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Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single-center cohort study.
- Published in:
- 2019
- By:
- Publication type:
- journal article
A PDE10A de novo mutation causes childhood-onset chorea with diurnal fluctuations.
- Published in:
- 2017
- By:
- Publication type:
- case study
Clinical rating scale for pantothenate kinase-associated neurodegeneration: A pilot study.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Protein-redistribution diet in a case of tyrosine hydroxylase enzyme deficiency.
- Published in:
- 2017
- By:
- Publication type:
- case study
Phenomenology of psychogenic movement disorders in children.
- Published in:
- Movement Disorders, 2012, v. 27, n. 9, p. 1153, doi. 10.1002/mds.24947
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- Publication type:
- Article
Status dystonicus: Predictors of outcome and progression patterns of underlying disease.
- Published in:
- Movement Disorders, 2012, v. 27, n. 6, p. 783, doi. 10.1002/mds.24981
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- Publication type:
- Article
Iron-related MRI images in patients with pantothenate kinase-associated neurodegeneration (PKAN) treated with deferiprone: Results of a phase II pilot trial.
- Published in:
- Movement Disorders, 2011, v. 26, n. 9, p. 1755, doi. 10.1002/mds.23751
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- Publication type:
- Article
Mutation screening of the DYT6/ THAP1 gene in Italy.
- Published in:
- Movement Disorders, 2009, v. 24, n. 16, p. 2424, doi. 10.1002/mds.22861
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- Publication type:
- Article
A neurophysiological study of myoclonus in patients with DYT11 myoclonus-dystonia syndrome.
- Published in:
- Movement Disorders, 2008, v. 23, n. 14, p. 2041, doi. 10.1002/mds.22256
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- Publication type:
- Article
Myoclonus-dystonia syndrome: Clinical presentation, disease course, and genetic features in 11 families.
- Published in:
- Movement Disorders, 2008, v. 23, n. 1, p. 28, doi. 10.1002/mds.21715
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- Publication type:
- Article
Non-DYT1 early-onset primary torsion dystonia: comparison with DYT1 phenotype and review of the literature.
- Published in:
- 2006
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- Publication type:
- journal article
Stimulation of the globus pallidus internus for childhood-onset dystonia.
- Published in:
- Movement Disorders, 2005, v. 20, n. 9, p. 1194, doi. 10.1002/mds.20510
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- Publication type:
- Article
Frequency of DYT1 mutation in early onset primary dystonia in Italian patients.
- Published in:
- Movement Disorders, 2002, v. 17, n. 2, p. 407, doi. 10.1002/mds.10045
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- Publication type:
- Article
Bilateral striatal necrosis associated with Mycoplasma pneumoniae infection in an adolescent: clinical and neuroradiologic follow up.
- Published in:
- 2000
- By:
- Publication type:
- journal article
Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients.
- Published in:
- Neurogenetics, 2011, v. 12, n. 3, p. 193, doi. 10.1007/s10048-011-0281-x
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- Publication type:
- Article
Neurological Disorders Associated with Striatal Lesions: Classification and Diagnostic Approach.
- Published in:
- Current Neurology & Neuroscience Reports, 2016, v. 16, n. 6, p. 1, doi. 10.1007/s11910-016-0656-3
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- Publication type:
- Article
Variants in ATP5F1B are associated with dominantly inherited dystonia.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 7, p. 2730, doi. 10.1093/brain/awad068
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- Publication type:
- Article
Loss‐of‐Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities.
- Published in:
- Annals of Neurology, 2020, v. 88, n. 5, p. 867, doi. 10.1002/ana.25879
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- Publication type:
- Article
Dominant VPS16 Pathogenic Variants: Not Only Isolated Dystonia.
- Published in:
- Movement Disorders Clinical Practice, 2024, v. 11, n. 1, p. 87, doi. 10.1002/mdc3.13927
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- Publication type:
- Article
Focal Dystonic Tremor as a Prominent Feature in a Child with a CACNA1A‐Related Disorder.
- Published in:
- Movement Disorders Clinical Practice, 2023, v. 10, n. 10, p. 1554, doi. 10.1002/mdc3.13854
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- Publication type:
- Article
Two Cases of TMEM151A‐Associated Paroxysmal Dyskinesia in a Single‐Center Series of PRRT2‐Negative Patients.
- Published in:
- Movement Disorders Clinical Practice, 2023, v. 10, n. 5, p. 842, doi. 10.1002/mdc3.13705
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- Publication type:
- Article
Substantia Nigra Swelling and Dentate Nucleus T2 Hyperintensity May Be Early Magnetic Resonance Imaging Signs of β‐Propeller Protein‐Associated Neurodegeneration.
- Published in:
- Movement Disorders Clinical Practice, 2019, v. 6, n. 1, p. 51, doi. 10.1002/mdc3.12693
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- Publication type:
- Article
Corrigendum: PLA2G6, encoding a phospholipase A<sub>2</sub>, is mutated in neurodegenerative disorders with high brain iron.
- Published in:
- 2006
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- Publication type:
- Correction notice
PLA2G6, encoding a phospholipase A<sub>2</sub>, is mutated in neurodegenerative disorders with high brain iron.
- Published in:
- Nature Genetics, 2006, v. 38, n. 7, p. 752, doi. 10.1038/ng1826
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- Publication type:
- Article
Reduced nitric oxide metabolites in CSF of patients with tetrahydrobiopterin deficiency.
- Published in:
- Journal of Neurochemistry, 2002, v. 80, n. 2, p. 362, doi. 10.1046/j.0022-3042.2001.00710.x
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- Publication type:
- Article
Deep Brain Stimulation Electrode Used for Radiofrequency Lesion of the Globus Pallidus Internus in Dystonia.
