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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
The visual perception of natural motion: abnormal task-related neural activity in DYT1 dystonia.
- Published in:
- 2015
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- Publication type:
- journal article
DYT1 dystonia increases risk taking in humans.
- Published in:
- eLife, 2016, p. 1, doi. 10.7554/eLife.14155
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- Publication type:
- Article
Multiple sclerosis in LRRK2 G2019S Parkinson's disease and isolated nigral degeneration in a homozygous variant carrier.
- Published in:
- Frontiers in Neurology, 2024, p. 01, doi. 10.3389/fneur.2024.1450654
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- Publication type:
- Article
Disruption of network for visual perception of natural motion in primary dystonia.
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- Human Brain Mapping, 2018, v. 39, n. 3, p. 1163, doi. 10.1002/hbm.23907
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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
Clinical profiles and outcomes of deep brain stimulation in G2019S LRRK2 Parkinson disease.
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- Journal of Neurosurgery, 2022, v. 137, n. 1, p. 184, doi. 10.3171/2021.7.jns21190
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- Publication type:
- Article
Speech dysfunction in early Parkinson's disease.
- Published in:
- Movement Disorders, 1995, v. 10, n. 5, p. 562, doi. 10.1002/mds.870100506
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- Publication type:
- Article
Exclusion of the DYT1 locus in a non-Jewish family with early-onset dystonia.
- Published in:
- Movement Disorders, 1994, v. 9, n. 6, p. 626, doi. 10.1002/mds.870090608
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- Publication type:
- Article
Analysis of the clinical course of non-Jewish, autosomal dominant torsion dystonia.
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- Movement Disorders, 1986, v. 1, n. 3, p. 163, doi. 10.1002/mds.870010302
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- Publication type:
- Article
Cerebellothalamocortical Connectivity Regulates Penetrance in Dystonia.
- Published in:
- Journal of Neuroscience, 2009, v. 29, n. 31, p. 9740, doi. 10.1523/JNEUROSCI.2300-09.2009
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- Publication type:
- Article
Progression in the LRRK2-Asssociated Parkinson Disease Population.
- Published in:
- JAMA Neurology, 2018, v. 75, n. 3, p. 312, doi. 10.1001/jamaneurol.2017.4019
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- Publication type:
- Article
Complex and Dynamic Chromosomal Rearrangements in a Family With Seemingly Non-Mendelian Inheritance of Dopa-Responsive Dystonia.
- Published in:
- JAMA Neurology, 2017, v. 74, n. 7, p. 806, doi. 10.1001/jamaneurol.2017.0666
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- Publication type:
- Article
Cognitive and Motor Function in Long-Duration PARKIN-Associated Parkinson Disease.
- Published in:
- JAMA Neurology, 2014, v. 71, n. 1, p. 62, doi. 10.1001/jamaneurol.2013.4498
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- Publication type:
- Article
Increased sensorimotor network activity in DYT1 dystonia: a functional imaging study.
- Published in:
- Brain: A Journal of Neurology, 2010, v. 133, n. 3, p. 690, doi. 10.1093/brain/awq017
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- Publication type:
- Article
Increased cerebellar activation during sequence learning in DYT1 carriers: an equiperformance study.
- Published in:
- Brain: A Journal of Neurology, 2008, v. 131, n. 1, p. 146
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- 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
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
The metabolic pathology of dopa‐responsive dystonia.
- Published in:
- Annals of Neurology, 2005, v. 57, n. 4, p. 596
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- Publication type:
- Article
The R98Q variation in DJ-1 represents a rare polymorphism.
- Published in:
- Annals of Neurology, 2004, v. 55, n. 1, p. 145
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- Publication type:
- Article
Primary dystonia: Is abnormal functional brain architecture linked to genotype?
- Published in:
- Annals of Neurology, 2002, v. 52, n. 6, p. 853, doi. 10.1002/ana.10418
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- Publication type:
- Article
ε-sarcoglycan mutations found in combination with other dystonia gene mutations.
- Published in:
- Annals of Neurology, 2002, v. 52, n. 5, p. 675, doi. 10.1002/ana.10358
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- Publication type:
- Article
Disordered network structure and function in dystonia: pathological connectivity vs. adaptive responses.
- Published in:
- Cerebral Cortex, 2023, v. 33, n. 11, p. 6943, doi. 10.1093/cercor/bhad012
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- Publication type:
- Article
LRRK2 and GBA Variants Exert Distinct Influences on Parkinson's Disease-Specific Metabolic Networks.
