Found: 47
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DHDDS and NUS1: A Converging Pathway and Common Phenotype.
- Published in:
- Movement Disorders Clinical Practice, 2024, v. 11, n. 1, p. 76, doi. 10.1002/mdc3.13920
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- Publication type:
- Article
Oculomotor Apraxia as an Early Presenting Sign of Juvenile‐Onset Huntington's Disease.
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- Movement Disorders Clinical Practice, 2023, v. 10, p. S12, doi. 10.1002/mdc3.13775
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- Publication type:
- Article
Levodopa Responsive Dystonia Parkinsonism, Intellectual Disability, and Optic Atrophy Due to a Heterozygous Missense Variant in AFG3L2.
- Published in:
- Movement Disorders Clinical Practice, 2022, v. 9, p. S32, doi. 10.1002/mdc3.13538
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- Publication type:
- Article
Levodopa Responsive Dystonia Parkinsonism, Intellectual Disability, and Optic Atrophy Due to a Heterozygous Missense Variant in AFG3L2.
- Published in:
- Movement Disorders Clinical Practice, 2022, v. 9, p. S32, doi. 10.1002/mdc3.13538
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- Publication type:
- Article
Possible EIF2AK2‐Associated Stress‐Related Neurological Decompensation with Combined Dystonia and Striatal Lesions.
- Published in:
- Movement Disorders Clinical Practice, 2022, v. 9, n. 2, p. 240, doi. 10.1002/mdc3.13384
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- Publication type:
- Article
Balamuthia mandrillaris Encephalitis: Survival of a Child With Severe Meningoencephalitis and Review of the Literature.
- Published in:
- Journal of the Pediatric Infectious Diseases Society, 2014, v. 3, n. 1, p. e4, doi. 10.1093/jpids/pit033
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- Publication type:
- Article
Postinfectious Acute Cerebellar Syndromes in Children: A Nationally Ascertained Case Series From Australia 2013–2018.
- Published in:
- Journal of Child Neurology, 2022, v. 37, n. 7, p. 617, doi. 10.1177/08830738221093209
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- Publication type:
- Article
Clinical and neuroimaging phenotypes of genetic parkinsonism from infancy to adolescence.
- Published in:
- 2020
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- Publication type:
- journal article
Postencephalitic epilepsy and drug-resistant epilepsy after infectious and antibody-associated encephalitis in childhood: Clinical and etiologic risk factors.
- Published in:
- Epilepsia (Series 4), 2016, v. 57, n. 1, p. e7, doi. 10.1111/epi.13253
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- Publication type:
- Article
Autoimmune Encephalitis in Children: An Update.
- Published in:
- Indian Pediatrics, 2020, v. 57, n. 7, p. 662, doi. 10.1007/s13312-020-1896-5
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- Publication type:
- Article
Maternal acute and chronic inflammation in pregnancy is associated with common neurodevelopmental disorders: a systematic review.
- Published in:
- Translational Psychiatry, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41398-021-01198-w
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- Publication type:
- Article
Editorial: Movement disorders in neurometabolic conditions.
- Published in:
- Frontiers in Neurology, 2024, p. 1, doi. 10.3389/fneur.2024.1397998
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- Publication type:
- Article
Glucose transporter 1 deficiency syndrome and hemiplegic migraines as a dominant presenting clinical feature.
- Published in:
- 2014
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- Publication type:
- Other
Blood CRP levels are elevated in children and adolescents with functional neurological symptom disorder.
- Published in:
- European Child & Adolescent Psychiatry, 2019, v. 28, n. 4, p. 491, doi. 10.1007/s00787-018-1212-2
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- Publication type:
- Article
Magnetic resonance imaging in enterovirus-71, myelin oligodendrocyte glycoprotein antibody, aquaporin-4 antibody, and multiple sclerosis-associated myelitis in children.
- Published in:
- 2019
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- Publication type:
- journal article
Maternal thyroid autoimmunity associated with acute-onset neuropsychiatric disorders and global regression in offspring.
- Published in:
- 2019
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- Publication type:
- journal article
High sensitivity and specificity in proposed clinical diagnostic criteria for anti-N-methyl-D-aspartate receptor encephalitis.
- Published in:
- 2017
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- Publication type:
- journal article
Cerebrospinal fluid cyto-/chemokine profile during acute herpes simplex virus induced anti-N-methyl-d-aspartate receptor encephalitis and in chronic neurological sequelae.
- Published in:
- 2017
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- Publication type:
- journal article
Herpes simplex virus-induced anti-N-methyl-d-aspartate receptor encephalitis: a systematic literature review with analysis of 43 cases.
- Published in:
- 2017
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- Publication type:
- journal article
Anti-N-methyl-d-aspartate receptor encephalitis in Māori and Pacific Island children in New Zealand.
- Published in:
- 2017
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- Publication type:
- journal article
The neuropsychological profile of children with basal ganglia encephalitis: a case series.
- Published in:
- 2017
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- Publication type:
- Case Study
Intravenous immunoglobulin in paediatric neurology: safety, adherence to guidelines, and long-term outcome.
- Published in:
- 2016
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- Publication type:
- journal article
Symptomatic treatment of children with anti-NMDAR encephalitis.
- Published in:
- 2016
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- Publication type:
- journal article
'High hopes for treatment': Australian stakeholder perspectives of the clinical translation of advanced neurotherapeutics for rare neurological diseases.
