Marie Mangelsdorf
Queensland University of Technology(AU)University of Queensland(AU)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Amyotrophic Lateral Sclerosis Research, Neurogenetic and Muscular Disorders Research, Ubiquitin and proteasome pathways, Genomic variations and chromosomal abnormalities
Most-Cited Works
- Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. The International FMF Consortium.(1997)
- → Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy(2002)431 cited
- → Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX(2002)197 cited
- → The chromatin-remodeling protein ATRX is critical for neuronal survival during corticogenesis(2005)189 cited
- → Human Chromosomal Fragile Site FRA16B Is an Amplified AT-Rich Minisatellite Repeat(1997)184 cited
- → Mutations in the DLG3 Gene Cause Nonsyndromic X-Linked Mental Retardation(2004)174 cited
- → Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation(2002)127 cited