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Items: 5

1.

Reply: ATAD1 encephalopathy and stiff baby syndrome: a recognizable clinical presentation.

Piard J, Essien Umanah GK, Harms FL, Abalde-Atristain L, Amram D, Chang M, Chen R, Alawi M, Salpietro V, Rees MI, Chung SK, Houlden H, Verloes A, Dawson TM, Dawson VL, Van Maldergem L, Kutsche K.

Brain. 2018 Jun 1;141(6):e50. doi: 10.1093/brain/awy100. No abstract available.

2.

A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy.

Piard J, Umanah GKE, Harms FL, Abalde-Atristain L, Amram D, Chang M, Chen R, Alawi M, Salpietro V, Rees MI, Chung SK, Houlden H, Verloes A, Dawson TM, Dawson VL, Van Maldergem L, Kutsche K.

Brain. 2018 Mar 1;141(3):651-661. doi: 10.1093/brain/awx377.

3.

Abberant protein synthesis in G2019S LRRK2 Drosophila Parkinson disease-related phenotypes.

Martin I, Abalde-Atristain L, Kim JW, Dawson TM, Dawson VL.

Fly (Austin). 2014;8(3):165-9. doi: 10.4161/19336934.2014.983382.

4.

Efficient and allele-specific genome editing of disease loci in human iPSCs.

Smith C, Abalde-Atristain L, He C, Brodsky BR, Braunstein EM, Chaudhari P, Jang YY, Cheng L, Ye Z.

Mol Ther. 2015 Mar;23(3):570-7. doi: 10.1038/mt.2014.226. Epub 2014 Nov 24.

5.

Whole-genome sequencing analysis reveals high specificity of CRISPR/Cas9 and TALEN-based genome editing in human iPSCs.

Smith C, Gore A, Yan W, Abalde-Atristain L, Li Z, He C, Wang Y, Brodsky RA, Zhang K, Cheng L, Ye Z.

Cell Stem Cell. 2014 Jul 3;15(1):12-3. doi: 10.1016/j.stem.2014.06.011. No abstract available.

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