Gene Associated with Seizures, Autism, and Hepatomegaly in an Amish Girl
Tài liệu tham khảo
Strauss, 2006, Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2, N Engl J Med, 354, 1370, 10.1056/NEJMoa052773
Lord, 2000, The Autism Diagnostic Observation Schedule–Generic: a standard measure of social and communication deficits associated with the spectrum of autism, J Autism Dev Disord, 30, 205, 10.1023/A:1005592401947
Gilliam, 1995
Murata, 2005, Possible antenatal and perinatal related factors in development of cystic periventricular leukomalacia, Brain Dev, 27, 17, 10.1016/j.braindev.2004.02.011
Tekgul, 2004, Prognostic correlative values of the late-infancy MRI pattern in term infants with perinatal asphyxia, Pediatr Neurol, 31, 35, 10.1016/j.pediatrneurol.2003.11.012
Miller, 2000, Neuromotor spectrum of periventricular leukomalacia in children born at term, Pediatr Neurol, 23, 155, 10.1016/S0887-8994(00)00172-7
Poll-The, 2004, Spastic diplegia and periventricular white matter abnormalities in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, a defect of isoleucine metabolism: differential diagnosis with hypoxic–ischemic brain diseases, Mol Genet Metab, 81, 295, 10.1016/j.ymgme.2003.11.013
García-Cazorla, 2004, White matter alterations associated with chromosomal disorders, Dev Med Child Neurol, 46, 148, 10.1111/j.1469-8749.2004.tb00465.x
Gurses, 1999, Periventricular leukomalacia and epilepsy: incidence and seizure pattern, Neurology, 52, 341, 10.1212/WNL.52.2.341
Vernes, 2008, A functional genetic link between distinct developmental language disorders, N Engl J Med, 359, 2337, 10.1056/NEJMoa0802828