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Journal of Child Neurology|March 7, 2009
Börjeson-Forssman-Lehmann Syndrome due to a novel plant homeodomain zinc finger mutation in the PHF6 geneMarie Mangelsdorf, Evelyne Chevrier, Aki Mustonen, et al.
American Journal of Medical Genetics|October 12, 2002
Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutationGillian Turner, Michael Partington, Bronwyn Kerr, et al.
Science China. Life Sciences|March 25, 2014
RNA-binding proteins in neurological diseasesHuaLin Zhou, Marie Mangelsdorf, JiangHong Liu, et al.
The Neuroscientist : a Review Journal Bringing Neurobiology, Neurology and Psychiatry|November 8, 2014
Amyotrophic Lateral Sclerosis Genetic Studies: From Genome-wide Association Mapping to Genome SequencingJi He, Marie Mangelsdorf, Dongsheng Fan, et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration|November 9, 2012
Identification of RNA bound to the TDP-43 ribonucleoprotein complex in the adult mouse brainRamesh K Narayanan, Marie Mangelsdorf, Ajay Panwar, et al.
Micropublication Biology|April 3, 2023
Transgenic mice overexpressing mutant TDP-43 show aberrant splicing of neurological disorders-associated gene Zmynd11 prior to onset of motor symptomsRamesh K Narayanan, Ajay Panwar, Tim J Butler, et al.
The Journal of Clinical Investigation|January 26, 2005
The chromatin-remodeling protein ATRX is critical for neuronal survival during corticogenesisNathalie G Bérubé, Marie Mangelsdorf, Magdalena Jagla, et al.
Journal of Cell Science|October 28, 2015
Inhibition of motor neuron death in vitro and in vivo by a p75 neurotrophin receptor intracellular domain fragmentDusan Matusica, Fabienne Alfonsi, Bradley J Turner, et al.
European Journal of Human Genetics : EJHG|May 26, 2016
A non-coding variant in the 5' UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disabilityRaman Kumar, Thuong Ha, Duyen Pham, et al.
BMC Medical Genetics|April 27, 2005
XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) geneMonica L Stepp, A Lauren Cason, Merran Finnis, et al.
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