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102 results on '"Bisulli, F."'

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1. Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3

2. Polygenic burden in focal and generalized epilepsies

3. A clinical and genetic study of 33 new cases with early-onset absence epilepsy

4. Incidence of neuroepithelial primary brain tumors among adult population of Emilia-Romagna Region, Italy

5. Which elderly newly diagnosed glioblastoma patients can benefit from radiotherapy and temozolomide? A PERNO prospective study

6. Exon-disrupting deletions ofNRXN1in idiopathic generalized epilepsy

7. Family study of epilepsy in first degree relatives: data from the Italian Episcreen Study

8. Expression of 19 microRNAs in glioblastoma and comparison with other brain neoplasia of grades I-III

9. Definition of miRNAs Expression Profile in Glioblastoma Samples: The Relevance of Non-Neoplastic Brain Reference

10. Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1,2q22.3 and 17q21.32

11. Autosomal dominant lateral temporal epilepsy: clinical spectrum, new epitempin mutations, and genetic heterogeneity in seven European families

12. Epileptic negative myoclonus and brief asymmetric tonic seizures. A supplementary sensorimotor area involvement for both negative and positive motor phenomena

13. Advances in genetic testing and optimization of clinical management in children and adults with epilepsy

14. Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

15. Risk of hospitalization and death for <scp>COVID</scp> ‐19 in persons with epilepsy over a 20‐month period: The <scp>EpiLink</scp> Bologna cohort, Italy

16. Lateralizing Value of the Auditory Aura in Partial Seizures

17. Postictal Psychosis in Epilepsy: A Clinicogenetic Study

18. Natural history of Lafora disease: a prognostic systematic review and individual participant data meta-analysis

19. Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy

20. Brain dysfunction in COVID‐19 and CAR‐T therapy: cytokine storm‐associated encephalopathy

21. Epilepsy in MT‐ATP6 ‐ related mils/NARP: correlation of elettroclinical features with heteroplasmy

22. Analysis of LGI1 promoter sequence, PDYN and GABBR1 polymorphisms in sporadic and familial lateral temporal lobe epilepsy

23. Autosomal dominant lateral temporal epilepsy: absence of mutations in ADAM22 and Kv1 channel genes encoding LGI1-associated proteins

24. A de novo LGI1 mutation causing idiopathic partial epilepsy with telephone-induced seizures

25. Genetic analysis of the LGI/Epitempin gene family in sporadic and familial lateral temporal lobe epilepsy

26. Idiopathic partial epilepsy with auditory features (IPEAF): a clinical and genetic study of 53 sporadic cases

27. Autosomal dominant lateral temporal lobe epilepsy associated with a novel reelin mutation

28. Epilepsy and inborn errors of metabolism in adults: The diagnostic odyssey of a young woman with medium-chain acyl-coenzyme A dehydrogenase deficiency

29. TELEmedicine for EPIlepsy Care (TELE-EPIC): Protocol of a randomised, open controlled non-inferiority clinical trial

30. Seizure worsening in pregnancy in women with sleep-related hypermotor epilepsy (SHE): A historical cohort study

31. Epilepsy with auditory features: Contribution of known genes in 112 patients

32. fMRI-Based Effective Connectivity in Surgical Remediable Epilepsies: A Pilot Study

33. Distinct gene-set burden patterns underlie common generalized and focal epilepsies

34. A survey of the European Reference Network EpiCARE on clinical practice for selected rare epilepsies

35. Italian cohort of Lafora disease: Clinical features, disease evolution, and genotype-phenotype correlations

36. Intravenous immunoglobulin therapy in COVID-19-related encephalopathy

37. Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals

38. If seizures left speechless: CA-P-S C-A-R-E, a proposal of a new ictal language evaluation protocol

39. Seizures with paroxysmal arousals in sleep-related hypermotor epilepsy (SHE): Dissecting epilepsy from NREM parasomnias

40. Accurate Detection of Hot-Spot MTOR Somatic Mutations in Archival Surgical Specimens of Focal Cortical Dysplasia by Molecular Inversion Probes

41. Epilepsy Subtype-Specific Copy Number Burden Observed in a Genome-Wide Study of 17 458 Subjects

42. Interrater agreement of classification of photoparoxysmal electroencephalographic response

43. EEG findings in COVID-19 related encephalopathy

44. Sleep-related hypermotor epilepsy (SHE): Contribution of known genes in 103 patients

45. Epilepsy with eyelid myoclonias and Sotos syndrome features in a patient with compound heterozygous missense variants in APC2 gene

46. Whole-exome sequencing in adult patients with developmental and epileptic encephalopathy: It is never too late

47. COVID-19-related encephalopathy presenting with aphasia resolving following tocilizumab treatment

48. Antidepressant effect of vagal nerve stimulation in epilepsy patients: a systematic review

49. Comparative risk of major congenital malformations with eight different antiepileptic drugs: a prospective cohort study of the EURAP registry

50. Low CSF hypocretin-1 levels in an adult patient with hypothalamic hamartoma

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