- Published in:
- Health Expectations, 2024, v. 27, n. 3, p. 1, doi. 10.1111/hex.14063
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- Publication type:
- Article
Acute encephalopathy with biphasic seizures and restricted diffusion.
- Published in:
- Journal of Paediatrics & Child Health, 2022, v. 58, n. 9, p. 1688, doi. 10.1111/jpc.15981
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- Publication type:
- Article
Rapid onset functional tic‐like behaviours in children and adolescents during COVID‐19: Clinical features, assessment and biopsychosocial treatment approach.
- Published in:
- Journal of Paediatrics & Child Health, 2022, v. 58, n. 7, p. 1181, doi. 10.1111/jpc.15932
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- Publication type:
- Article
Intravenous immunoglobulin in acute Sydenham's chorea: A systematic review.
- Published in:
- 2015
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- Publication type:
- journal article
Clinical Characteristics and Functional Motor Outcomes of Enterovirus 71 Neurological Disease in Children.
- Published in:
- JAMA Neurology, 2016, v. 73, n. 3, p. 300, doi. 10.1001/jamaneurol.2015.4388
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- Publication type:
- Article
CSF neopterin and quinolinic acid are biomarkers of neuroinflammation and neurotoxicity in FIRES and other infection‐triggered encephalopathy syndromes.
- Published in:
- Annals of Clinical & Translational Neurology, 2023, v. 10, n. 8, p. 1417, doi. 10.1002/acn3.51832
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- Publication type:
- Article
Unusual Manifestations of APECED.
- Published in:
- 2024
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- Publication type:
- Letter
Clinical features associated with epilepsy occurrence, resolution, and drug resistance in children with cerebral palsy: A population‐based study.
- Published in:
- Developmental Medicine & Child Neurology, 2024, v. 66, n. 6, p. 793, doi. 10.1111/dmcn.15807
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- Publication type:
- Article
Cerebrospinal fluid neopterin as a biomarker of treatment response to Janus kinase inhibition in Aicardi–Goutières syndrome.
- Published in:
- Developmental Medicine & Child Neurology, 2022, v. 64, n. 2, p. 266, doi. 10.1111/dmcn.15025
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- Publication type:
- Article
Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformations.
- Published in:
- Brain Communications, 2024, v. 6, n. 2, p. 1, doi. 10.1093/braincomms/fcae056
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- Publication type:
- Article
Utility of CSF Cytokine/Chemokines as Markers of Active Intrathecal Inflammation: Comparison of Demyelinating, Anti-NMDAR and Enteroviral Encephalitis.
- Published in:
- PLoS ONE, 2016, v. 11, n. 8, p. 1, doi. 10.1371/journal.pone.0161656
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- Publication type:
- Article
The Genetic Landscape of Complex Childhood‐Onset Hyperkinetic Movement Disorders.
- Published in:
- Movement Disorders, 2022, v. 37, n. 11, p. 2197, doi. 10.1002/mds.29182
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- Publication type:
- Article
Efficacy of Caffeine in ADCY5‐Related Dyskinesia: A Retrospective Study.
- Published in:
- Movement Disorders, 2022, v. 37, n. 6, p. 1294, doi. 10.1002/mds.29006
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- Publication type:
- Article
BCAS3‐Related Neurodevelopmental Disorder Shows Magnetic Resonance Imaging Features Resembling Brain Iron Accumulation.
- Published in:
- Movement Disorders, 2022, v. 37, n. 4, p. 870, doi. 10.1002/mds.28915
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- Publication type:
- Article
Sensory dysregulation in tic disorders is associated with executive dysfunction and comorbidities.
- Published in:
- 2019
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- Publication type:
- journal article
Myoclonus-dystonia caused by GNB1 mutation responsive to deep brain stimulation.
- Published in:
- 2019
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- Publication type:
- Case Study
Current therapies and therapeutic decision making for childhood-onset movement disorders.
- Published in:
- 2019
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- Publication type:
- journal article
Pro‐inflammatory dopamine‐2 receptor‐specific T cells in paediatric movement and psychiatric disorders.
- Published in:
- Clinical & Translational Immunology, 2020, v. 9, n. 12, p. 1, doi. 10.1002/cti2.1229
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- Publication type:
- Article
Genetic Links to Episodic Movement Disorders: Current Insights.
- Published in:
- Application of Clinical Genetics, 2023, v. 16, p. 11, doi. 10.2147/TACG.S363485
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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
Beta-propeller-associated neurodegeneration can present with dominant or isolated parkinsonism.
- Published in:
- 2018
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- Publication type:
- Letter
Movement disorders in children with anti-NMDAR encephalitis and other autoimmune encephalopathies.
- Published in:
- Movement Disorders, 2014, v. 29, n. 12, p. 1539, doi. 10.1002/mds.25999
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- Publication type:
- Article
Herpes simplex encephalitis relapse with chorea is associated with autoantibodies to N-Methyl-D-aspartate receptor or dopamine-2 receptor.
- Published in:
- 2014
- By:
- Publication type:
- Journal Article
Herpes simplex encephalitis relapse with chorea is associated with autoantibodies to N-Methyl- D-aspartate receptor or dopamine-2 receptor.
- Published in:
- Movement Disorders, 2014, v. 29, n. 1, p. 117, doi. 10.1002/mds.25623
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- Publication type:
- Article