- Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathyHeather M McLaughlin
Laboratory for Molecular Medicine, 65 Landsdowne Street, Cambridge, MA, 02139, USA
BMC Med Genet 14:68. 2013..To date, only ~50 disease-associated variants have been described, and the majority of these lead to dominant-negative effects. However, the complete genotypic spectrum of desminopathy is not well established...
- Do maternal folate and homocysteine levels play a role in neurodevelopmental processes that increase risk for schizophrenia?Jonathan D Picker
Department of Genetics, Harvard Medical School McLean Hospital, Belmont, MA, USA
Harv Rev Psychiatry 13:197-205. 2005....
- Arginase deficiency with lethal neonatal expression: evidence for the glutamine hypothesis of cerebral edemaJonathan D Picker
Divisions of Genetics and Neuropathology, Children s Hospital Boston, The Department of Neurology, Massachusetts General Hospital, Cambridge, Massachusetts 02115, USA
J Pediatr 142:349-52. 2003..The levels of glutamine and arginine but not ammonia were markedly elevated, lending support to the "glutamine hypothesis" as the mechanism of cerebral edema in urea cycle defects...