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Phasic Knee Bending Dystonic and Parkinsonian Gait: A Characteristic Finding in X‐Linked Dystonia Parkinsonism.
- Published in:
- Movement Disorders Clinical Practice, 2020, v. 7, n. 4, p. 448, doi. 10.1002/mdc3.12929
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- Publication type:
- Article
Beyond Dystonia-Parkinsonism: Chorea and Ataxia with ATP1A3 Mutations.
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- Movement Disorders Clinical Practice, 2016, v. 3, n. 4, p. 402, doi. 10.1002/mdc3.12317
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- Publication type:
- Article
Tissue-specific and repeat length-dependent somatic instability of the X-linked dystonia parkinsonism-associated CCCTCT repeat.
- Published in:
- Acta Neuropathologica Communications, 2022, v. 10, n. 1, p. 1, doi. 10.1186/s40478-022-01349-0
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- Publication type:
- Article
Correction to: Tissue-specific and repeat length-dependent somatic instability of the X-linked dystonia parkinsonism-associated CCCTCT repeat.
- Published in:
- 2022
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- Publication type:
- Correction Notice
Tissue-specific and repeat length-dependent somatic instability of the X-linked dystonia parkinsonism-associated CCCTCT repeat.
- Published in:
- Acta Neuropathologica Communications, 2022, v. 10, n. 1, p. 1, doi. 10.1186/s40478-022-01349-0
- By:
- Publication type:
- Article
Tissue-specific and repeat length-dependent somatic instability of the X-linked dystonia parkinsonism-associated CCCTCT repeat.
- Published in:
- Acta Neuropathologica Communications, 2022, v. 10, n. 1, p. 1, doi. 10.1186/s40478-022-01349-0
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- Publication type:
- Article
Synthesis of Some Salicylaldehyde-Based Schiff Bases in Aqueous Media.
- Published in:
- Journal of Chemistry, 2013, p. 1, doi. 10.1155/2013/909217
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- Publication type:
- Article
White Matter Changes in Cervical Dystonia Relate to Clinical Effectiveness of Botulinum Toxin Treatment.
- Published in:
- Frontiers in Neurology, 2019, p. N.PAG, doi. 10.3389/fneur.2019.00265
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- Publication type:
- Article
Treatment of ADCY5-Associated Dystonia, Chorea, and Hyperkinetic Disorders With Deep Brain Stimulation.
- Published in:
- Journal of Child Neurology, 2016, v. 31, n. 8, p. 1027, doi. 10.1177/0883073816635749
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- Publication type:
- Article
Hyperkinetic Movements in Children: Differential Diagnosis, Evaluation, and Treatment.
- Published in:
- Primary Care Companion for CNS Disorders (2155-7772), 2021, v. 23, n. 2, p. e1, doi. 10.4088/PCC.20f02840
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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
Functional validation of novel variants in B4GALNT1 associated with early‐onset complex hereditary spastic paraplegia with impaired ganglioside synthesis.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2590, doi. 10.1002/ajmg.a.62880
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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
Dopamine Receptor and Gα(olf) Expression in DYT1 Dystonia Mouse Models during Postnatal Development.
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- PLoS ONE, 2015, v. 10, n. 4, p. 1, doi. 10.1371/journal.pone.0123104
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- Publication type:
- Article
Dopa-Responsive Dystonia: Functional Analysis of Single Nucleotide Substitutions within the 5’ Untranslated <i>GCH1</i> Region.
- Published in:
- PLoS ONE, 2013, v. 8, n. 10, p. 1, doi. 10.1371/journal.pone.0076975
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- Publication type:
- Article
Evidence for Altered Basal Ganglia-Brainstem Connections in Cervical Dystonia.
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- PLoS ONE, 2012, v. 7, n. 2, p. 1, doi. 10.1371/journal.pone.0031654
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- Publication type:
- Article
Update on Treatments for Dystonia.
