Neurodevelopmental diseases affect three percent of children and the specific cause is difficult to determine in many cases. Genetic research uncovered many loss or gain of function mutations in genes that are associated with synaptic development and or remodeling. However, more an more data are accumulating regarding the importance in gene regulations in neurodevelopmental diseases. Thjis issue addresses many aspects of the genomics of neurodevelopmental diseases, including articles devoted to genomic variations of brain malformations; neuroimaging of brain development; update on autism evaluation and genetics; prader-willi and angelman syndromes; tuberous sclerosis complex; genetics of pediatric epilepsy; pediatric leukodystrophies; autoimmune encephalopathies; inherited neuropathies and motor neuron diseases; and muscular dystrophies and congenital myopathies.
Neurodevelopmental diseases affect three percent of children and the specific cause is difficult to determine in many cases.
Kareem A. Zaghloul, Edward F. Chang ... S.F. Danish received an honorarium from Visualase Inc. Department of Neurosurgery, Rutgers Robert Wood Johnson Medical School, 125 Paterson Street, New Brunswick, * Corresponding author.
American Journal of Cardiovascular Drugs, 4, 87. ... Predefined massive transfusion protocols are associated with a reduction in organ failure and postinjury complications. ... Hematology/oncology Clinics of North America, 24, 215.
Part of Mosby's Neurology/Psychiatry Access Series, this new title offers a brief, yet complete overview of the basics of diagnosis and treatment of neurologic problems commonly encountered in the child or adolescent.
A new initiative on precision medicine. ... on abacavir-induced hypersensitivity reaction: a successful example of translation of pharmacogenetics to personalized medicine. ... Available from http://222. ncbi.nlm.nih.gov/books/NBK84174.
Fetal anomalies refer to structural birth defects that can be detected on prenatal ultrasound examination. ... A national Birth Defects Surveillance notification system has been recently initiated in South Africa, and may eventually ...
This foundational work comprehensively examines the current state of the genetics, genomics and brain circuitry of psychiatric and neurological disorders.
The second edition of Magnetic Resonance in Epilepsy, the only comprehensive text in the field of epilepsy neuroimaging, reviews fundamental concepts and new advances in MR technology, computerized analysis, MR spectroscopy, DWI and other ...
A Color Handbook James F Bale Jr, Joshua L Bonkowsky, Francis M Filloux, Gary L Hedlund, Paul D Larsen, Denise C. Morita ... Xanthochromia can also be observed when the serum bilirubin exceeds 15 mg/dl (256.5 μmol/l) and in infants or ...
The book should serve as a resource for professionals in all fields regarding diagnosis, management, and counseling of patients with FXTAS and their families, as well as presenting the molecular basis for disease that may lead to the ...