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Myoclonus in Creutzfeldt-Jakob disease: Polygraphic and video-electroencephalography assessment of 109 patients.
- Published in:
- Movement Disorders, 2010, v. 25, n. 16, p. 2818, doi. 10.1002/mds.23397
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- Article
A neurophysiological study of myoclonus in patients with DYT11 myoclonus-dystonia syndrome.
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- Movement Disorders, 2008, v. 23, n. 14, p. 2041, doi. 10.1002/mds.22256
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- Article
Rhythmic cortical myoclonus in Niemann-Pick disease type C.
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- Movement Disorders, 2006, v. 21, n. 9, p. 1453, doi. 10.1002/mds.20984
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- Article
Rhythmic cortical myoclonus in a case of HIV-related encephalopathy.
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- Movement Disorders, 2003, v. 18, n. 12, p. 1533, doi. 10.1002/mds.10584
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- Article
Desferrioxamine Infusion Can Modify EEG Tracing in Haemodialysed Patients.
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- Nephrology Dialysis Transplantation, 1991, v. 6, n. 4, p. 264
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- Article
Entropy Metrics Correlating with Higher Residual Functioning in Patients with Chronic Disorders of Consciousness.
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- Brain Sciences (2076-3425), 2022, v. 12, n. 3, p. 332, doi. 10.3390/brainsci12030332
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- Article
The neural correlates of lexical processing in disorders of consciousness.
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- 2017
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- Publication type:
- journal article
Simultaneous EEG-fMRI in Patients with Unverricht-Lundborg Disease: Event-Related Desynchronization/Synchronization and Hemodynamic Response Analysis.
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- Computational Intelligence & Neuroscience, 2010, p. 1, doi. 10.1155/2010/164278
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- Article
Recessive Loss-of-Function Mutation in the Pacemaker HCN2 Channel Causing Increased Neuronal Excitability in a Patient with Idiopathic Generalized Epilepsy.
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- Journal of Neuroscience, 2011, v. 31, n. 48, p. 17327, doi. 10.1523/JNEUROSCI.3727-11.2011
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- Article
Self-Limited Hyperexcitability: Functional Effect of a Familial Hemiplegic Migraine Mutation of the Na<sub>v</sub>1.1 (SCN1A) Na<sup>+</sup> Channel.
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- Journal of Neuroscience, 2008, v. 28, n. 29, p. 7273, doi. 10.1523/JNEUROSCI.4453-07.2008
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- Article
Modulatory Proteins Can Rescue a Trafficking Defective Epileptogenic Na<sub>v</sub>1.1<sup>+</sup> Na Channel Mutant.
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- Journal of Neuroscience, 2007, v. 27, n. 41, p. 11037, doi. 10.1523/JNEUROSCI.3515-07.2007
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- Publication type:
- Article
The network sustaining action myoclonus: a MEG-EMG study in patients with EPM1.
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- BMC Neurology, 2016, v. 16, p. 1, doi. 10.1186/s12883-016-0738-5
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- Article
Functional MRI in Malformations of Cortical Development: Activation of Dysplastic Tissue and Functional Reorganization.
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- Journal of Neuroimaging, 2008, v. 18, n. 3, p. 296, doi. 10.1111/j.1552-6569.2007.00164.x
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- Article
DNA damage and transcriptional regulation in iPSC-derived neurons from Ataxia Telangiectasia patients.
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- Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-018-36912-0
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- Publication type:
- Article
Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis.
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- Human Molecular Genetics, 2013, v. 22, n. 7, p. 1417, doi. 10.1093/hmg/dds558
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- Publication type:
- Article
A Loss-of-Function HCN4 Mutation Associated With Familial Benign Myoclonic Epilepsy in Infancy Causes Increased Neuronal Excitability.
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- Frontiers in Molecular Neuroscience, 2018, p. N.PAG, doi. 10.3389/fnmol.2018.00269
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- Article
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.
