Amena Fine

Research output

Research output per year 2019 2019 2022 2023

• 5 Article
• 3 Review article

Research output per year

Research output per year

Search results

• 2023

  Mutations in DARS2 result in global dysregulation of mRNA metabolism and splicing

  Guang, S., O’Brien, B. M., Fine, A. S., Ying, M., Fatemi, A. & Nemeth, C. L., Dec 2023, In: Scientific reports. 13, 1, 13042.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Organoids 100%
  • Exons 52%
  • Messenger RNA 43%
  • Induced Pluripotent Stem Cells 43%
  • Mutation 42%
• 2022

  Functional analysis of missense DARS2 variants in siblings with leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

  Wongkittichote, P., Magistrati, M., Shimony, J. S., Smyser, C. D., Fatemi, S. A., Fine, A. S., Bellacchio, E., Dallabona, C. & Shinawi, M., Aug 2022, In: Molecular genetics and metabolism. 136, 4, p. 260-267 8 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Leukoencephalopathies 100%
  • Cord 92%
  • Developmental 91%
  • Lactate 76%
  • Aspartate-tRNA Ligase 69%

• Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

  Kayumi, S., Pérez-Jurado, L. A., Palomares, M., Rangu, S., Sheppard, S. E., Chung, W. K., Kruer, M. C., Kharbanda, M., Amor, D. J., McGillivray, G., Cohen, J. S., García-Miñaúr, S., van Eyk, C. L., Harper, K., Jolly, L. A., Webber, D. L., Barnett, C. P., Santos-Simarro, F., Pacio-Míguez, M., Pozo, A. D., & 55 othersBakhtiari, S., Deardorff, M., Dubbs, H. A., Izumi, K., Grand, K., Gray, C., Mark, P. R., Bhoj, E. J., Li, D., Ortiz-Gonzalez, X. R., Keena, B., Zackai, E. H., Goldberg, E. M., Perez de Nanclares, G., Pereda, A., Llano-Rivas, I., Arroyo, I., Fernández-Cuesta, M. Á., Thauvin-Robinet, C., Faivre, L., Garde, A., Mazel, B., Bruel, A. L., Tress, M. L., Brilstra, E., Fine, A. S., Crompton, K. E., Stegmann, A. P. A., Sinnema, M., Stevens, S. C. J., Nicolai, J., Lesca, G., Lion-François, L., Haye, D., Chatron, N., Piton, A., Nizon, M., Cogne, B., Srivastava, S., Bassetti, J., Muss, C., Gripp, K. W., Procopio, R. A., Millan, F., Morrow, M. M., Assaf, M., Moreno-De-Luca, A., Joss, S., Hamilton, M. J., Bertoli, M., Foulds, N., McKee, S., MacLennan, A. H., Gecz, J. & Corbett, M. A., Nov 2022, In: Genetics in Medicine. 24, 11, p. 2351-2366 16 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Neurodevelopmental Disorders 100%
  • Cerebral Palsy 89%
  • Phenotype 25%
  • Genetic Databases 18%
  • Genetic Testing 14%

• Reduction in school individualized education program (IEP) services during the COVID-19 pandemic

  Chen, B., Rasmussen, P., Legg, M., Alexander, N., Vedmurthy, P., Asiedu, A., Bay, M., Belcher, H., Burton, V. J., Conlon, C., Fine, A., Gill, R., Lance, E. I., Lipkin, P., Wong, J., Wilms Floet, A. M., Doerrer, S. C., Glattfelder, J., Kordek, A., Pertman, J., & 4 othersMurray, R., Zabel, T. A., Comi, A. M. & Leppert, M. L., 2022, In: Frontiers in Rehabilitation Sciences. 3, 962893.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Pandemics 100%
  • Special Education 94%
  • Education 59%
  • Students 37%
  • Disabled Children 32%
• 2020

  Neuronal ablation of mt-AspRS in mice induces immune pathway activation prior to severe and progressive cortical and behavioral disruption

  Nemeth, C. L., Tomlinson, S. N., Rosen, M., O'Brien, B. M., Larraza, O., Jain, M., Murray, C. F., Marx, J. S., Delannoy, M., Fine, A. S., Wu, D., Trifunovic, A. & Fatemi, A., Apr 2020, In: Experimental Neurology. 326, 113164.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation 100%
  • Aspartate-tRNA Ligase 83%
  • Activation Analysis 64%
  • Leukoencephalopathies 60%
  • Phenotype 54%