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Stability of Mosaic Divergent Repeat Interruptions in X‐Linked Dystonia‐Parkinsonism.
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- Movement Disorders, 2024, v. 39, n. 7, p. 1145, doi. 10.1002/mds.29809
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- Publication type:
- Article
α‐Synuclein Pathology in PRKN‐Linked Parkinson's Disease: New Insights from a Blood‐Based Seed Amplification Assay.
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- Annals of Neurology, 2024, v. 95, n. 6, p. 1173, doi. 10.1002/ana.26917
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- Article
RFC1 and FGF14 Repeat Expansions in Serbian Patients with Cerebellar Ataxia.
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- Movement Disorders Clinical Practice, 2024, v. 11, n. 6, p. 626, doi. 10.1002/mdc3.14020
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- Article
GPi/GPe borderland– a potential sweet spot for deep brain stimulation for chorea in Huntington's disease?
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- Neurological Research & Practice, 2024, v. 6, n. 1, p. 1, doi. 10.1186/s42466-024-00316-5
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- Article
Levodopa Impairs the Energy Metabolism of the Basal Ganglia In Vivo.
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- Annals of Neurology, 2024, v. 95, n. 5, p. 849, doi. 10.1002/ana.26884
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- Article
Neuroenergetic Changes in Patients with X‐Linked Dystonia‐Parkinsonism and Female Carriers.
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- Movement Disorders Clinical Practice, 2024, v. 11, n. 5, p. 550, doi. 10.1002/mdc3.14001
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- Article
POLG2-Linked Mitochondrial Disease: Functional Insights from New Mutation Carriers and Review of the Literature.
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- Cerebellum, 2024, v. 23, n. 2, p. 479, doi. 10.1007/s12311-023-01557-x
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- Article
Aβ38 and Aβ43 do not differentiate between Alzheimer's disease and cerebral amyloid angiopathy.
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- Annals of Clinical & Translational Neurology, 2024, v. 11, n. 3, p. 806, doi. 10.1002/acn3.51987
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- Article
Large‐Scale Screening: Phenotypic and Mutational Spectrum in Isolated and Combined Dystonia Genes.
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- Movement Disorders, 2024, v. 39, n. 3, p. 526, doi. 10.1002/mds.29693
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- Article
Creative thinking and cognitive estimation in Parkinson's disease.
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- Neurological Research & Practice, 2024, v. 6, p. 1, doi. 10.1186/s42466-023-00304-1
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- Article
Longitudinal predictors of health-related quality of life in isolated dystonia.
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- Journal of Neurology, 2024, v. 271, n. 2, p. 852, doi. 10.1007/s00415-023-12022-4
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- Publication type:
- Article
Bilateral vestibulopathy in RFC1-positive CANVAS is distinctly different compared to FGF14-linked spinocerebellar ataxia 27B.
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- Journal of Neurology, 2024, v. 271, n. 2, p. 1023, doi. 10.1007/s00415-023-12050-0
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- Article
Mechanisms and consequences of weight gain after deep brain stimulation of the subthalamic nucleus in patients with Parkinson's disease.
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- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-40316-0
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- Article
In humans, striato-pallido-thalamic projections are largely segregated by their origin in either the striosome-like or matrix-like compartments.
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- Frontiers in Neuroscience, 2023, p. 1, doi. 10.3389/fnins.2023.1178473
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- Article
Characterization of the pathogenic α-Synuclein Variant V15A in Parkinson´s disease.
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- NPJ Parkinson's Disease, 2023, v. 9, n. 1, p. 1, doi. 10.1038/s41531-023-00584-z
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- Article
Oculomotor abnormalities indicate early executive dysfunction in prodromal X-linked dystonia-parkinsonism (XDP).
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- Journal of Neurology, 2023, v. 270, n. 9, p. 4262, doi. 10.1007/s00415-023-11761-8
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- Publication type:
- Article
Mechanisms and consequences of weight gain after deep brain stimulation of the subthalamic nucleus in patients with Parkinson's disease.