- Published in:
- Current Neurology & Neuroscience Reports, 2014, v. 14, n. 6, p. 1, doi. 10.1007/s11910-014-0454-8
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- Publication type:
- Article
Motor assessment of X-linked dystonia parkinsonism via machine-learning-based analysis of wearable sensor data.
- Published in:
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-63946-4
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- Publication type:
- Article
DYT- PRKRA Mutation P222L Enhances PACT's Stimulatory Activity on Type I Interferon Induction.
- Published in:
- Biomolecules (2218-273X), 2022, v. 12, n. 5, p. 713, doi. 10.3390/biom12050713
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- Publication type:
- Article
Orai3 Regulates Pancreatic Cancer Metastasis by Encoding a Functional Store Operated Calcium Entry Channel.
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- Cancers, 2021, v. 13, n. 23, p. 5937, doi. 10.3390/cancers13235937
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- Publication type:
- Article
SVA insertion in X-linked Dystonia Parkinsonism alters histone H3 acetylation associated with TAF1 gene.
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- PLoS ONE, 2020, v. 15, n. 12, p. 1, doi. 10.1371/journal.pone.0243655
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- Publication type:
- Article
Secondary Worsening Following DYT1 Dystonia Deep Brain Stimulation: A Multi-country Cohort.
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- Frontiers in Human Neuroscience, 2020, v. 14, p. 1, doi. 10.3389/fnhum.2020.00242
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- Publication type:
- Article
Impaired Motor Learning in Mice Expressing TorsinA with the DYT1 Dystonia Mutation.
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- Journal of Neuroscience, 2005, v. 25, n. 22, p. 5351, doi. 10.1523/JNEUROSCI.0855-05.2005
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- Publication type:
- Article
Voice and swallowing dysfunction in X-linked dystonia parkinsonism.
- Published in:
- 2020
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- Publication type:
- journal article
Neuropathology of Dystonia.
- Published in:
- Tremor & Other Hyperkinetic Movements, 2019, p. 1, doi. 10.7916/d8-j6sx-b156
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- Publication type:
- Article
Impairment of bidirectional synaptic plasticity in the striatum of a mouse model of DYT1 dystonia: role of endogenous acetylcholine.
- Published in:
- Brain: A Journal of Neurology, 2009, v. 132, n. 9, p. 2336, doi. 10.1093/brain/awp194
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- Publication type:
- Article
Alpha-synuclein has an altered conformation and shows a tight intermolecular interaction with ubiquitin in Lewy bodies.
- Published in:
- Acta Neuropathologica, 2001, v. 102, n. 4, p. 329, doi. 10.1007/s004010100369
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- Publication type:
- Article
Functional dystonia: A case‐control study and risk prediction algorithm.
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- Annals of Clinical & Translational Neurology, 2021, v. 8, n. 4, p. 732, doi. 10.1002/acn3.51307
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- Publication type:
- Article
Recurrent flare-associated urticaria in adenosine deaminase type 2 deficiency.
- Published in:
- 2024
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- Publication type:
- Case Study
In humans, striato-pallido-thalamic projections are largely segregated by their origin in either the striosome-like or matrix-like compartments.
- Published in:
- Frontiers in Neuroscience, 2023, p. 1, doi. 10.3389/fnins.2023.1178473
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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
Function of dopamine transporter is compromised in DYT1 transgenic animal model in vivo.
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- Journal of Neurochemistry, 2010, v. 113, n. 1, p. 228, doi. 10.1111/j.1471-4159.2010.06590.x
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- Publication type:
- Article
Point-of-care ultrasonography of the orbit for detection of retinal detachment in a patient with hemolysis, elevated liver enzymes, and low platelet count syndrome.
- Published in:
- Indian Journal of Critical Care Medicine, 2016, v. 20, n. 9, p. 545, doi. 10.4103/0972-5229.190364
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- Publication type:
- Article
Functional Dystonia: Differentiation From Primary Dystonia and Multidisciplinary Treatments.
