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A 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
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A family with autosomal dominant leukodystrophy linked to 5q23.2–q23.3 without lamin B1 mutations
European Journal of Neurology, 12/18/09
The effect of repeated administrations of granulocyte colony stimulating factor for blood stem cells mobilization in patients with progressive supranuclear palsy, corticobasal degeneration and multiple system atrophy
Clinical Neurology and Neurosurgery, 12/18/09
Measuring cortisol and DHEA in fingernails: A pilot study
Neuropsychiatric Disease and Treatment, 12/18/09
Today in Pediatric Neurology...keeping you current
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Expression of neuronal antigens and related ventral and dorsal proteins in the normal spinal cord and a surgically induced open neural tube defect of the spine in chick embryos: an immunohistochemical study
Child's Nervous System, 12/18/09
An uncommon illness with a rare presentation: neurosurgical management of ADEM with tumefactive demyelination in children
Child's Nervous System, 12/18/09
Stimulation threshold potentials of intraoperative cortical motor mapping using monopolar trains of five in pediatric epilepsy surgery
Child's Nervous System, 12/18/09
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