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- 2022
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- Publication type:
- journal article
Early-onset phenotype of bi-allelic GRN mutations.
- Published in:
- 2021
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- Publication type:
- letter
Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K<sup>+</sup> channel properties.
- Published in:
- 2017
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- Publication type:
- journal article
Kv7.3 Compound Heterozygous Variants in Early Onset Encephalopathy Reveal Additive Contribution of C-Terminal Residues to PIP<sub>2</sub>-Dependent K<sup>+</sup> Channel Gating.
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- Molecular Neurobiology, 2018, v. 55, n. 8, p. 7009, doi. 10.1007/s12035-018-0883-5
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- Article
Novel lissencephaly-associated NDEL1 variant reveals distinct roles of NDE1 and NDEL1 in nucleokinesis and human cortical malformations.
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- Acta Neuropathologica, 2024, v. 147, n. 1, p. 1, doi. 10.1007/s00401-023-02665-y
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- Publication type:
- Article
Is Period3 Genotype Associated With Sleep and Recovery in Patients With Disorders of Consciousness?
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- Neurorehabilitation & Neural Repair, 2016, v. 30, n. 5, p. 461, doi. 10.1177/1545968315604398
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- Publication type:
- Article
Deep Learning Representation from Electroencephalography of Early-Stage Creutzfeldt-Jakob Disease and Features for Differentiation from Rapidly Progressive Dementia.
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- International Journal of Neural Systems, 2017, v. 27, n. 2, p. -1, doi. 10.1142/S0129065716500398
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- Article
Anatomically compliant modes of variations: New tools for brain connectivity.
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- PLoS ONE, 2023, v. 18, n. 11, p. 1, doi. 10.1371/journal.pone.0292450
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- Article
Towards the Automatic Localization of the Irritative Zone Through Magnetic Source Imaging.
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- Brain Topography, 2020, v. 33, n. 5, p. 651, doi. 10.1007/s10548-020-00789-y
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- Article
Cerebellar Involvement in Patients with Mild to Moderate Myoclonus Due to EPM1: Structural and Functional MRI Findings in Comparison with Healthy Controls and Ataxic Patients.
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- Brain Topography, 2017, v. 30, n. 3, p. 380, doi. 10.1007/s10548-016-0534-y
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- Publication type:
- Article
Neural Signatures of Economic Parameters During Decision-Making: A Functional MRI (fMRI), Electroencephalography (EEG) and Autonomic Monitoring Study.
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- Brain Topography, 2012, v. 25, n. 1, p. 73, doi. 10.1007/s10548-011-0210-1
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- Article
Screening of SLC2A1 in a large cohort of patients suspected for Glut1 deficiency syndrome: identification of novel variants and associated phenotypes.
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- Journal of Neurology, 2019, v. 266, n. 6, p. 1439, doi. 10.1007/s00415-019-09280-6
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- Article
ANO10 mutational screening in recessive ataxia: genetic findings and refinement of the clinical phenotype.
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- Journal of Neurology, 2019, v. 266, n. 2, p. 378, doi. 10.1007/s00415-018-9141-z
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- Article
Correlation between autistic traits and brain functional connectivity in preschoolers with autism spectrum disorder: a resting state MEG study.
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- Neurological Sciences, 2024, v. 45, n. 9, p. 4549, doi. 10.1007/s10072-024-07528-2
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- Article
Antidepressant effect of vagal nerve stimulation in epilepsy patients: a systematic review.
- Published in:
- 2020
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- Publication type:
- journal article
GEN-O-MA project: an Italian network studying clinical course and pathogenic pathways of moyamoya disease-study protocol and preliminary results.
- Published in:
- 2019
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- Publication type:
- journal article
Death in Unverricht-Lundborg disease.
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- 2009
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- Publication type:
- journal article
Death in Unverricht–Lundborg disease.
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- Neurological Sciences, 2009, v. 30, n. 4, p. 315, doi. 10.1007/s10072-009-0102-2
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- Publication type:
- Article
Phenytoin Inhibits the Persistent Sodium Current in Neocortical Neurons by Modifying Its Inactivation Properties.
