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Items: 5

1.

Jumonji domain containing 1C (JMJD1C) sequence variants in seven patients with autism spectrum disorder, intellectual disability and seizures.

Slavotinek A, van Hagen JM, Kalsner L, Pai S, Davis-Keppen L, Ohden L, Weber YG, Macke EL, Klee EW, Morava E, Gunderson L, Person R, Liu S, Weiss M.

Eur J Med Genet. 2020 Jan 16:103850. doi: 10.1016/j.ejmg.2020.103850. [Epub ahead of print]

PMID:
31954878
2.

Loss of Chondroitin Sulfate Modification Causes Inflammation and Neurodegeneration in skt Mice.

Macke EL, Henningsen E, Jessen E, Zumwalde NA, Landowski M, Western DE, Lee WH, Liu C, Gruenke NP, Doebley AL, Miller S, Pattnaik B, Ikeda S, Gumperz JE, Ikeda A.

Genetics. 2020 Jan;214(1):121-134. doi: 10.1534/genetics.119.302834. Epub 2019 Nov 21.

3.

Mouse Tmem135 mutation reveals a mechanism involving mitochondrial dynamics that leads to age-dependent retinal pathologies.

Lee WH, Higuchi H, Ikeda S, Macke EL, Takimoto T, Pattnaik BR, Liu C, Chu LF, Siepka SM, Krentz KJ, Rubinstein CD, Kalejta RF, Thomson JA, Mullins RF, Takahashi JS, Pinto LH, Ikeda A.

Elife. 2016 Nov 15;5. pii: e19264. doi: 10.7554/eLife.19264.

4.

Genetic basis of age-dependent synaptic abnormalities in the retina.

Higuchi H, Macke EL, Lee WH, Miller SA, Xu JC, Ikeda S, Ikeda A.

Mamm Genome. 2015 Feb;26(1-2):21-32. doi: 10.1007/s00335-014-9546-7. Epub 2014 Oct 2.

5.

Additive effect of TAp63 deficiency on the adrenocortical dysplasia (acd) phenotype.

O'Connor BC, Macke EL, Keegan CE.

Mamm Genome. 2011 Dec;22(11-12):714-21. doi: 10.1007/s00335-011-9360-4. Epub 2011 Oct 22.

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