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Revising rapid-onset dystonia-parkinsonism: Broadening indications for ATP1A3 testing.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Deep Brain Stimulation in Isolated Dystonia With a GNAL Mutation.
- Published in:
- 2019
- By:
- Publication type:
- letter
Phenotype- and genotype-specific structural alterations in spasmodic dysphonia.
- Published in:
- 2017
- By:
- Publication type:
- journal article
GNAL mutation in isolated laryngeal dystonia.
- Published in:
- 2016
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- Publication type:
- journal article
Heterogeneity in primary dystonia: Lessons from THAP1, GNAL, and TOR1A in Amish-Mennonites.
- Published in:
- Movement Disorders, 2014, v. 29, n. 6, p. 812, doi. 10.1002/mds.25818
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- Publication type:
- Article
Cognitive impairment in rapid-onset dystonia-parkinsonism.
- Published in:
- 2014
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- Publication type:
- journal article
Cognitive impairment in rapid-onset dystonia-parkinsonism.
- Published in:
- Movement Disorders, 2014, v. 29, n. 3, p. 344, doi. 10.1002/mds.25790
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- Publication type:
- Article
Mutation in 5' upstream region of GCHI gene causes familial dopa-responsive dystonia.
- Published in:
- 2011
- By:
- Publication type:
- letter
Mutation in 5′ upstream region of GCHI gene causes familial dopa-responsive dystonia.
- Published in:
- Movement Disorders, 2011, v. 26, n. 11, p. 2140, doi. 10.1002/mds.23786
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- Publication type:
- Article
LRRK2 G2019S mutations may be increased in Puerto Ricans.
- Published in:
- Movement Disorders, 2011, v. 26, n. 9, p. 1771, doi. 10.1002/mds.23632
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- Publication type:
- Article
Milestones in dystonia.
- Published in:
- Movement Disorders, 2011, v. 26, n. 6, p. 1106, doi. 10.1002/mds.23775
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- Publication type:
- Article
LRRK2 G2019S mutations are associated with an increased cancer risk in Parkinson disease.
- Published in:
- Movement Disorders, 2010, v. 25, n. 15, p. 2536, doi. 10.1002/mds.23314
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- Publication type:
- Article
Clinical expression of LRRK2 G2019S mutations in the elderly.
- Published in:
- Movement Disorders, 2010, v. 25, n. 15, p. 2571, doi. 10.1002/mds.23330
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- Publication type:
- Article
Genetic evidence for an association of the TOR1A locus with segmental/focal dystonia.
- Published in:
- Movement Disorders, 2010, v. 25, n. 13, p. 2183, doi. 10.1002/mds.23225
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- Publication type:
- Article
ATP1A3 mutation in the first asian case of rapid-onset dystonia-parkinsonism.
- Published in:
- Movement Disorders, 2007, v. 22, n. 12, p. 1808, doi. 10.1002/mds.21638
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- Publication type:
- Article
Heterogeneity of presentation and outcome in the Irish rapid-onset dystonia-parkinsonism kindred.
- Published in:
- 2007
- By:
- Publication type:
- journal article
Novel and de novo mutations of the SGCE gene in Brazilian patients with myoclonus-dystonia.
- Published in:
- Movement Disorders, 2007, v. 22, n. 8, p. 1208, doi. 10.1002/mds.21380
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- Publication type:
- Article
G2019S mutation in the leucine-rich repeat kinase 2 gene is not associated with multiple system atrophy.
- Published in:
- 2007
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- Publication type:
- journal article
Inherited myoclonus-dystonia and epilepsy: Further evidence of an association?
- Published in:
- Movement Disorders, 2004, v. 19, n. 12, p. 1456, doi. 10.1002/mds.20224
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- Publication type:
- Article
Rapid-onset dystonia-parkinsonism: A fourth family consistent with linkage to chromosome 19q13.
- Published in:
- Movement Disorders, 2004, v. 19, n. 12, p. 1506, doi. 10.1002/mds.20258
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- Publication type:
- Article
Distribution, type, and origin of Parkin mutations: Review and case studies.
- Published in:
- Movement Disorders, 2004, v. 19, n. 10, p. 1146, doi. 10.1002/mds.20234
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- Publication type:
- Article
Examination of the SGCE gene in Tourette syndrome patients with obsessive-compulsive disorder.
- Published in:
- Movement Disorders, 2004, v. 19, n. 10, p. 1237, doi. 10.1002/mds.20156
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- Publication type:
- Article
Phenotypic variability in a large kindred (Family LA) with deletions in the parkin gene.
- Published in:
- Movement Disorders, 2002, v. 17, n. 2, p. 424, doi. 10.1002/mds.10071
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- Publication type:
- Article
Concordant late onset of craniocervical dystonia in a pair of monozygotic twins.
- Published in:
- Movement Disorders, 1999, v. 14, n. 6, p. 1040, doi. 10.1002/1531-8257(199911)14:6<1040::AID-MDS1025>3.0.CO;2-9
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- Publication type:
- Article
Dimerization of the DYT6 dystonia protein, THAP1, requires residues within the coiled-coil domain.
- Published in:
- Journal of Neurochemistry, 2011, v. 118, n. 6, p. 1087, doi. 10.1111/j.1471-4159.2011.07386.x
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- Publication type:
- Article
Genome-wide mapping of IBD segments in an Ashkenazi PD cohort identifies associated haplotypes.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 17, p. 4693, doi. 10.1093/hmg/ddu158
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- Publication type:
- Article
Effects of genetic variations in the dystonia protein torsinA: identification of polymorphism at residue 216 as protein modifier.
