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Efficient estimation of nonparametric genetic risk function with censored data.
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- Biometrika, 2015, v. 102, n. 3, p. 515, doi. 10.1093/biomet/asv030
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- Article
Benign SLC39A14 Course of Dystonia‐Parkinsonism Secondary to Inherited Manganese Accumulation.
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- Movement Disorders Clinical Practice, 2020, v. 7, n. 5, p. 569, doi. 10.1002/mdc3.12947
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- Article
Hierarchical Data-Driven Analysis of Clinical Symptoms Among Patients With Parkinson's Disease.
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- Frontiers in Neurology, 2019, p. N.PAG, doi. 10.3389/fneur.2019.00531
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- Article
Parkinson's disease variant detection and disclosure: PD GENEration, a North American study.
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- Brain: A Journal of Neurology, 2024, v. 147, n. 8, p. 2668, doi. 10.1093/brain/awae142
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- Article
The visual perception of natural motion: abnormal task-related neural activity in DYT1 dystonia.
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- 2015
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- Publication type:
- journal article
DYT1 dystonia increases risk taking in humans.
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- eLife, 2016, p. 1, doi. 10.7554/eLife.14155
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- Article
Multiple sclerosis in LRRK2 G2019S Parkinson's disease and isolated nigral degeneration in a homozygous variant carrier.
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- Frontiers in Neurology, 2024, p. 01, doi. 10.3389/fneur.2024.1450654
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- Article
Neuropsychological Profile of Parkin Mutation Carriers with and without Parkinson Disease: The CORE-PD Study.
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- Journal of the International Neuropsychological Society, 2011, v. 17, n. 1, p. 91, doi. 10.1017/S1355617710001190
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- Article
Neuropsychological Profile of Parkin Mutation Carriers with and without Parkinson Disease: The CORE-PD Study.
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- Journal of the International Neuropsychological Society, 2010, v. 17, n. 1, p. 91, doi. 10.1017/S1355617710001190
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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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- Article
Mutations in GNAL cause primary torsion dystonia.
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- Nature Genetics, 2013, v. 45, n. 1, p. 88, doi. 10.1038/ng.2496
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- Article
Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia.
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- Nature Genetics, 2009, v. 41, n. 3, p. 286, doi. 10.1038/ng.304
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- Article
What’s new in dystonia?
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- Current Neurology & Neuroscience Reports, 2009, v. 9, n. 4, p. 278, doi. 10.1007/s11910-009-0042-5
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- 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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- Article
Speech dysfunction in early Parkinson's disease.
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- Movement Disorders, 1995, v. 10, n. 5, p. 562, doi. 10.1002/mds.870100506
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- Article
Dystonia in a patient with deletion of 18q.
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- Movement Disorders, 1995, v. 10, n. 4, p. 496, doi. 10.1002/mds.870100415
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- Publication type:
- Article
Exclusion of the DYT1 locus in a non-Jewish family with early-onset dystonia.
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- Movement Disorders, 1994, v. 9, n. 6, p. 626, doi. 10.1002/mds.870090608
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- 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
High-depth whole genome sequencing of an Ashkenazi Jewish reference panel: enhancing sensitivity, accuracy, and imputation.
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- Human Genetics, 2018, v. 137, n. 4, p. 343, doi. 10.1007/s00439-018-1886-z
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- Article
A cognitive fMRI study in non-manifesting LRRK2 and GBA carriers.
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- Brain Structure & Function, 2017, v. 222, n. 3, p. 1207, doi. 10.1007/s00429-016-1271-4
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- Article
Cerebellothalamocortical Connectivity Regulates Penetrance in Dystonia.
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- Journal of Neuroscience, 2009, v. 29, n. 31, p. 9740, doi. 10.1523/JNEUROSCI.2300-09.2009
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- Article
Anti–Tumor Necrosis Factor Therapy and Incidence of Parkinson Disease Among Patients With Inflammatory Bowel Disease.
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- JAMA Neurology, 2018, v. 75, n. 8, p. 939, doi. 10.1001/jamaneurol.2018.0605
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- Article
Progression in the LRRK2-Asssociated Parkinson Disease Population.
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- 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.
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- JAMA Neurology, 2017, v. 74, n. 7, p. 806, doi. 10.1001/jamaneurol.2017.0666
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- Article
Higher Frequency of Certain Cancers in LRRK2 G2019S Mutation Carriers With Parkinson Disease A Pooled Analysis.
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- JAMA Neurology, 2015, v. 72, n. 1, p. 58, doi. 10.1001/jamaneurol.2014.1973
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- Publication type:
- Article
Cognitive and Motor Function in Long-Duration PARKIN-Associated Parkinson Disease.