- Published in:
- Cerebral Cortex, 2020, v. 30, n. 5, p. 2867, doi. 10.1093/cercor/bhz280
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- Publication type:
- Article
Thalamocortical Connectivity Correlates with Phenotypic Variability in Dystonia.
- Published in:
- Cerebral Cortex, 2015, v. 25, n. 9, p. 3086, doi. 10.1093/cercor/bhu104
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- Publication type:
- Article
Cognitive Functioning of Glucocerebrosidase (GBA) Non-manifesting Carriers.
- Published in:
- Frontiers in Neurology, 2021, v. 11, p. N.PAG, doi. 10.3389/fneur.2021.635958
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- Publication type:
- Article
Digitized Spiral Drawing: A Possible Biomarker for Early Parkinson’s Disease.
- Published in:
- PLoS ONE, 2016, v. 11, n. 10, p. 1, doi. 10.1371/journal.pone.0162799
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- Publication type:
- Article
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
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- 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
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- Publication type:
- Article
Assessment of Glucocerebrosidase Enzyme Activity in Parkinson Disease Using Multiple Approaches.
- Published in:
- Movement Disorders, 2022, v. 37, n. 3, p. 655, doi. 10.1002/mds.28951
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- Publication type:
- Article
Association of Dual LRRK2 G2019S and GBA Variations With Parkinson Disease Progression.
- Published in:
- JAMA Network Open, 2021, v. 4, n. 4, p. e215845, doi. 10.1001/jamanetworkopen.2021.5845
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- Publication type:
- Article
Localization of a gene for myoclonus-dystonia to chromosome 7q21-q31.
- Published in:
- 1999
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- Publication type:
- journal article
Rapid-onset dystonia-parkinsonism: linkage to chromosome 19q13.
- Published in:
- 1999
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- Publication type:
- journal article
Functional brain networks in DYT1 dystonia.
- Published in:
- Annals of Neurology, 1998, v. 44, n. 3, p. 303, doi. 10.1002/ana.410440304
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- Publication type:
- Article
Dystonia in Ashkenazi Jews: Clinical characterization of a founder mutation.
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- Annals of Neurology, 1994, v. 36, n. 5, p. 771, doi. 10.1002/ana.410360514
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- Publication type:
- Article
Dystonia gene in Ashkenazi Jewish population is located on chromosome 9q32-34.
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- Annals of Neurology, 1990, v. 27, n. 2, p. 114, doi. 10.1002/ana.410270203
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- Publication type:
- Article
Idiopathic dystonia among ashkenazi jews: Evidence for autosomal dominant inheritance.
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- Annals of Neurology, 1989, v. 26, n. 5, p. 612, doi. 10.1002/ana.410260505
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- Publication type:
- Article
Deep Brain Stimulation in Isolated Dystonia With a GNAL Mutation.
- Published in:
- 2019
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- Publication type:
- Letter
Application of the Movement Disorder Society prodromal criteria in healthy G2019S-LRRK2 carriers.
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- 2018
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- Publication type:
- journal article
Arm swing as a potential new prodromal marker of Parkinson's disease.
- Published in:
- 2016
- By:
- Publication type:
- journal article
REM sleep behavior disorder, as assessed by questionnaire, in G2019S LRRK2 mutation PD and carriers.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Low-variance RNAs identify Parkinson's disease molecular signature in blood.
- Published in:
- Movement Disorders, 2015, v. 30, n. 6, p. 813, doi. 10.1002/mds.26205
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- Publication type:
- 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
Reply: Dystonia after severe head injuries.
- Published in:
- Movement Disorders, 2014, v. 29, n. 4, p. 578, doi. 10.1002/mds.25861
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- Publication type:
- Article
Phenomenology and classification of dystonia: A consensus update.
- Published in:
- Movement Disorders, 2013, v. 28, n. 7, p. 863, doi. 10.1002/mds.25475
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- Publication type:
- Article
Primary dystonia: Moribund or viable.
- Published in:
- Movement Disorders, 2013, v. 28, n. 7, p. 906, doi. 10.1002/mds.25528
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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
Phenotypic spectrum of musician's dystonia: A task-specific disorder?
- Published in:
- Movement Disorders, 2011, v. 26, n. 3, p. 546, doi. 10.1002/mds.23526
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- Publication type:
- Article