Your Article Summary
See Latest ArticlesA Novel MECP2 Mutation in a Boy with Neonatal Encephalopathy and Facial Dysmorphism
The Journal of Pediatrics, 07/01/09
Julich K et al. - Methly-CpG-binding protein 2 mutations cause Rett syndrome in females. Here authros report on a male infant with neonatal encephalopathy, myoclonic jerks, and irregular breathing patterns caused by a novel frameshift mutation in the MECP2 gene. In addition he has facial dysmorphisms previously not described in these patients.
Today in Basic Science/Genetics...keeping you current
Receive free subspecialty "5-minute updates" via email
The APOE gene and cognitive function in non-demented and Alzheimers disease patients
Reviews in Clinical Gerontology, 12/15/09
Circulating free nitrotyrosine and cognitive decline
Acta Neurologica Scandinavica, 12/15/09
Large scale SOD1 mutation screening provides evidence for genetic heterogeneity in amyotrophic lateral sclerosis
Journal of Neurology, Neurosurgery, and Psychiatry , 12/15/09
Today in Pediatric Neurology...keeping you current
Receive free subspecialty "5-minute updates" via email
Predicting school readiness from neurodevelopmental assessments at age 2 years after respiratory distress syndrome in infants born preterm
Developmental Medicine & Child Neurology, 12/15/09
Chronic inflammatory demyelinating polyradiculoneuropathy in children: characterized by subacute, predominantly motor dominant polyeuropathy with a favorable response to the treatment
Acta Neurologica Scandinavica, 12/15/09
Neurofibromatosis type 1 and high-grade tumors of the central nervous system
Child's Nervous System, 12/15/09