- Published in:
- Human Molecular Genetics, 2006, v. 15, n. 8, p. 1355, doi. 10.1093/hmg/ddl055
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- Publication type:
- Article
TorsinA in PC12 cells: Localization in the endoplasmic reticulum and response to stress.
- Published in:
- Journal of Neuroscience Research, 2003, v. 72, n. 2, p. 158, doi. 10.1002/jnr.10567
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- Publication type:
- Article
Genetics in Dystonia: An Update.
- Published in:
- Current Neurology & Neuroscience Reports, 2013, v. 13, n. 12, p. 1, doi. 10.1007/s11910-013-0410-z
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- Publication type:
- Article
A hexanucleotide repeat modifies expressivity of X-linked dystonia parkinsonism.
- Published in:
- 2019
- By:
- Publication type:
- journal article
DYT‐TUBB4A (DYT4 Dystonia): Clinical Anthology of 11 Cases and Systematized Review.
- Published in:
- Movement Disorders Clinical Practice, 2022, v. 9, n. 5, p. 659, doi. 10.1002/mdc3.13452
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- Publication type:
- Article
Benign SLC39A14 Course of Dystonia‐Parkinsonism Secondary to Inherited Manganese Accumulation.
- Published in:
- Movement Disorders Clinical Practice, 2020, v. 7, n. 5, p. 569, doi. 10.1002/mdc3.12947
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- Publication type:
- Article
Rapid-Onset Dystonia-Parkinsonism in a Chinese Girl with a De Novo ATP1A3 c.2267G>A (p.R756H) Genetic Mutation.
- Published in:
- Movement Disorders Clinical Practice, 2015, v. 2, n. 1, p. 74, doi. 10.1002/mdc3.12122
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- Publication type:
- Article
Allelic Imbalance in TOR1A mRNA Expression inManifesting and Non-Manifesting Carriers of the GAG-Deletion.
- Published in:
- Journal of Nucleic Acids, 2012, p. 1, doi. 10.1155/2012/985260
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- Publication type:
- Article
Promise and challenges of dystonia brain banking: establishing a human tissue repository for studies of X-Linked Dystonia-Parkinsonism.
- Published in:
- Journal of Neural Transmission, 2021, v. 128, n. 4, p. 575, doi. 10.1007/s00702-020-02286-9
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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 GNAL cause primary torsion dystonia.
- Published in:
- Nature Genetics, 2013, v. 45, n. 1, p. 88, doi. 10.1038/ng.2496
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- Publication type:
- Article
Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia.
- Published in:
- Nature Genetics, 2009, v. 41, n. 3, p. 286, doi. 10.1038/ng.304
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- Publication type:
- Article
A dystonia-like movement disorder with brain and spinal neuronal defects is caused by mutation of the mouse laminin β1 subunit, Lamb1.
- Published in:
- eLife, 2015, p. 1, doi. 10.7554/eLife.11102
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- Publication type:
- Article
Polygenic Risk of Spasmodic Dysphonia is Associated With Vulnerable Sensorimotor Connectivity.
- Published in:
- Cerebral Cortex, 2018, v. 28, n. 1, p. 158, doi. 10.1093/cercor/bhw363
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- Publication type:
- Article
Rapid-onset dystonia-parkinsonism is associated with reduced cerebral blood flow without gray matter changes.
- Published in:
- Frontiers in Neurology, 2023, v. 14, p. 1, doi. 10.3389/fneur.2023.1116723
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- Publication type:
- Article
High-depth whole genome sequencing of an Ashkenazi Jewish reference panel: enhancing sensitivity, accuracy, and imputation.
- Published in:
- Human Genetics, 2018, v. 137, n. 4, p. 343, doi. 10.1007/s00439-018-1886-z
- By:
- Publication type:
- Article
The phenotypic spectrum of rapid-onset dystonia–parkinsonism (RDP) and mutations in the ATP1A3 gene.
- Published in:
- Brain: A Journal of Neurology, 2007, v. 130, n. 3, p. 828, doi. 10.1093/brain/awl340
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- Publication type:
- Article
ATP1A3 mutations in infants: a new rapid-onset dystonia-Parkinsonism phenotype characterized by motor delay and ataxia.
- Published in:
- Developmental Medicine & Child Neurology, 2012, v. 54, n. 11, p. 1065, doi. 10.1111/j.1469-8749.2012.04421.x
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- Publication type:
- Article
Mutations in THAP1/DYT6 reveal that diverse dystonia genes disrupt similar neuronal pathways and functions.
- Published in:
- PLoS Genetics, 2018, v. 14, n. 1, p. 1, doi. 10.1371/journal.pgen.1007169
- By:
- Publication type:
- Article
Rapid-onset dystonia-parkinsonism: case report.
- Published in:
- 2010
- By:
- Publication type:
- Letter
Differences in Sex‐Specific Frequency of Glucocerebrosidase Variant Carriers and Familial Parkinsonism.
- Published in:
- Movement Disorders, 2023, v. 38, n. 4, p. 714, doi. 10.1002/mds.29353
- By:
- Publication type:
- Article
Differences in Sex‐Specific Frequency of Glucocerebrosidase Variant Carriers and Familial Parkinsonism.
- Published in:
- Movement Disorders, 2022, v. 37, n. 11, p. 2217, doi. 10.1002/mds.29197
- By:
- 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
- By:
- 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