521 results on '"Canafoglia, Laura"'
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2. Use, experience and perspectives of high-density EEG among Italian epilepsy centers: a national survey
3. Novel lissencephaly-associated NDEL1 variant reveals distinct roles of NDE1 and NDEL1 in nucleokinesis and human cortical malformations
4. Brivaracetam as Early Add-On Treatment in Patients with Focal Seizures: A Retrospective, Multicenter, Real-World Study
5. Cortico-muscular coherence and brain networks in familial adult myoclonic epilepsy and progressive myoclonic epilepsy
6. Significance and clinical suggestions for the somatosensory evoked potentials increased in amplitude revealed by a large sample of neurological patients
7. Epileptic syndrome with myoclonus as manifestation of adult-onset CblC deficiency
8. Ocular phenotype and electroretinogram abnormalities in Lafora disease and correlation with disease stage
9. Adjunctive Brivaracetam in Older Patients with Focal Seizures: Evidence from the BRIVAracetam add‑on First Italian netwoRk Study (BRIVAFIRST)
10. Spinocerebellar Ataxia Type 1: One-Year Longitudinal Study to Identify Clinical and MRI Measures of Disease Progression in Patients and Presymptomatic Carriers
11. Adjunctive Brivaracetam in Focal Epilepsy: Real-World Evidence from the BRIVAracetam add-on First Italian netwoRk STudy (BRIVAFIRST)
12. Different circuitry dysfunction in drug-naive patients with juvenile myoclonic epilepsy and juvenile absence epilepsy
13. Myoclonus: Differential diagnosis and current management
14. Pathological Deficit of Cystatin B Impairs Synaptic Plasticity in EPM1 Human Cerebral Organoids
15. Correction to: Adjunctive Brivaracetam in Focal Epilepsy: Real‑World Evidence from the BRIVAracetam add‑on First Italian netwoRk Study (BRIVAFIRST)
16. Severe Epilepsy and Movement Disorder May Be Early Symptoms of TMEM106B-Related Hypomyelinating Leukodystrophy
17. Italian cohort of Lafora disease: Clinical features, disease evolution, and genotype-phenotype correlations
18. SYNGAP1-DEE: A visual sensitive epilepsy
19. Case report: Marked electroclinical improvement by fluoxetine treatment in a patient with KCNT1-related drug-resistant focal epilepsy.
20. Cortical network dysfunction revealed by magnetoencephalography in carriers of spinocerebellar ataxia 1 or 2 mutation
21. Use, experience and perspectives of high-density EEG among Italian epilepsy centers: a national survey
22. A novel de novo HCN2 loss‐of‐function variant causing developmental and epileptic encephalopathy treated with a ketogenic diet
23. Myoclonus in genetic Alzheimer’s disease due to Presenilin-1 mutation
24. Cortical Myoclonus and Complex Paroxysmal Dyskinesias in a Patient with NAA15 Variant.
25. Connectivity measures suggest a sub-cortical generator of myoclonus in Angelman syndrome
26. Progressive Myoclonus Epilepsies: Diagnostic Yield With Next-Generation Sequencing in Previously Unsolved Cases
27. FDG-PET assessment and metabolic patterns in Lafora disease
28. HCN ion channels and accessory proteins in epilepsy: genetic analysis of a large cohort of patients and review of the literature
29. Network characteristics in benign epilepsy with centro-temporal spikes patients indicating defective connectivity during spindle sleep: A partial directed coherence study of EEG signals
30. A real‐world comparison among third‐generation antiseizure medications: Results from the COMPARE study.
31. Focal Dystonic Tremor as a Prominent Feature in a Child with a CACNA1A‐Related Disorder
32. Premotor cortex involvement in faciobrachial dystonic seizures: A contribution from MEG-EMG study in a case of anti-LGI1 encephalitis
33. Case report: SLC6A1 mutations presenting with isolated absence seizures: description of 2 novel cases
34. N°225 – MEG resting state functional connectivity in carriers of spinocerebellar ataxia 1 or 2 reveals network modifications long before the clinical disease onset
35. N°234 – Multimodal evoked fields in Friedreich ataxia
36. Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis
37. Screening of SLC2A1 in a large cohort of patients suspected for Glut1 deficiency syndrome: identification of novel variants and associated phenotypes
38. ANO10 mutational screening in recessive ataxia: genetic findings and refinement of the clinical phenotype
39. Teaching Video NeuroImage: Reflex Seizures Mimicking Paroxysmal Dystonic Movements in a Patient With Late-Onset Rasmussen Encephalitis
40. IRF2BPL: A new genotype for progressive myoclonus epilepsies
41. Rhythmic cortical myoclonus in patients with 6Q22.1 deletion
42. Movement-activated cortical myoclonus in Dravet syndrome
43. Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2
44. Adjunctive brivaracetam and sustained seizure frequency reduction in very active focal epilepsy.
45. A novel <scp> KCNC1 </scp> gain‐of‐function variant causing developmental and epileptic encephalopathy: 'precision medicine' approach with fluoxetine
46. Kv7.3 Compound Heterozygous Variants in Early Onset Encephalopathy Reveal Additive Contribution of C-Terminal Residues to PIP2-Dependent K+ Channel Gating
47. Repetitive Sleep Starts in Allan-Herndon-Dudley Syndrome
48. Progressive myoclonus epilepsies due to SEMA6B mutations. New variants and appraisal of published phenotypes
49. Differential diagnosis of familial adult myoclonic epilepsy
50. Neurologic, Neuropsychologic, and Neuroradiologic Features ofEBF3-Related Syndrome
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