408 results on '"Spagnoli Carlotta"'
Search Results
2. Severe Neurodevelopmental Disorder in Autosomal Recessive Spinocerebellar Ataxia 13 (SCAR13) Caused by Two Novel Frameshift Variants in GRM1
3. Early-onset dysphagia and severe neurodevelopmental disorder as early signs in a patient with two novel variants in NARS1: a case report and brief review of the literature
4. Heterozygous truncating variant of TAOK1 in a boy with periventricular nodular heterotopia: a case report and literature review of TAOK1-related neurodevelopmental disorders
5. Acute symptomatic seizures in newborns: a narrative review
6. Tolosa-Hunt syndrome and recurrent painful ophthalmoplegic neuropathy, case reports: what to do and when?
7. EEG at onset and MRI predict long-term clinical outcome in Aicardi syndrome
8. Long-term neurological and psychiatric outcomes in patients with aromatic l-amino acid decarboxylase deficiency
9. An Italian consensus on the management of Lennox-Gastaut syndrome
10. Axonal motor polyneuropathy in a 13 years old Girl with a de Novo variant in ADNP.
11. Sensory–Motor Polyneuropathy in an 11-year- old Girl with a Pathogenic Variant in SMC1A : A Case Report.
12. What are the main challenges in the treatment of neonatal hypoxic ischemic encephalopathy?
13. Two novel compound heterozygous HOXB1 variants in congenital facial palsy: A case report and a brief review of the literature.
14. Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review
15. Correction to: Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review
16. SPG6 (NIPA1 variant): A report of a case with early-onset complex hereditary spastic paraplegia and brief literature review
17. Further delineation of PIGB-related early infantile epileptic encephalopathy
18. Seizures in the neonate: A review of etiologies and outcomes
19. Linking acute symptomatic neonatal seizures, brain injury and outcome in preterm infants
20. Identification of Potential Clusters of Signs and Symptoms to Prioritize Patients’ Eligibility for AADCd Screening by 3-OMD Testing: An Italian Delphi Consensus
21. Neonatal seizures in preterm infants: A systematic review of mortality risk and neurological outcomes from studies in the 2000's
22. Infantile-Onset Spinocerebellar Ataxia Type 5 (SCA5) with Optic Atrophy and Peripheral Neuropathy
23. Educational needs and career development of young epileptologists in Italy
24. Mycoplasma pneumoniae-Associated Encephalitis: Favorable Aggressive Immunosuppression in a Patient
25. Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study
26. Transition and management of patients with Duchenne Muscular Dystrophy: a narrative review based on Italian experts’ opinion and real-world experience.
27. Guillain-Barrè Syndrome—Retrospective Analysis of Data from a Cohort of Patients Referred to a Tertiary Care Pediatric Neuromuscular Center from 2000 to 2017: Electrophysiological Findings, Outcomes, and a Brief Literature Review.
28. Acute symptomatic neonatal seizures in preterm neonates: etiologies and treatments
29. Genetic diagnosis in neonatal-onset epilepsies: Back to the future
30. ‘A novel TRIP4 Variant Associated with Peripheral Neuropathy: Expanding the Clinical and Genetic Spectrum of ASC1-Related Myopathy’
31. Severe Neurodevelopmental Disorder in Autosomal Recessive Spinocerebellar Ataxia 13 (SCAR13) Caused by Two Novel Frameshift Variants in GRM1
32. Tick-Borne Encephalitis in a 6-Year-Old Patient: A Case Report
33. Correction to: Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review
34. A Novel De Novo KIF21A Variant in a Patient With Congenital Fibrosis of the Extraocular Muscles With a Syndromic CFEOM Phenotype
35. Monitoring infants by automatic video processing: A unified approach to motion analysis
36. Aromatic L-Amino-Acid Decarboxylase Deficiency Screening by Analysis of 3-O-Methyldopa in Dried Blood Spots: Results of a Multicentric Study in Neurodevelopmental Disorders
37. Posterior Cranial Fossa Malformation and Vascular Dysplasia in GJB2 Gene Mutation
38. Case report: Expanding the phenotype of FOXP1-related intellectual disability syndrome and hyperkinetic movement disorder in differential diagnosis with epileptic seizures
39. Neonatal seizures in preterm newborns: A predictive model for outcome
40. Contributors
41. Outcome in preterm infants with seizures
42. Diagnosis and Management of Acute Seizures in Neonates
43. EEG Monitoring of the Epileptic Newborn
44. Long-term follow-up until early adulthood in autosomal dominant, complex SPG30 with a novel KIF1A variant: a case report
45. Novel Insights from Clinical Practice: Xia-Gibbs Syndrome with Pes Cavus, Conjunctival Melanosis, and Eye Asymmetry due to a de novo AHDC1 Gene Variant – A Case Report and a Brief Review of the Literature.
46. 'A novel TRIP4 Variant Associated with Peripheral Neuropathy: Expanding the Clinical and Genetic Spectrum of ASC1-Related Myopathy'.
47. A Novel Family with Demyelinating Charcot–Marie–Tooth Disease Caused by a Mutation in the PMP2 Gene: A Case Series of Nine Patients and a Brief Review of the Literature
48. Expanding Phenotype of SYT1-Related Neurodevelopmental Disorder: Case Report and Literature Review
49. Neonatal status epilepticus: Differences between preterm and term newborns
50. Ocular flutter, generalized myoclonus, and ataxia associated with anti-GM1, GD1a, and GD1b antibodies in a 6-year-old child
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