Year |
Citation |
Score |
2020 |
Fay AJ, Garcia Y, Margeta M, Maharjan S, Jürgensen C, Briceño J, Garcia M, Yin S, Bassaganyas L, McMahon T, Hou YM, Fu YH, Ptáček LJ. A Mitochondrial tRNA Mutation Causes Axonal CMT in a Large Venezuelan Family. Annals of Neurology. PMID 32715519 DOI: 10.1002/Ana.25854 |
0.499 |
|
2020 |
Fay AJ, Knox R, Neil EE, Strober J. Targeted Treatments for Inherited Neuromuscular Diseases of Childhood. Seminars in Neurology. PMID 32294764 DOI: 10.1055/S-0040-1702940 |
0.313 |
|
2017 |
Rice GI, Kitabayashi N, Barth M, Briggs TA, Burton ACE, Carpanelli ML, Cerisola AM, Colson C, Dale RC, Danti FR, Darin N, De Azua B, De Giorgis V, De Goede CGL, Desguerre I, ... ... Fay A, et al. Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease. Neuropediatrics. 48: 166-184. PMID 28561207 DOI: 10.1055/S-0037-1601449 |
0.391 |
|
2017 |
Rice GI, Kitabayashi N, Barth M, Briggs TA, Burton AC, Carpanelli ML, Cerisola AM, Colson C, Dale RC, Danti FR, Darin N, De Azua B, De Giorgis V, De Goede CG, Desguerre I, ... ... Fay A, et al. Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease. Neuropediatrics. PMID 28395385 DOI: 10.1055/s-0037-1601449 |
0.308 |
|
2016 |
Jenkinson EM, Rodero MP, Kasher PR, Uggenti C, Oojageer A, Goosey LC, Rose Y, Kershaw CJ, Urquhart JE, Williams SG, Bhaskar SS, O'Sullivan J, Baerlocher GM, Haubitz M, Aubert G, ... ... Fay AJ, et al. Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts. Nature Genetics. PMID 27571260 DOI: 10.1038/Ng.3661 |
0.32 |
|
2016 |
Ng BG, Shiryaev SA, Rymen D, Eklund EA, Raymond K, Kircher M, Abdenur JE, Alehan F, Midro AT, Bamshad MJ, Barone R, Berry GT, Brumbaugh JE, Buckingham KJ, Clarkson K, ... ... Fay AJ, et al. ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients. Human Mutation. PMID 26931382 DOI: 10.1002/Humu.22983 |
0.347 |
|
2008 |
Shaw RM, Fay AJ, Puthenveedu MA, von Zastrow M, Jan YN, Jan LY. Microtubule Plus-End-Tracking Proteins Target Gap Junctions Directly from the Cell Interior to Adherens Junctions (DOI:10.1016/j.cell.2006.12.037) Cell. 133: 376. DOI: 10.1016/J.Cell.2008.03.023 |
0.438 |
|
2007 |
Shaw RM, Fay AJ, Puthenveedu MA, von Zastrow M, Jan YN, Jan LY. Microtubule plus-end-tracking proteins target gap junctions directly from the cell interior to adherens junctions. Cell. 128: 547-60. PMID 17289573 DOI: 10.1016/J.Cell.2006.12.037 |
0.445 |
|
2006 |
Fay AJ, Qian X, Jan YN, Jan LY. SK channels mediate NADPH oxidase-independent reactive oxygen species production and apoptosis in granulocytes. Proceedings of the National Academy of Sciences of the United States of America. 103: 17548-53. PMID 17085590 DOI: 10.1073/Pnas.0607914103 |
0.405 |
|
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