- Published in:
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-40316-0
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- Publication type:
- Article
Characterisation and differential diagnosis of neurological complications in adults with phenylketonuria: literature review and expert opinion.
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- Journal of Neurology, 2023, v. 270, n. 8, p. 3675, doi. 10.1007/s00415-023-11703-4
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- Publication type:
- Article
Depressive symptoms in Parkinson's disease are insufficiently but more often treated than in other chronic conditions.
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- NPJ Parkinson's Disease, 2023, v. 9, n. 1, p. 1, doi. 10.1038/s41531-023-00551-8
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- Publication type:
- Article
Neuroinflammation and Mitochondrial Dysfunction in Parkinson's Disease: Connecting Neuroimaging with Pathophysiology.
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- Antioxidants, 2023, v. 12, n. 7, p. 1411, doi. 10.3390/antiox12071411
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- Article
Mitochondrial DNA heteroplasmy distinguishes disease manifestation in PINK1/PRKN-linked Parkinson's disease.
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- Brain: A Journal of Neurology, 2023, v. 146, n. 7, p. 2753, doi. 10.1093/brain/awac464
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- Article
Characterizing mixed location hemorrhages/microbleeds with CSF markers.
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- International Journal of Stroke, 2023, v. 18, n. 6, p. 728, doi. 10.1177/17474930231152124
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- Article
Basal Ganglia Atrophy as a Marker for Prodromal X‐Linked Dystonia‐Parkinsonism.
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- Annals of Neurology, 2023, v. 93, n. 5, p. 999, doi. 10.1002/ana.26606
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- Publication type:
- Article
Mosaic divergent repeat interruptions in XDP influence repeat stability and disease onset.
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- Brain: A Journal of Neurology, 2023, v. 146, n. 3, p. 1075, doi. 10.1093/brain/awac160
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- Article
Not to Miss: Intronic Variants, Treatment, and Review of the Phenotypic Spectrum in VPS13D -Related Disorder.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 3, p. 1874, doi. 10.3390/ijms24031874
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- Article
Electric field aspects in hypoglossal nerve stimulation for obstructive sleep apnea: A bilateral electrophysiological evaluation of unilateral electrode configuration changes.
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- Journal of Sleep Research, 2023, v. 32, n. 1, p. 1, doi. 10.1111/jsr.13592
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- Article
Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort.
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- Movement Disorders, 2023, v. 38, n. 2, p. 286, doi. 10.1002/mds.29288
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- Article
Spectrum of Pediatric to Early Adulthood POLR3A‐Associated Movement Disorders.
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- Movement Disorders Clinical Practice, 2023, v. 10, n. 2, p. 316, doi. 10.1002/mdc3.13635
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- Article
A Novel ECEL1 Variant Associated with a Congenital Contracture Disorder.
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- Pakistan Journal of Zoology, 2023, v. 55, n. 1, p. 391, doi. 10.17582/journal.pjz/20191118061114
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- Article
Iron- and Neuromelanin-Weighted Neuroimaging to Study Mitochondrial Dysfunction in Patients with Parkinson's Disease.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 22, p. 13678, doi. 10.3390/ijms232213678
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- Article
Atypical Parkinsonism with Pathological Dopamine Transporter Imaging in Neuronal Ceroid Lipofuscinosis Type 5.
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- Movement Disorders Clinical Practice, 2022, v. 9, n. 8, p. 1116, doi. 10.1002/mdc3.13562
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- Article
Entwicklung und inhaltliche Validierung eines Fragebogens für funktionelle Bewegungsstörungen.
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- Der Nervenarzt, 2022, v. 93, n. 10, p. 1009, doi. 10.1007/s00115-021-01247-1
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- Article
Bi-Allelic COQ4 Variants Cause Adult-Onset Ataxia-Spasticity Spectrum Disease.
