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A novel spot mutation leading to sialidosis type 1-myoclonus syndrome and optical coherence tomography findings.
- Published in:
- Arquivos Brasileiros de Oftalmologia, 2024, v. 87, n. 5, p. 1, doi. 10.5935/0004-2749.2022-0069
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- Publication type:
- Article
Novel copy number variations and phenotypes of infantile epileptic spasms syndrome.
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- Clinical Genetics, 2024, v. 106, n. 2, p. 161, doi. 10.1111/cge.14520
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- Publication type:
- Article
Adult-onset idiopathic opsoclonus-myoclonus syndrome.
- Published in:
- Arquivos Brasileiros de Oftalmologia, 2024, v. 87, n. 4, p. 1, doi. 10.5935/0004-2749.2022-0024
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- Publication type:
- Article
Myoclonus Associated with Mirtazapine.
- Published in:
- 2024
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- Publication type:
- Letter
Clinical features, pathogenesis, pathology, neuroimaging, clinical course and outcome of measles inclusion-body encephalitis: a systematic review of published case reports and case series.
- Published in:
- Neurological Sciences, 2024, v. 45, n. 7, p. 3069, doi. 10.1007/s10072-024-07480-1
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- Publication type:
- Article
Opsoclonus-Myoclonus-Ataxia Syndrome Due to Covid-19.
- Published in:
- 2024
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- Publication type:
- Case Study
Pallidal deep brain stimulation for patients with myoclonus-dystonia without SGCE mutations.
- Published in:
- Journal of Neurology, 2024, v. 271, n. 6, p. 2948, doi. 10.1007/s00415-024-12334-z
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- Publication type:
- Article
Use of levetiracetam for the successful treatment of suspected myoclonic seizures: five dogs (2016‐2022).
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- Journal of Small Animal Practice, 2024, v. 65, n. 6, p. 402, doi. 10.1111/jsap.13719
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- Publication type:
- Article
A Case of Chorea with Slow Saccades Caused by NKX2‐1 Mutation.
- Published in:
- Movement Disorders Clinical Practice, 2024, v. 11, n. 6, p. 738, doi. 10.1002/mdc3.14013
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- Publication type:
- Article
Myoclonus improvement after seizures in progressive myoclonic epilepsy type 7: a case report.
- Published in:
- 2024
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- Publication type:
- Case Study
Sporadic Creutzfeldt-Jakob disease in adults over 80 years: a 10-year review of United Kingdom surveillance.
- Published in:
- Age & Ageing, 2024, v. 53, n. 5, p. 1, doi. 10.1093/ageing/afae086
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- Publication type:
- Article
Mitochondrial diabetes plus phenotypes due to the m.3243A > G variant require correlation with heteroplasmy rates.
- Published in:
- Clinical Case Reports, 2024, v. 12, n. 5, p. 1, doi. 10.1002/ccr3.8862
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- Publication type:
- Article
Clinical and molecular characterization of patients with YWHAG‐related epilepsy.
- Published in:
- Epilepsia (Series 4), 2024, v. 65, n. 5, p. 1439, doi. 10.1111/epi.17939
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- Publication type:
- Article
A 24% prevalence of excessive fragmentary myoclonus in 500 consecutive sleep laboratory patients.
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- Journal of Sleep Research, 2024, v. 33, n. 3, p. 1, doi. 10.1111/jsr.14074
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- Publication type:
- Article
Changes in cerebellar output abnormally modulate cortical myoclonus sensorimotor hyperexcitability.
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- Brain: A Journal of Neurology, 2024, v. 147, n. 4, p. 1412, doi. 10.1093/brain/awad384
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- Publication type:
- Article
Expanding the Spectrum of Stress-Induced Childhood-Onset Neurodegeneration with Variable Ataxia and Seizures (CONDSIAS).
- Published in:
- 2024
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- Publication type:
- Case Study
Neurophysiological Analysis of Cortical Myoclonic Tremor and Excessive Startle in ARHGEF9 Deficiency.
- Published in:
- Movement Disorders Clinical Practice, 2024, v. 11, n. 4, p. 434, doi. 10.1002/mdc3.13986
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- Publication type:
- Article
Persistent Paradoxical Reaction to Midazolam despite General Anesthesia with Dexmedetomidine.
