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Multiplex families with epilepsy: Success of clinical and molecular genetic characterization.
Afawi Z, Oliver KL, Kivity S, Mazarib A, Blatt I, Neufeld MY, Helbig KL, Goldberg-Stern H, Misk AJ, Straussberg R, Walid S, Mahajnah M, Lerman-Sagie T, Ben-Zeev B, Kahana E, Masalha R, Kramer U, Ekstein D, Shorer Z, Wallace RH, Mangelsdorf M, MacPherson JN, Carvill GL, Mefford HC, Jackson GD, Scheffer IE, Bahlo M, Gecz J, Heron SE, Corbett M, Mulley JC, Dibbens LM, Korczyn AD, Berkovic SF. Afawi Z, et al. Among authors: mangelsdorf m. Neurology. 2016 Feb 23;86(8):713-22. doi: 10.1212/WNL.0000000000002404. Epub 2016 Jan 22. Neurology. 2016. PMID: 26802095 Free PMC article.
Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy.
Strømme P, Mangelsdorf ME, Shaw MA, Lower KM, Lewis SM, Bruyere H, Lütcherath V, Gedeon AK, Wallace RH, Scheffer IE, Turner G, Partington M, Frints SG, Fryns JP, Sutherland GR, Mulley JC, Gécz J. Strømme P, et al. Among authors: mangelsdorf me. Nat Genet. 2002 Apr;30(4):441-5. doi: 10.1038/ng862. Epub 2002 Mar 11. Nat Genet. 2002. PMID: 11889467
Aristaless-related homeobox gene, the gene responsible for West syndrome and related disorders, is a Groucho/transducin-like enhancer of split dependent transcriptional repressor.
McKenzie O, Ponte I, Mangelsdorf M, Finnis M, Colasante G, Shoubridge C, Stifani S, Gécz J, Broccoli V. McKenzie O, et al. Among authors: mangelsdorf m. Neuroscience. 2007 Apr 25;146(1):236-47. doi: 10.1016/j.neuroscience.2007.01.038. Epub 2007 Feb 27. Neuroscience. 2007. PMID: 17331656
Whole-exome sequencing in amyotrophic lateral sclerosis suggests NEK1 is a risk gene in Chinese.
Gratten J, Zhao Q, Benyamin B, Garton F, He J, Leo PJ, Mangelsdorf M, Anderson L, Zhang ZH, Chen L, Chen XD, Cremin K, Deng HW, Edson J, Han YY, Harris J, Henders AK, Jin ZB, Li Z, Lin Y, Liu X, Marshall M, Mowry BJ, Ran S, Reutens DC, Song S, Tan LJ, Tang L, Wallace RH, Wheeler L, Wu J, Yang J, Xu H, Visscher PM, Bartlett PF, Brown MA, Wray NR, Fan D. Gratten J, et al. Among authors: mangelsdorf m. Genome Med. 2017 Nov 17;9(1):97. doi: 10.1186/s13073-017-0487-0. Genome Med. 2017. PMID: 29149916 Free PMC article.
32 results