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Genotype-Phenotype Analysis Of Human Frontoparietal Polymicrogyria Syndromes
(Wiley, 2005)
Human cerebral cortical polymicrogyria is a heterogeneous disorder, with only one known gene (GPR56) associated with an apparently distinctive phenotype, termed bilateral frontoparietal polymicrogyria (BFPP). To define the ...
Life-Threatening Neurological Complications after Bone Marrow Transplantation in Children
(Nature Publishing Group, 2005)
Neurological complications may occur in BMT recipients (11-59%), frequently contributing to morbidity or mortality. They are the main causes of death in 10-15%. Life-threatening neurological complications were seen in 11 ...
Giant Axonal Neuropathy: Clinical And Genetic Study In Six Cases
(BMJ, 2005)
Background: Giant axonal neuropathy (GAN) is a severe recessive disorder characterised by variable combination of progressive sensory motor neuropathy, central nervous system (CNS) involvement, and "frizzly'' hair. The ...