- Published in:
- 2024
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- Publication type:
- Case Study
ATP6V0C Is Associated With Febrile Seizures and Epilepsy With Febrile Seizures Plus.
- Published in:
- Frontiers in Molecular Neuroscience, 2024, p. 1, doi. 10.3389/fnmol.2022.889534
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- Publication type:
- Article
Similarities and Differences in Functional Movement Disorders and Functional Seizures at a Tertiary Care Center: A Prospective Study.
- Published in:
- Annals of Indian Academy of Neurology, 2024, v. 27, n. 2, p. 172, doi. 10.4103/aian.aian_893_23
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- Publication type:
- Article
Cortical Reflex Myoclonus in a Patient with Hyperammonemic Encephalopathy.
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- Balkan Medical Journal, 2024, v. 41, n. 2, p. 145, doi. 10.4274/balkanmedj.galenos.2023.2023-9-96
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- Publication type:
- Article
Association of abnormal explicit sense of agency with cerebellar impairment in myoclonus-dystonia.
- Published in:
- Brain Communications, 2024, v. 6, n. 2, p. 1, doi. 10.1093/braincomms/fcae105
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- Publication type:
- Article
KCTD7‐related progressive myoclonic epilepsy: Report of 42 cases and review of literature.
- Published in:
- Epilepsia (Series 4), 2024, v. 65, n. 3, p. 709, doi. 10.1111/epi.17880
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- Publication type:
- Article
Brain Volumes in Opsoclonus-Myoclonus Ataxia Syndrome: A Longitudinal Study.
- Published in:
- Journal of Child Neurology, 2024, v. 39, n. 3/4, p. 129, doi. 10.1177/08830738241240181
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- Publication type:
- Article
Flapping Tremor: Unraveling Asterixis—A Narrative Review.
- Published in:
- Medicina (1010660X), 2024, v. 60, n. 3, p. 362, doi. 10.3390/medicina60030362
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- Publication type:
- Article
Myoclonus in CASPR2 Autoimmune Encephalitis: A Distinctive Association.
- Published in:
- Movement Disorders Clinical Practice, 2024, v. 11, n. 3, p. 298, doi. 10.1002/mdc3.13936
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- Publication type:
- Article
Clinical and electroencephalogram characteristics of methylmalonic acidemia with MMACHC and MUT gene mutations.
- Published in:
- BMC Pediatrics, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12887-024-04559-8
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- Publication type:
- Article
Overuse of EEG and ECG in children with breath‐holding spells and its implication for the management of the spells.
- Published in:
- Acta Paediatrica, 2024, v. 113, n. 2, p. 317, doi. 10.1111/apa.17020
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- Publication type:
- Article
Progressive Myoclonus Epilepsy: A Scoping Review of Diagnostic, Phenotypic and Therapeutic Advances.
- Published in:
- Genes, 2024, v. 15, n. 2, p. 171, doi. 10.3390/genes15020171
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- Publication type:
- Article
The Myriad Presentations of Tetanus: Where Do You Look for Clinical Clues in an Intubated Highly Sedated Patient?
- Published in:
- Movement Disorders Clinical Practice, 2024, v. 11, n. 2, p. 175, doi. 10.1002/mdc3.13935
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- Publication type:
- Article
Functional propriospinal myoclonus in neuroleptic malignant syndrome.
- Published in:
- Neurological Sciences, 2024, v. 45, n. 2, p. 803, doi. 10.1007/s10072-023-07085-0
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- Publication type:
- Article
Effect of dietary supplementation with Lactobacillus helveticus R0052 on seizure thresholds and antiseizure potency of sodium valproate in mice.
- Published in:
- Psychopharmacology, 2024, v. 241, n. 2, p. 327, doi. 10.1007/s00213-023-06489-2
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- Publication type:
- Article
DLG3 variants caused X-linked epilepsy with/without neurodevelopmental disorders and the genotype-phenotype correlation.