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- PLoS ONE, 2013, v. 8, n. 1, p. 1, doi. 10.1371/journal.pone.0055329
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- Article
Analyzing the Loss and the Recovery of Consciousness: Functional Connectivity Patterns and Changes in Heart Rate Variability During Propofol-Induced Anesthesia.
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- Frontiers in Systems Neuroscience, 2021, v. 15, p. N.PAG, doi. 10.3389/fnsys.2021.652080
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- Article
Epileptic phenotypes in children with early‐onset mitochondrial diseases.
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- Acta Neurologica Scandinavica, 2019, v. 140, n. 3, p. 184, doi. 10.1111/ane.13130
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- Article
Cytoarchitectural, behavioural and neurophysiological dysfunctions in the BCNU-treated rat model of cortical dysplasia.
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- European Journal of Neuroscience, 2013, v. 37, n. 1, p. 150, doi. 10.1111/ejn.12032
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- Article
ICTAL EEG Fast Activity in West Syndrome: From Onset to Outcome.
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- Epilepsia (Series 4), 2007, v. 48, n. 11, p. 2101, doi. 10.1111/j.1528-1167.2007.01264.x
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- Publication type:
- Article
Electroclinical Features of a Family with Simple Febrile Seizures and Temporal Lobe Epilepsy Associated with SCN1A Loss-of-Function Mutation.
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- Epilepsia (Series 4), 2007, v. 48, n. 9, p. 1691, doi. 10.1111/j.1528-1167.2007.01153.x
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- Publication type:
- Article
Epileptogenic Channelopathies: Experimental Models of Human Pathologies.
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- Epilepsia (Series 4), 2007, v. 48, p. 51, doi. 10.1111/j.1528-1167.2007.01067.x
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- Publication type:
- Article
Clinical and Genetic Findings in 26 Italian Patients with Lafora Disease.
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- Epilepsia (Series 4), 2006, v. 47, n. 3, p. 640, doi. 10.1111/j.1528-1167.2006.00479.x
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- Publication type:
- Article
Periventricular Nodular Heterotopia: Classification, Epileptic History, and Genesis of Epileptic Discharges.
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- Epilepsia (Series 4), 2006, v. 47, n. 1, p. 86, doi. 10.1111/j.1528-1167.2006.00374.x
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- Publication type:
- Article
Comparison of Resampling Techniques for Imbalanced Datasets in Machine Learning: Application to Epileptogenic Zone Localization From Interictal Intracranial EEG Recordings in Patients With Focal Epilepsy.
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- Frontiers in Neuroinformatics, 2021, v. 15, p. 1, doi. 10.3389/fninf.2021.715421
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- Article
EEG-informed fMRI analysis during a hand grip task: estimating the relationship between EEG rhythms and the BOLD signal.
- Published in:
- Frontiers in Human Neuroscience, 2014, v. 8, p. 1, doi. 10.3389/fnhum.2014.00186
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- Publication type:
- Article
Effects in Neocortical Neurons of Mutations of the Nav1.2 Na<sup>+</sup> Channel causing Benign Familial Neonatal-Infantile Seizures.
- Published in:
- Journal of Neuroscience, 2006, v. 26, n. 40, p. 10100, doi. 10.1523/JNEUROSCI.2476-06.2006
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- Article
A rescuable folding defective Na<sub>v</sub>1.1 ( SCN1A) sodium channel mutant causes GEFS+: Common mechanism in Na<sub>v</sub>1.1 related epilepsies?
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- Human Mutation, 2009, v. 30, n. 7, p. E747, doi. 10.1002/humu.21041
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- Article
Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-12671-y
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- Publication type:
- Article
Early cortico-muscular coherence and cortical network changes in Parkinson's patients treated with MRgFUS.
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- Frontiers in Neurology, 2024, p. 1, doi. 10.3389/fneur.2024.1362712
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- 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