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iPSC-derived neuronal models of PANK2-associated neurodegeneration reveal mitochondrial dysfunction contributing to early disease.
- Published in:
- PLoS ONE, 2017, v. 12, n. 9, p. 1, doi. 10.1371/journal.pone.0184104
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- Publication type:
- Article
Three faces of the same gene: FA2H links neurodegeneration with brain iron accumulation, leukodystrophies, and hereditary spastic paraplegias.
- Published in:
- Annals of Neurology, 2010, v. 68, n. 5, p. 575, doi. 10.1002/ana.22211
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- Publication type:
- Article
Characterization of PLA2G6 as a locus for dystonia-parkinsonism.
- Published in:
- Annals of Neurology, 2009, v. 65, n. 1, p. 19, doi. 10.1002/ana.21415
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- Publication type:
- Article
UCHL‐1 is not a Parkinson's disease susceptibility gene.
- Published in:
- Annals of Neurology, 2006, v. 59, n. 4, p. 627
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- Publication type:
- Article
The gene responsible for PARK6 Parkinson's disease, PINK1, does not influence common forms of parkinsonism.
- Published in:
- Annals of Neurology, 2004, v. 56, n. 3, p. 329
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- Publication type:
- Article
The promoter region of the Menkes gene ATP7A is not altered in focal or generalized dystonia.
- Published in:
- Annals of Neurology, 2003, v. 53, n. 2, p. 278
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- Publication type:
- Article
Myoclonus-dystonia syndrome: ε-sarcoglycan mutations and phenotype.
- Published in:
- Annals of Neurology, 2002, v. 52, n. 4, p. 489, doi. 10.1002/ana.10325
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- Publication type:
- Article
Errors in the meta-analysis of outcomes and complications of MRgFUS.
- Published in:
- Neurosurgical Focus, 2018, v. 45, n. 1, p. 1, doi. 10.3171/2018.3.FOCUS1898
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- Publication type:
- Article
Triheptanoin Did Not Show Benefit versus Placebo for the Treatment of Paroxysmal Movement Disorders in Glut1 Deficiency Syndrome: Results of a Randomized Phase 3 Study.
- Published in:
- Movement Disorders, 2024, v. 39, n. 8, p. 1386, doi. 10.1002/mds.29822
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- Publication type:
- Article
Differential Synaptic Loss in β‐Amyloid Positive Versus β‐Amyloid Negative Corticobasal Syndrome.
- Published in:
- Movement Disorders, 2024, v. 39, n. 7, p. 1166, doi. 10.1002/mds.29814
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- Publication type:
- Article
Isolated Cervical Dystonia: Diagnosis and Classification.
- Published in:
- Movement Disorders, 2023, v. 38, n. 8, p. 1367, doi. 10.1002/mds.29387
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- Publication type:
- Article
Longitudinal Synaptic Loss in Primary Tauopathies: An In Vivo [<sup>11</sup>C]UCB‐J Positron Emission Tomography Study.
- Published in:
- Movement Disorders, 2023, v. 38, n. 7, p. 1316, doi. 10.1002/mds.29421
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- Publication type:
- Article
Machine Learning in Tremor Analysis: Critique and Directions.
- Published in:
- Movement Disorders, 2023, v. 38, n. 5, p. 717, doi. 10.1002/mds.29376
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- Publication type:
- Article
A Screening Tool to Quickly Identify Movement Disorders in Patients with Inborn Errors of Metabolism.
- Published in:
- Movement Disorders, 2023, v. 38, n. 4, p. 646, doi. 10.1002/mds.29332
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- Publication type:
- Article
Detection and Characterization of a De Novo Alu Retrotransposition Event Causing NKX2‐1‐Related Disorder.
- Published in:
- Movement Disorders, 2023, v. 38, n. 2, p. 347, doi. 10.1002/mds.29280
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- Publication type:
- Article
Ethnic Differences in Dystonia Prevalence and Phenotype.
- Published in:
- Movement Disorders, 2022, v. 37, n. 6, p. 1323, doi. 10.1002/mds.29034
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- Publication type:
- Article
A Critical Investigation of Cerebellar Associative Learning in Isolated Dystonia.
- Published in:
- Movement Disorders, 2022, v. 37, n. 6, p. 1187, doi. 10.1002/mds.28967
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- Publication type:
- Article
Cerebellar and Midbrain Lysosomal Enzyme Deficiency in Isolated Dystonia.
- Published in:
- Movement Disorders, 2022, v. 37, n. 4, p. 875, doi. 10.1002/mds.28937
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- Publication type:
- Article
Motor Cortical Network Excitability in Parkinson's Disease.
- Published in:
- Movement Disorders, 2022, v. 37, n. 4, p. 734, doi. 10.1002/mds.28914
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- Publication type:
- Article
Reply to: Juvenile PLA2G6‐parkinsonism due to Indian 'Asian' p.R741Q mutation, and response to STN DBS.
