203 results on '"Giacomini, Thea"'
Search Results
2. The phenotypic spectrum of epilepsy associated with periventricular nodular heterotopia
3. Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities
4. Surgical treatment of cavernous malformation-related epilepsy in children: case series, systematic review, and meta-analysis
5. Patterns of subregional cerebellar atrophy across epilepsy syndromes: An ENIGMA‐Epilepsy study
6. Sleep-Related Epilepsy, Dysautonomia, and Sudden Nocturnal Death
7. Early Immunotherapy and Longer Corticosteroid Treatment Are Associated With Lower Risk of Relapsing Disease Course in Pediatric MOGAD
8. Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities
9. CASK related disorder: Epilepsy and developmental outcome
10. Epilepsy Course and Developmental Trajectories in STXBP1-DEE
11. Clinical spectrum and genotype-phenotype correlations in PRRT2 Italian patients
12. Targeted re-sequencing in malformations of cortical development: genotype-phenotype correlations
13. Cell-based assays for the detection of MOG antibodies: a comparative study
14. 1p31.1 microdeletion including only NEGR1 gene in two patients
15. Patterns of subregional cerebellar atrophy across epilepsy syndromes: An ENIGMA-Epilepsy study
16. Electroclinical Features of Epilepsy in Kleefstra Syndrome
17. Asynchronous combined central and peripheral demyelination (CCPD) in a girl with anti-MOG positivity: A case report and review of the literature
18. Spatial coefficient of variation applied to arterial spin labeling MRI may contribute to predict surgical revascularization outcomes in pediatric moyamoya vasculopathy
19. 3q29 microduplication syndrome: Description of two new cases and delineation of the minimal critical region
20. Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder
21. Reversible cerebral vasoconstriction complicating cerebral atherosclerotic vascular disease in Schimke immuno-osseous dysplasia
22. Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish
23. Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: the Italian experience from the ‘beyond epilepsy’ project
24. Supratentorial Demyelinating Lesions Following Severe Acute Respiratory Syndrome Coronavirus-2 Infection: A Pediatric Case Report
25. Hyaline Protoplasmic Astrocytopathy in the Setting of Epilepsy
26. Prognostic relevance of quantitative and longitudinal MOG antibody testing in patients with MOGAD: a multicentre retrospective study
27. Early Immunotherapy and Longer Corticosteroid Treatment Are Associated With Lower Risk of Relapsing Disease Course in Pediatric MOGAD
28. De novo POLR2A p.(Ile457Thr) variant associated with early-onset encephalopathy and cerebellar atrophy: expanding the phenotypic spectrum
29. Correction to: Spatial coefficient of variation applied to arterial spin labeling MRI may contribute to predict surgical revascularization outcomes in pediatric moyamoya vasculopathy
30. High density EEG and arterial spin labelling MRI perfusion in the diagnosis and follow-up of patients with Moyamoya vasculopathies
31. Acute Neurological Presentation in Children With SARS-CoV-2 Infection
32. De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes
33. Prognostic relevance of quantitative and longitudinal MOG antibody testing in patients with MOGAD: a multicentre retrospective study.
34. Hyaline Protoplasmic Astrocytopathy in the Setting of Epilepsy: A Literature Review and Report of 2 Cases.
35. Supratentorial Demyelinating Lesions Following Severe Acute Respiratory Syndrome Coronavirus-2 Infection: A Pediatric Case Report.
36. A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome
37. On the role of REM sleep microstructure in suppressing interictal spikes in Electrical Status Epilepticus during Sleep
38. Comparison of Qualitative and Quantitative Analyses of MR-Arterial Spin Labeling Perfusion Data for the Assessment of Pediatric Patients with Focal Epilepsies
39. Alternating Hemiplegia of Childhood in a Child Harboring a Novel TBC1D24 Mutation: Case Report and Literature Review
40. On the Role of the REM Sleep Microstructure in the ESES Syndrome
41. Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals
42. Hemispheric surgery for severe epilepsy in early childhood: a case series
43. Focal status and acute encephalopathy in a 13-year-old boy with de novo DNM1L mutation: Video-polygraphic pattern and clues for differential diagnosis
44. Expanding the phenotype associated with interstitial 6p25.1p24.3 microdeletion: a new case and review of the literature
45. Photoparoxysmal response in ADCK3 autosomal recessive ataxia: a case report and literature review
46. Additional file 1 of Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: the Italian experience from the ‘beyond epilepsy’ project
47. Severe early-onset developmental and epileptic encephalopathy (DEE) associated with novel compound heterozygous pathogenic variants in SLC25A22: Case report and literature review
48. Substrate reduction therapy with Miglustat in pediatric patients with GM1 type 2 gangliosidosis delays neurological involvement: A multicenter experience
49. Alternating Hemiplegia of Childhood in a Child Harboring a Novel TBC1D24 Mutation: Case Report and Literature Review.
50. Migrating focal seizures in Autosomal Dominant Sleep-related Hypermotor Epilepsy with KCNT1 mutation
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