37 results on '"Di Capua, Matteo"'
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2. Missense mutations of CACNA1A are a frequent cause of autosomal dominant nonprogressive congenital ataxia
3. Brain auditory evoked potentials in pediatric Intensive Care Unit: diagnostic role on encephalopathy and central respiratory failure on infants.
4. Corticospinal tract damage in HHH syndrome: a metabolic cause of hereditary spastic paraplegia
5. Early electroencephalogram and somatosensory evoked potentials as prognostic bedside tools in the pediatric cardiac intensive care
6. Axonal peripheral neuropathy in propionic acidemia: A severe side effect of long-term metronidazole therapy
7. Neonatal Cerebral Venous Thrombosis following Maternal SARS-CoV-2 Infection in Pregnancy
8. A Novel Mutation in RPL10 (Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal Dysplasia
9. Intravenous levetiracetam terminates refractory status epilepticus in two patients with migrating partial seizures in infancy
10. Brain auditory evoked potentials in pediatric intensive care unit: diagnostic role on encephalopathy and central respiratory failure on infants.
11. Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene
12. Childhood-Onset Multifocal Motor Neuropathy with IgM Antibodies to Gangliosides GM1: A Case Report with Poor Outcome
13. Ring 21 chromosome presenting with epilepsy and intellectual disability: Clinical report and review of the literature
14. Early electroencephalogram and somatosensory evoked potentials as prognostic bedside tools in the paediatric cardiac intensive care. A pilot study
15. A reappraisal of the value of video-EEG recording in the emergency department
16. Subdural Fluid Collections in Patients With Infantile Neuronal Ceroid Lipofuscinosis
17. Biochemical and Molecular Characterization of 18 Patients With Pyridoxine-Dependent Epilepsy and Mutations of the Antiquitin (ALDH7A1) Gene
18. Early electroencephalogram and somatosensory evoked potentials as prognostic bedside tools in the pediatric cardiac intensive care.
19. Influence of etiology on treatment choices for neonatal seizures: A survey among pediatric neurologists
20. Bilateral loss of cortical SEPs predict severe MRI lesions in neonatal hypoxic ischemic encephalopathy treated with hypothermia
21. Mutations in the Heme Exporter FLVCR1 Cause Sensory Neurodegeneration with Loss of Pain Perception
22. A Novel Mutation inRPL10(Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal Dysplasia
23. Infantile-Onset Ascending Hereditary Spastic Paralysis Is Associated with Mutations in the Alsin Gene
24. Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene
25. Video/EEG aspects of early-infantile epileptic encephalopathy with suppression-bursts (Ohtahara syndrome)
26. Neurofibromatosis Type 1 Presenting With Hand Dystonia
27. EARLY COGNITION, COMMUNICATION AND LANGUAGE IN CHILDREN WITH FOCAL BRAIN INJURY
28. Benign infantile familial convulsions: Clinical and genetic aspects
29. Benign intracranial hypertension in an older child with cystic fibrosis
30. Benign neonatal sleep myoclonus: Clinical features and video-polygraphic recordings
31. Congenital X-linked ataxia, progressive myoclonic encephalopathy, macular degeneration and recurrent infections
32. Paroxysmal hypertension and tachycardia as the only manifestations of partial seizures in a paralyzed child
33. Sacral evoked reflex in children
34. STARTLE DISEASE: AN AVOIDABLE CAUSE OF SUDDEN INFANT DEATH
35. Ring 21 chromosome presenting with epilepsy and intellectual disability: clinical report and review of the literature
36. Longitudinal myelitis in systemic lupus erythematosus: a paediatric case.
37. A Multicentre Database for Normative Brainstem Auditory Evoked Potentials (BAEPs) in Children: Methodology for Data Collection and Evaluation.
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