Concepedia
Statistics
Publications
27
Citations
3K
H-Index
22
Active since
1995
Affiliations
Women's and Children's Hospital(Current)
The University of Adelaide
The University of Queensland
Hunter Genetics
Translational Research Institute
Marie Mangelsdorf is an author at Women's and Children's Hospital specializing in genetics, life sciences, and molecular genetics.
Publications per year
1995–2018
Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. The International FMF Consortium.
Nurit Zaks, JE Balow, Elaine Mansfield et al. · Cell · 1997 · 668 citations
Life Sciences, Genetics, Molecular Genetics +10
Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy
Petter Strømme, Marie Mangelsdorf, Marie Shaw et al. · Nature Genetics · 2002 · 432 citations
Life Sciences, Genetics, Molecular Genetics +14
Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX
Petter Strømme, Marie Mangelsdorf, Ingrid E. Scheffer et al. · Brain and Development · 2002 · 197 citations
Life Sciences, Genetics, Molecular Genetics +13
The chromatin-remodeling protein ATRX is critical for neuronal survival during corticogenesis
Nathalie G. Bérubé, Marie Mangelsdorf, Magdalena Jagla et al. · Journal of Clinical Investigation · 2005 · 192 citations · Full text
Life Sciences, Genetics, Neuroscience +17
Nathalie G. Bérubé, Marie Mangelsdorf, Magdalena Jagla et al. · Journal of Clinical Investigation · 2005 · 189 citations · Full text
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