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1. Endocrinological features and epileptic encephalopathy in COX deficiency due to SCO1 mutations: case series and review of literature

2. Bilateral temporal lobe dysplasia and seizure onset associated with biallelic CNTNAP2 variants

3. A de novo KCNQ2 Gene Mutation Associated With Non-familial Early Onset Seizures: Case Report and Revision of Literature Data

4. Severe presentation and complex brain malformations in an individual carrying a CCND2 variant

5. Neuronal migration disorders

8. A Novel Splicing SCN2A Mutation in an Adolescent With Low-Functioning Autism, Acute Dystonic Movement Disorder, and Late-Onset Generalized Epilepsy

9. Early-onset bradykinetic rigid syndrome and reflex seizures in a child with PURA syndrome

10. Defining causal variants in rare epilepsies: an essential team effort between biomedical scientists, geneticists and epileptologists

11. Cerebral folate transporter deficiency syndrome in three siblings: Why genetic testing for developmental and epileptic encephalopathies should be performed early and include the <scp> FOLR1 </scp> gene

12. NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

13. Lessons learned from 40 novel PIGA patients and a review of the literature

14. Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders

15. Expanding the genetic and phenotypic spectrum of CHD2-related disease: From early neurodevelopmental disorders to adult-onset epilepsy

16. The spectrum of brain malformations and disruptions in twins

17. Cortical malformations and COL4A1 mutation: Three new cases

18. Cerebellar dentate nuclei swelling: a new and early magnetic resonance imaging finding of beta-propeller protein–associated neurodegeneration

19. Deciphering the premature mortality in PIGA-CDG – An untold story

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

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

22. Developmental and epilepsy spectrum of KCNB1 encephalopathy with long‐term outcome

23. SCN3A ‐related neurodevelopmental disorder: A spectrum of epilepsy and brain malformation

24. Migrating Focal Seizures and Myoclonic Status in

25. Shedding light on dark genes: enhanced targeted resequencing by optimizing the combination of enrichment technology and DNA fragment length

26. Intrafamilial variability in SPTAN1-related disorder: From benign convulsions with mild gastroenteritis to developmental encephalopathy

27. Long-term follow-up of an individual with ITPR1-related disorder

28. List of contributors

29. International consensus recommendations on the diagnostic work-up for malformations of cortical development

30. Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly

31. Diaper changing-induced reflex seizures in CDKL5-related epilepsy

32. Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the CEP85L Gene: A Case Report and Refining of the Phenotypic Spectrum

33. Lesional and non-lesional epilepsies: A blurring genetic boundary

34. Early infantile epileptic-dyskinetic encephalopathy due to biallelic

35. Enhanced targeted resequencing by optimizing the combination of enrichment technology and DNA fragment length

36. Severe presentation and complex brain malformations in an individual carrying a CCND2 variant

37. Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity

38. Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals

39. TBC1D24-TLDc-related epilepsy exercise-induced dystonia: rescue by antioxidants in a disease model

40. Migrating Focal Seizures and Myoclonic Status in ARV1-Related Encephalopathy

41. Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy

42. The syndrome of polymicrogyria, thalamic hypoplasia, and epilepsy with CSWS

43. Early infantile epileptic-dyskinetic encephalopathy due to biallelic PIGP mutations

44. HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond

45. What is the role of next generation sequencing in status epilepticus?

46. Familial dominant epilepsy and mild pachygyria associated with a constitutional LIS1 mutation

47. Severe 5,10-methylenetetrahydrofolate reductase deficiency: A rare, treatable cause of complicated hereditary spastic paraplegia

48. PRICKLE1-related early onset epileptic encephalopathy

49. A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

50. Foscolo e l’estetica di Lessing

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