PMC Links for Nucleotide (Select 1708260650) - PMC

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Items: 5

Select item 64985851.

Parkinson’s disease-associated LRRK2-G2019S mutant acts through regulation of SERCA activity to control ER stress in astrocytes

Jee Hoon Lee, Ji-hye Han, Hyunmi Kim, Sang Myun Park, Eun-hye Joe, Ilo Jou

Acta Neuropathol Commun. 2019; 7: 68. Published online 2019 May 2. doi: 10.1186/s40478-019-0716-4

PMCID:: PMC6498585

Abstract Article PDF–6.9M

Select item 46784342.

Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type

Mala Isrie, Martin Breuss, Guoling Tian, Andi Harley Hansen, Francesca Cristofoli, Jasmin Morandell, Zachari A. Kupchinsky, Alejandro Sifrim, Celia Maria Rodriguez-Rodriguez, Elena Porta Dapena, Kurston Doonanco, Norma Leonard, Faten Tinsa, Stéphanie Moortgat, Hakan Ulucan, Erkan Koparir, Ender Karaca, Nicholas Katsanis, Valeria Marton, Joris Robert Vermeesch, Erica E. Davis, Nicholas J. Cowan, David Anthony Keays, Hilde Van Esch

Am J Hum Genet. 2015 Dec 3; 97(6): 790–800. Published online 2015 Dec 3. doi: 10.1016/j.ajhg.2015.10.014