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- 2022
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- Publication type:
- journal article
Low Frequency of p.S510G in PIAS1 Challenges its Relevance for Modifying Repeat Expansion Disorders.
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- Movement Disorders, 2022, v. 37, n. 10, p. 2168, doi. 10.1002/mds.29191
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- Article
Increased Subcortical Sodium Levels in Patients with Progressive Supranuclear Palsy.
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- Biomedicines, 2022, v. 10, n. 7, p. N.PAG, doi. 10.3390/biomedicines10071728
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- Article
Altered alpha and theta oscillations correlate with sequential working memory in Parkinson's disease.
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- Brain Communications, 2022, v. 4, n. 3, p. 1, doi. 10.1093/braincomms/fcac096
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- Article
Neuroimaging Methods to Map In Vivo Changes of OXPHOS and Oxidative Stress in Neurodegenerative Disorders.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 13, p. 7263, doi. 10.3390/ijms23137263
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- Publication type:
- Article
NPTX1-related oculomotor apraxia: an intra-hemispheric disconnection disorder.
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- Journal of Neurology, 2022, v. 269, n. 7, p. 3931, doi. 10.1007/s00415-022-11057-3
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- Article
Prodromal X‐Linked Dystonia‐Parkinsonism is Characterized by a Subclinical Motor Phenotype.
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- Movement Disorders, 2022, v. 37, n. 7, p. 1474, doi. 10.1002/mds.29033
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- Publication type:
- Article
Head impulse testing in bilateral vestibulopathy in patients with genetically defined CANVAS.
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- Brain & Behavior, 2022, v. 12, n. 6, p. 1, doi. 10.1002/brb3.2546
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- Publication type:
- Article
Clinical relevance and translational impact of reduced penetrance in genetic movement disorders.
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- Medizinische Genetik, 2022, v. 34, n. 2, p. 151, doi. 10.1515/medgen-2022-2128
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- Article
In Vivo Brain Sodium Disequilibrium in ATP1A3‐Related Rapid‐Onset Dystonia‐Parkinsonism.
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- Movement Disorders, 2022, v. 37, n. 4, p. 877, doi. 10.1002/mds.28954
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- Publication type:
- Article
Relationship between brain iron deposition and mitochondrial dysfunction in idiopathic Parkinson's disease.
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- Molecular Medicine, 2022, v. 28, n. 1, p. 1, doi. 10.1186/s10020-021-00426-9
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- Publication type:
- Article
Transcriptional Alterations in X-Linked Dystonia–Parkinsonism Caused by the SVA Retrotransposon.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 4, p. 2231, doi. 10.3390/ijms23042231
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- Publication type:
- Article
Cerebrospinal Fluid Biomarkers in Cerebral Amyloid Angiopathy: New Data and Quantitative Meta-Analysis.
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- Frontiers in Aging Neuroscience, 2022, v. 14, p. 1, doi. 10.3389/fnagi.2022.783996
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- Article
Relationship of Genotype, Phenotype, and Treatment in Dopa‐Responsive Dystonia: MDSGene Review.
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- Movement Disorders, 2022, v. 37, n. 2, p. 237, doi. 10.1002/mds.28874
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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.
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- Genes, 2022, v. 13, n. 1, p. 126, doi. 10.3390/genes13010126
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- Article
Validity and Prognostic Value of a Polygenic Risk Score for Parkinson's Disease.
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- Genes, 2021, v. 12, n. 12, p. 1859, doi. 10.3390/genes12121859
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- Article
Gene Therapeutic Approaches for the Treatment of Mitochondrial Dysfunction in Parkinson's Disease.
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- Genes, 2021, v. 12, n. 11, p. 1840, doi. 10.3390/genes12111840
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- Article
Multimodal Longitudinal Neurophysiological Investigations in Dopa‐Responsive Dystonia.
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- Movement Disorders, 2021, v. 36, n. 8, p. 1986, doi. 10.1002/mds.28679
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- Publication type:
- Article