PARP10 deficiency manifests by infantile neurodegeneration and DNA repair defect

Por Shahrour, Maher Awni, Nicolae, Claudia M., Edvardson, Simon, Ashhab, Motee, Galvan, Adri M., Constantin, Daniel, Abu-Libdeh, Bassam, Moldovan, George-Lucian, Elpeleg, Orly
Publicado no Neurogenetics (2016)

A defect in the retromer accessory protein, SNX27, manifests by infantile myoclonic epilepsy and neurodegeneration

Por Damseh, Nadirah, Danson, Chris M., Al-Ashhab, Motee, Abu-Libdeh, Bassam, Gallon, Matthew, Sharma, Kanchan, Yaacov, Barak, Coulthard, Elizabeth, Caldwell, Maeve A., Edvardson, Simon, Cullen, Peter J., Elpeleg, Orly
Publicado no Neurogenetics (2015)