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Two Patients With a GRIN2A Mutation and Childhood-onset Epilepsy.
N-methyl-d-aspartate is a key neurotransmitter within the central nervous system and its dysfunction can play an important role in epilepsy. Mutations of genes involving the N-methyl-d-aspartate receptor have been implicated in a wide variety of neuropsychiatric disorders including epilepsy, specifi...
Communicating hydrocephalus in metachromatic leukodystrophy.
What price progress: delayed cerebrovascular lesions in cancer survivors.
Validity of the neurological examination in diagnosing diabetic peripheral neuropathy.
The aim of this study was to evaluate the prevalence of diabetic peripheral neuropathy in children and adolescents with type 1 diabetes mellitus and examine whether the neurological examination validly diagnoses diabetic peripheral neuropathy as compared with the gold standard of nerve conduction ve...
Cutaneous and leptomeningeal hemangiomas with impressive benign evolution.
We describe an infant with cutaneous and leptomeningeal diffuse hemangiomata. Clinical facial anomalies were evident at birth. Routine transfontanellar ultrasonography revealed very diffuse leptomeningeal hemangioma. Magnetic resonance imaging during the first days of age confirmed vascular lesions....
Matrix metalloproteinase-7 and matrix metalloproteinase-9 in pediatric multiple sclerosis.
We determined serum levels of matrix metalloproteinase-7, matrix metalloproteinase-9, and tissue inhibitor of matrix metalloproteinase-1 in children, and evaluated effects of interferon-β therapy on these measures. Serum samples from 14 children with relapsing, remitting multiple sclerosis at basel...
Rituximab in severe seronegative juvenile myasthenia gravis: review of the literature.
We describe a child with severe, life-threatening seronegative myasthenia gravis who repeatedly failed extubation and responded dramatically to rituximab. She achieved complete and sustained remission for more than 9 months, with gradual reduction in steroid dose without any side effects. Advances i...
Anti-GQ1b-negative Miller Fisher syndrome after Campylobacter jejuni enteritis.
Miller Fisher syndrome is a clinical variant of Guillain-Barré syndrome, characterized by acute-onset ophthalmoplegia, ataxia, and areflexia. It results from an immune response to a cross-reactive antigen between GQ1b ganglioside in human neurons and lipo-oligosaccharides of certain...
Influence of respiratory acidosis and blood glucose on cerebral activity of premature infants.
Fluctuations of physiologic parameters in extremely preterm infants may significantly affect their cerebral activity. This study assessed the correlation between blood gas indices and other clinical parameters with cerebral activity, as recorded by amplitude integrated electroencepha...
A novel PCDH19 mutation inherited from an unaffected mother.
We report on a 13-year-old girl with a negative family history who manifested drug-resistant, mostly fever-induced seizures in clusters from age 5 months. Seizure frequency was not substantially reduced by anticonvulsant treatment, but tended to decrease with age. Early behavioral changes, i.e., aut...