- Published in:
- Frontiers in Neurology, 2021, v. 11, p. N.PAG, doi. 10.3389/fneur.2020.605262
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- Publication type:
- Article
Isolated Cervical Dystonia: Management and Barriers to Care.
- Published in:
- Frontiers in Neurology, 2020, v. 11, p. N.PAG, doi. 10.3389/fneur.2020.591418
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- Publication type:
- Article
Neurogenesis and Neuronal Migration in the Forebrain of the TorsinA Knockout Mouse Embryo.
- Published in:
- Developmental Neuroscience, 2012, v. 34, n. 4, p. 366, doi. 10.1159/000342260
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- Publication type:
- Article
Neurogenesis and Neuronal Migration in the Forebrain of the TorsinA Knockout Mouse Embryo.
- Published in:
- Developmental Neuroscience, 2012, v. 34, n. 4, p. 366, doi. 10.1159/000342260
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- Publication type:
- Article
Thalamic Volume Is Reduced in Cervical and Laryngeal Dystonias.
- Published in:
- PLoS ONE, 2016, v. 11, n. 5, p. 1, doi. 10.1371/journal.pone.0155302
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- Publication type:
- Article
On Water Pictet‐Spengler Reaction of Tryptophan followed by Buchwald Coupling for the Synthesis of Natural Products Stellarines A, B and β‐Carboline Derivatives: Their Molecular Docking against SARS‐CoV‐2 M<sup>Pro</sup>.
- Published in:
- ChemistrySelect, 2023, v. 8, n. 11, p. 1, doi. 10.1002/slct.202300080
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- Publication type:
- Article
Solvent‐Free Synthesis of Glycoside Annulated 1,2,3‐Triazole Based Dihydropyrimidinones using Copper Ferrite Nanomaterials as Heterogeneous Catalyst and DFT Studies.
- Published in:
- ChemistrySelect, 2022, v. 7, n. 7, p. 1, doi. 10.1002/slct.202103910
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- Publication type:
- Article
A description of novel variants and review of phenotypic spectrum in UBA5-related early epileptic encephalopathy.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2021, v. 7, n. 3, p. 1, doi. 10.1101/mcs.a005827
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- Publication type:
- Article
Ultrasound-Accelerated, Concise, and Highly Efficient Synthesis of 2-Oxazoline Derivatives Using Heterogenous Calcium Ferrite Nanoparticles and Their DFT Studies.
- Published in:
- Journal of Chemistry, 2021, p. 1, doi. 10.1155/2021/7375058
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- Publication type:
- Article
Pallidal deep brain stimulation for dystonia: a case series.
- Published in:
- Journal of Neurosurgery, 2013, p. 582, doi. 10.3171/2013.8.PEDS13134
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- Publication type:
- Article
Deep brain stimulation for medically refractory life-threatening status dystonicus in children.
- Published in:
- Journal of Neurosurgery, 2012, p. 99, doi. 10.3171/2011.10.PEDS11360
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- Publication type:
- Article
Dopamine release is impaired in a mouse model of DYT1 dystonia.
- Published in:
- Journal of Neurochemistry, 2007, v. 102, n. 3, p. 783, doi. 10.1111/j.1471-4159.2007.04590.x
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- Publication type:
- Article
Interaction of α-synuclein and synphilin-1: effect of Parkinson's disease-associated mutations.
- Published in:
- Journal of Neurochemistry, 2001, v. 77, n. 3, p. 929, doi. 10.1046/j.1471-4159.2001.00301.x
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- Publication type:
- Article
Low CSF 5-HIAA in Myoclonus Dystonia.
- Published in:
- 2017
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- Publication type:
- Letter
Mutation in 5' upstream region of GCHI gene causes familial dopa-responsive dystonia.
- Published in:
- 2011
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- 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
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