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G4C2 Repeat RNA Initiates a POM121-Mediated Reduction in Specific Nucleoporins in C9orf72 ALS/FTD.
Neuron. 2020 Sep 23;107(6):1124-1140.e11. doi: 10.1016/j.neuron.2020.06.027. Epub 2020 Jul 15.
Neuron. 2020.
PMID: 32673563
Free PMC article.
Pathogenic Variants in NUP214 Cause "Plugged" Nuclear Pore Channels and Acute Febrile Encephalopathy.
Fichtman B, Harel T, Biran N, Zagairy F, Applegate CD, Salzberg Y, Gilboa T, Salah S, Shaag A, Simanovsky N, Ayoubieh H, Sobreira N, Punzi G, Pierri CL, Hamosh A, Elpeleg O, Harel A, Edvardson S.
Fichtman B, et al. Among authors: salzberg y.
Am J Hum Genet. 2019 Jul 3;105(1):48-64. doi: 10.1016/j.ajhg.2019.05.003. Epub 2019 Jun 6.
Am J Hum Genet. 2019.
PMID: 31178128
Free PMC article.
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Expanding the phenotype of NUP85 mutations beyond nephrotic syndrome to primary autosomal recessive microcephaly and Seckel syndrome spectrum disorders.
Ravindran E, Jühlen R, Vieira-Vieira CH, Ha T, Salzberg Y, Fichtman B, Luise-Becker L, Martins N, Picker-Minh S, Bessa P, Arts P, Jackson MR, Taranath A, Kamien B, Barnett C, Li N, Tarabykin V, Stoltenburg-Didinger G, Harel A, Selbach M, Dickmanns A, Fahrenkrog B, Hu H, Scott H, Kaindl AM.
Ravindran E, et al. Among authors: salzberg y.
Hum Mol Genet. 2021 Nov 1;30(22):2068-2081. doi: 10.1093/hmg/ddab160.
Hum Mol Genet. 2021.
PMID: 34170319
Free PMC article.
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