- Published in:
- Frontiers in Molecular Neuroscience, 2024, p. 01, doi. 10.3389/fnmol.2023.1290919
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- Publication type:
- Article
The Roles of Cystatin B in the Brain and Pathophysiological Mechanisms of Progressive Myoclonic Epilepsy Type 1.
- Published in:
- Cells (2073-4409), 2024, v. 13, n. 2, p. 170, doi. 10.3390/cells13020170
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- Publication type:
- Article
In depth behavioral phenotyping unravels complex motor disturbances in Cstb<sup>−/−</sup> mouse, a model for progressive myoclonus epilepsy type 1.
- Published in:
- Frontiers in Behavioral Neuroscience, 2024, p. 1, doi. 10.3389/fnbeh.2023.1325051
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- Publication type:
- Article
Negative myoclonus as a manifestation of cefepime neurotoxicity.
- Published in:
- 2024
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- Publication type:
- Case Study
Tacrolimus-Induced Focal Myoclonus of Unilateral Hand in a Kidney Transplant Recipient.
- Published in:
- Indian Journal of Nephrology, 2024, v. 34, n. 1, p. 93, doi. 10.4103/ijn.ijn_146_23
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- Publication type:
- Article
Scrub typhus with opsoclonus-myoclonus-ataxia-seizure as primary presentations.
- Published in:
- Journal of Neurosciences in Rural Practice, 2024, n. 1, p. 143, doi. 10.25259/JNRP_314_2023
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- Publication type:
- Article
Essential Palatal Myoclonus and Clicking Tinnitus in a Nine‐Year‐Old Boy—A Case Report.
- Published in:
- Laryngoscope, 2024, v. 134, n. 1, p. 397, doi. 10.1002/lary.30734
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- Publication type:
- Article
Addition of Vitamin C Does Not Decrease Neuron-Specific Enolase Levels in Adult Survivors of Cardiac Arrest—Results of a Randomized Trial.
- Published in:
- Medicina (1010660X), 2024, v. 60, n. 1, p. 103, doi. 10.3390/medicina60010103
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- Publication type:
- Article
"Progressive myoclonic ataxia and developmental/epileptic encephalopathy associated with a novel homozygous mutation in TCN2 gene".
- Published in:
- 2024
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- Publication type:
- Case Study
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
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
Neuropsychiatric Presentation of Anti‐DPPX Progressive Encephalomyelitis with Rigidity and Myoclonus.
- Published in:
- Movement Disorders Clinical Practice, 2024, v. 11, n. 1, p. 97, doi. 10.1002/mdc3.13928
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- Publication type:
- Article
Recent advances in benign adult familial myoclonus epilepsy.
- Published in:
- Neurology & Clinical Neuroscience, 2024, v. 12, n. 1, p. 29, doi. 10.1111/ncn3.12685
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- Publication type:
- Article
A prospective randomized controlled study to compare effectiveness of dexmedetomidine and lignocaine pre-treatment for prevention of etomidate induced myoclonus.
- Published in:
- Journal of Cardiovascular Disease Research (Journal of Cardiovascular Disease Research), 2023, v. 14, n. 10, p. 321
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- Publication type:
- Article
Corticobasal syndrome mimicking Foix-Chavany-Marie syndrome with suggested 4-repeat tauopathy by tau PET.
- Published in:
- 2023
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- Publication type:
- Case Study
Epidemiological and clinical characteristics of functional movement disorder based on movement disorders clinic.
- Published in:
- Chinese Journal of Contemporary Neurology & Neurosurgery, 2023, v. 23, n. 12, p. 1103, doi. 10.3969/j.issn.1672-6731.2023.12.009
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- Publication type:
- Article
Auricular myoclonus associated with intra‐abdominal botryomycosis in a dog.
- Published in:
- Journal of Small Animal Practice, 2023, v. 64, n. 12, p. 806, doi. 10.1111/jsap.13658
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- Publication type:
- Article
Diagnosis and treatment of functional myoclonus.
- Published in:
- Chinese Journal of Contemporary Neurology & Neurosurgery, 2023, v. 23, n. 11, p. 1026, doi. 10.3969/j.issn.1672-6731.2023.11.011
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- Publication type:
- Article