- Published in:
- Movement Disorders, 2022, v. 37, n. 3, p. 658, doi. 10.1002/mds.28955
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- Publication type:
- Article
Reply to: Comparing VUS and AUS: Parallels and Differences in Neurogenetics and Neuroimmunology.
- Published in:
- 2021
- By:
- Publication type:
- letter
The Emerging Role of Phosphodiesterases in Movement Disorders.
- Published in:
- 2021
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- Publication type:
- journal article
Reply to: "A Primary Writing Tremor Is a Form of Dystonic Tremor: Is the Debate Settled?".
- Published in:
- 2021
- By:
- Publication type:
- letter
"Antibody of Unknown Significance" (AUS): The Issue of Interpreting Antibody Test Results.
- Published in:
- Movement Disorders, 2021, v. 36, n. 7, p. 1543, doi. 10.1002/mds.28597
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- Publication type:
- Article
The Signature of Primary Writing Tremor Is Dystonic.
- Published in:
- Movement Disorders, 2021, v. 36, n. 7, p. 1715, doi. 10.1002/mds.28579
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- Publication type:
- Article
X‐Linked Parkinsonism: Phenotypic and Genetic Heterogeneity.
- Published in:
- Movement Disorders, 2021, v. 36, n. 7, p. 1511, doi. 10.1002/mds.28565
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- Publication type:
- Article
The Phenomenon of Exquisite Motor Control in Tic Disorders and its Pathophysiological Implications.
- Published in:
- Movement Disorders, 2021, v. 36, n. 6, p. 1308, doi. 10.1002/mds.28557
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- Publication type:
- Article
The Phenomenon of Exquisite Motor Control in Tic Disorders and its Pathophysiological Implications.
- Published in:
- Movement Disorders, 2021, v. 36, n. 6, p. 1308, doi. 10.1002/mds.28557
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- Publication type:
- Article
Defective Somatosensory Inhibition and Plasticity Are Not Required to Develop Dystonia.
- Published in:
- 2021
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- Publication type:
- journal article
Variability of Movement Disorders: The Influence of Sensation, Action, Cognition, and Emotions.
- Published in:
- Movement Disorders, 2021, v. 36, n. 3, p. 581, doi. 10.1002/mds.28415
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- Publication type:
- Article
Reversal of Temporal Discrimination in Cervical Dystonia after Low‐Frequency Sensory Stimulation.
- Published in:
- Movement Disorders, 2021, v. 36, n. 3, p. 761, doi. 10.1002/mds.28369
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- Publication type:
- Article
Telemedicine in Movement Disorders: Leçons du COVID‐19.
- Published in:
- Movement Disorders, 2020, v. 35, n. 11, p. 1893, doi. 10.1002/mds.28297
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- Publication type:
- Article
Reply to: "A New Day: The Role of Telemedicine in Reshaping Care for Persons With Movement Disorders".
- Published in:
- Movement Disorders, 2020, v. 35, n. 11, p. 1903, doi. 10.1002/mds.28315
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- Publication type:
- Article
Movement Disorders in the World of COVID-19.
- Published in:
- 2020
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- Publication type:
- editorial
The spectrum of involuntary vocalizations in humans: A video atlas.
- Published in:
- 2019
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- Publication type:
- journal article
Parkinsonism in essential tremor cases: A clinicopathological study-were they really essential tremor?
- Published in:
- 2019
- By:
- Publication type:
- letter
Twenty years on: Myoclonus-dystonia and ε-sarcoglycan - neurodevelopment, channel, and signaling dysfunction.
- Published in:
- 2019
- By:
- Publication type:
- journal article
How to apply the movement disorder society criteria for diagnosis of progressive supranuclear palsy.
- Published in:
- 2019
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- Publication type:
- journal article
The interindividual variability of transcranial magnetic stimulation effects: Implications for diagnostic use in movement disorders.
- Published in:
- 2019
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- Publication type:
- journal article
The use of transcranial magnetic stimulation as a treatment for movement disorders: A critical review.
- Published in:
- 2019
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- Publication type:
- journal article
Delineating the phenotype of autosomal-recessive HPCA mutations: Not only isolated dystonia!
- Published in:
- 2019
- By:
- Publication type:
- letter
Reply to: Young- onset multiple system atrophy.
- Published in:
- 2018
- By:
- Publication type:
- letter
PDE10A and ADCY5 mutations linked to molecular and microstructural basal ganglia pathology.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Delineating cerebellar mechanisms in DYT11 myoclonus-dystonia.
- Published in:
- 2018
- By:
- Publication type:
- journal article
High frequency somatosensory stimulation in dystonia: Evidence fordefective inhibitory plasticity.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Motor cortical excitability during voluntary inhibition of involuntary tic movements.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Understanding the new tremor classification.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Reply: "Reappraisal of cortical myoclonus: Electrophysiology is the gold standard".
- Published in:
- 2018
- By:
- Publication type:
- letter
Young-onset multiple system atrophy: Clinical and pathological features.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Cerebellar and brainstem functional abnormalities in patients with primary orthostatic tremor.
- Published in:
- 2018
- By:
- Publication type:
- letter