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- JAMA Neurology, 2014, v. 71, n. 1, p. 62, doi. 10.1001/jamaneurol.2013.4498
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- Article
Interest in Genetic Testing in Ashkenazi Jewish Parkinson's Disease Patients and Their Unaffected Relatives.
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- Journal of Genetic Counseling, 2015, v. 24, n. 2, p. 238, doi. 10.1007/s10897-014-9756-x
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- Article
Cerebral pathological and compensatory mechanisms in the premotor phase of leucine-rich repeat kinase 2 parkinsonism.
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- Brain: A Journal of Neurology, 2012, v. 135, n. 12, p. 3687
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- Article
Impaired sequence learning in dystonia mutation carriers: a genotypic effect.
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- Brain: A Journal of Neurology, 2011, v. 134, n. 5, p. 1416, doi. 10.1093/brain/awr060
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- Article
Increased sensorimotor network activity in DYT1 dystonia: a functional imaging study.
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- Brain: A Journal of Neurology, 2010, v. 133, n. 3, p. 690, doi. 10.1093/brain/awq017
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- Article
Metabolomic profiling to develop blood biomarkers for Parkinson's disease.
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- 2008
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- Publication type:
- journal article
Metabolomic profiling to develop blood biomarkers for Parkinsons disease.
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- Brain: A Journal of Neurology, 2008, v. 131, n. 2, p. 389, doi. 10.1093/brain/awm304
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- Article
Increased cerebellar activation during sequence learning in DYT1 carriers: an equiperformance study.
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- Brain: A Journal of Neurology, 2008, v. 131, n. 1, p. 146
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- Article
The phenotypic spectrum of rapid-onset dystonia–parkinsonism (RDP) and mutations in the ATP1A3 gene.
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- Brain: A Journal of Neurology, 2007, v. 130, n. 3, p. 828, doi. 10.1093/brain/awl340
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- Article
Genetic risk variants in New Yorkers of Puerto Rican and Dominican Republic heritage with Parkinson's disease.
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- NPJ Parkinson's Disease, 2023, v. 9, n. 1, p. 1, doi. 10.1038/s41531-023-00599-6
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- Article
Sex differences in LRRK2 G2019S and idiopathic Parkinson's Disease.
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- Annals of Clinical & Translational Neurology, 2017, v. 4, n. 11, p. 801, doi. 10.1002/acn3.489
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- Article
Reply to: Cognitive Effects of Deep Brain Stimulation in GBA‐Related Parkinson's Disease.
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- Annals of Neurology, 2022, v. 92, n. 2, p. 345, doi. 10.1002/ana.26433
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- Article
Parkinson Disease and Subthalamic Nucleus Deep Brain Stimulation: Cognitive Effects in GBA Mutation Carriers.
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- Annals of Neurology, 2022, v. 91, n. 3, p. 424, doi. 10.1002/ana.26302
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- Article
Genomewide Association Studies of LRRK2 Modifiers of Parkinson's Disease.
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- 2021
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- Publication type:
- journal article
Head injury, alpha-synuclein Rep1, and Parkinson's disease.
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- Annals of Neurology, 2012, v. 71, n. 1, p. 40, doi. 10.1002/ana.22499
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- Article
The metabolic pathology of dopa‐responsive dystonia.
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- Annals of Neurology, 2005, v. 57, n. 4, p. 596
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- Article
Microstructural white matter changes in carriers of the DYT1 gene mutation.
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- Annals of Neurology, 2004, v. 56, n. 2, p. 283
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- Article
The R98Q variation in DJ-1 represents a rare polymorphism.
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- Annals of Neurology, 2004, v. 55, n. 1, p. 145
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- Article
Impaired sequence learning in carriers of the DYT1 dystonia mutation.
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- Annals of Neurology, 2003, v. 54, n. 1, p. 102
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- Article
Primary dystonia: Is abnormal functional brain architecture linked to genotype?
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- Annals of Neurology, 2002, v. 52, n. 6, p. 853, doi. 10.1002/ana.10418
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- Article
ε-sarcoglycan mutations found in combination with other dystonia gene mutations.
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- Annals of Neurology, 2002, v. 52, n. 5, p. 675, doi. 10.1002/ana.10358
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- Article
Disordered network structure and function in dystonia: pathological connectivity vs. adaptive responses.
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- Cerebral Cortex, 2023, v. 33, n. 11, p. 6943, doi. 10.1093/cercor/bhad012
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- Article
LRRK2 and GBA Variants Exert Distinct Influences on Parkinson's Disease-Specific Metabolic Networks.
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- Cerebral Cortex, 2020, v. 30, n. 5, p. 2867, doi. 10.1093/cercor/bhz280
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- Article
Thalamocortical Connectivity Correlates with Phenotypic Variability in Dystonia.
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- Cerebral Cortex, 2015, v. 25, n. 9, p. 3086, doi. 10.1093/cercor/bhu104
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- 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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- Article