42 results on '"D'Onofrio, Gianluca"'
Search Results
2. Clinical and Neurophysiologic Phenotypes in Neonates With BRAT1 Encephalopathy
3. Expanding the phenotype associated with biallelic SLC20A2 variants
4. Pharmacodynamic rationale for the choice of antiseizure medications in the paediatric population
5. A PAK1 Mutational Hotspot Within the Regulatory CRIPaK Domain is Associated With Severe Neurodevelopmental Disorders in Children
6. Reversal of Benzodiazepine-Induced Myoclonus by Flumazenil in the NICU
7. Genetic polymorphisms of drug-metabolizing enzymes in older and Newer Anti-Seizure Medications
8. Abnormal course of the corticospinal tracts in KIF5C-related encephalopathy
9. Fostering Education in Epilepsy: A Canadian League Against Epilepsy Teaching Initiative
10. Myoclonus: Differential diagnosis and current management
11. Genotype–phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders
12. Lithium Toxicity in Lepidium sativum L. Seedlings: Exploring Li Accumulation's Impact on Germination, Root Growth, and DNA Integrity.
13. A proposal for a shared therapeutic algorithm in children with prolonged convulsive seizures and status epilepticus
14. An accelerated shift in the use of remote systems in epilepsy due to the COVID-19 pandemic
15. A European pilot study in Dravet Syndrome to delineate what really matters for the patients and families.
16. Treatment of refractory epilepsy with MEK inhibitor in patients with RASopathy
17. Treatment of Refractory Epilepsy With MEK Inhibitor in Patients With RASopathy.
18. Novel biallelic variants expand the phenotype of NAA20 ‐related syndrome
19. Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder
20. Cannabidiol Add-On in Glycosylphosphatidylinositol-Related Drug-Resistant Epilepsy
21. A real‐life pilot study of the clinical application of pharmacogenomics testing on saliva in epilepsy
22. Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder.
23. Current and promising therapeutic options for Dravet syndrome
24. Pharmacokinetic considerations surrounding the use of levetiracetam for seizure prophylaxis in neurocritical care – an overview
25. Urinary metabotypes of newborns with perinatal asphyxia undergoing therapeutic hypothermia
26. Paroxysmal limb dystonias associated with GABBR2 pathogenic variant: A case-based literature review
27. Additional file 1 of Genotype–phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders
28. A European pilot study in Dravet Syndrome to delineate what really matters for the patients and families
29. Families driven drug development and clinical trials: a pilot study in Dravet Syndrome to delineate what really matters
30. Influenza-associated hemolytic uremic syndrome: The pathogenic role of the virus
31. Sleep Exacerbations and Facial Twitching: Diagnostic Clues for ADCY5-Related Dyskinesias
32. Addome acuto: un caso di Schönlein-Henoch
33. Slow Titration of Cannabidiol Add-On in Drug-Resistant Epilepsies Can Improve Safety With Maintained Efficacy in an Open-Label Study
34. Add‐on cannabidiol significantly decreases seizures in 3 patients with SYNGAP1 developmental and epileptic encephalopathy
35. Sleep Exacerbations and Facial Twitching: Diagnostic Clues for ADCY5 -Related Dyskinesias.
36. Effects of Initial Levothyroxine Dose on Growth and Neurodevelopmental Outcomes During the First Year of Life in Children with Congenital Hypothyroidism
37. Novel biallelic variants expand the phenotype of NAA20-related syndrome
38. Genotype–phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders
39. Genetic polymorphisms of drug-metabolizing enzymes in older and newer anti-seizure medications.
40. Fostering Education in Epilepsy: A Canadian League Against Epilepsy Teaching Initiative.
41. Expanding the phenotype associated with biallelic SLC20A2 variants.
42. Pharmacokinetic considerations surrounding the use of levetiracetam for seizure prophylaxis in neurocritical care - an overview.
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