- Published in:
- Stereotactic & Functional Neurosurgery, 2009, v. 87, n. 6, p. 348, doi. 10.1159/000236368
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- Publication type:
- Article
The noncoding RNA AK127244 in 2p16.3 locus: A new susceptibility region for neuropsychiatric disorders.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2018, v. 177, n. 6, p. 557, doi. 10.1002/ajmg.b.32649
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- Publication type:
- Article
The effect of GPi-DBS assessed by gait analysis in DYT11 dystonia: a case study.
- Published in:
- Neurological Sciences, 2024, v. 45, n. 1, p. 335, doi. 10.1007/s10072-023-07063-6
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- Publication type:
- Article
Correction to: Kearns‑Sayre syndrome: expanding spectrum of a "novel" mitochondrial leukomyeloencephalopathy.
- Published in:
- 2022
- By:
- Publication type:
- Correction Notice
Kearns-Sayre syndrome: expanding spectrum of a "novel" mitochondrial leukomyeloencephalopathy.
- Published in:
- Neurological Sciences, 2022, v. 43, n. 3, p. 2081, doi. 10.1007/s10072-022-05881-8
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- Publication type:
- Article
Status dystonicus induced by deep brain stimulation surgery.
- Published in:
- 2020
- By:
- Publication type:
- case study
Targeting the brain: considerations in 332 consecutive patients treated by deep brain stimulation (DBS) for severe neurological diseases.
- Published in:
- Neurological Sciences, 2012, v. 33, n. 6, p. 1285, doi. 10.1007/s10072-012-0937-9
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- Publication type:
- Article
Childhood-onset HAM/TSP with progressive cognitive impairment.
- Published in:
- Neurological Sciences, 2010, v. 31, n. 2, p. 209, doi. 10.1007/s10072-009-0204-x
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- Publication type:
- Article
SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-123
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- Publication type:
- Article
SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Error-enhancing robot therapy to induce motor control improvement in childhood onset primary dystonia.
- Published in:
- Journal of NeuroEngineering & Rehabilitation (JNER), 2012, v. 9, n. 1, p. 46, doi. 10.1186/1743-0003-9-46
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- Publication type:
- Article
Deep brain stimulation in critical care conditions.
- Published in:
- Journal of Neural Transmission, 2014, v. 121, n. 4, p. 391, doi. 10.1007/s00702-013-1122-x
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- Publication type:
- Article
Morphological and chemical analysis of a deep brain stimulation electrode explanted from a dystonic patient.
- Published in:
- Journal of Neural Transmission, 2013, v. 120, n. 10, p. 1425, doi. 10.1007/s00702-013-1017-x
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- Publication type:
- Article
Deep brain stimulation for movement disorders. Considerations on 276 consecutive patients.
- Published in:
- Journal of Neural Transmission, 2011, v. 118, n. 10, p. 1497, doi. 10.1007/s00702-011-0656-z
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- Publication type:
- Article
β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation.
- Published in:
- Brain: A Journal of Neurology, 2013, v. 136, n. 6, p. 1708, doi. 10.1093/brain/awt095
- By:
- Publication type:
- Article
Paroxysmal non-epileptic motor events in childhood: a clinical and video-EEG-polymyographic study.
- Published in:
- Developmental Medicine & Child Neurology, 2012, v. 54, n. 4, p. 334, doi. 10.1111/j.1469-8749.2011.04217.x
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- Publication type:
- Article
Bilateral Simultaneous Magnetic Resonance–Guided Focused Ultrasound Pallidotomy for Life‐Threatening Status Dystonicus.
- Published in:
- Movement Disorders, 2024, v. 39, n. 8, p. 1408, doi. 10.1002/mds.29811
- By:
- Publication type:
- Article
Long‐Term Globus Pallidus Internus Deep Brain Stimulation in Pediatric Non‐Degenerative Dystonia: A Cohort Study and a Meta‐Analysis.
- Published in:
- Movement Disorders, 2024, v. 39, n. 7, p. 1131, doi. 10.1002/mds.29815
- By:
- Publication type:
- Article
Childhood-Onset Lower Limb Focal Dystonia Due to a NAA15 Variant: A Case Report.
- Published in:
- Movement Disorders, 2024, v. 39, n. 4, p. 747, doi. 10.1002/mds.29732
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- Publication type:
- Article
Reply to: "Heterogeneous Phenotypic Evolution in ANO3‐Related Dystonia Due to the Recurrent p.Glu510Lys Variant".
- Published in:
- Movement Disorders, 2024, v. 39, n. 3, p. 632, doi. 10.1002/mds.29733
- By:
- Publication type:
- Article
ANO3 as a Cause of Early‐Onset Chorea Combined with Dystonia: Illustration of Phenotypic Evolution.
- Published in:
- Movement Disorders, 2024, v. 39, n. 1, p. 220, doi. 10.1002/mds.29672
- By:
- Publication type:
- Article
THAP1 Dystonia with Globus Pallidus T2 Hypointensity: A Report of Two Cases.
- Published in:
- Movement Disorders, 2021, v. 36, n. 6, p. 1463, doi. 10.1002/mds.28555
- By:
- Publication type:
- Article
YY1‐Related Dystonia: Clinical Aspects and Long‐Term Response to Deep Brain Stimulation.
- Published in:
- Movement Disorders, 2021, v. 36, n. 6, p. 1461, doi. 10.1002/mds.28547
- By:
- Publication type:
- Article
THAP1 Dystonia with Globus Pallidus T2 Hypointensity: A Report of Two Cases.
- Published in:
- Movement Disorders, 2021, v. 36, n. 6, p. 1463, doi. 10.1002/mds.28555
- By:
- Publication type:
- Article