- Publication type:
- Article
Primary Familial Brain Calcification With Known Gene Mutations.
- Published in:
- JAMA Neurology, 2015, v. 72, n. 4, p. 460, doi. 10.1001/jamaneurol.2014.3889
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- Publication type:
- Article
Woman With X-Linked Recessive Dystonia-Parkinsonism Clue to the Epidemiology of Parkinsonism in FilipinoWomen?
- Published in:
- JAMA Neurology, 2014, v. 71, n. 9, p. 1177, doi. 10.1001/jamaneurol.2014.56
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- Publication type:
- Article
Mutations in GNAL.
- Published in:
- JAMA Neurology, 2014, v. 71, n. 4, p. 490, doi. 10.1001/jamaneurol.2013.4677
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- Publication type:
- Article