Research output per year
Research output per year
Search results
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2024
International validation of meaningfulness of postural sway and gait to assess myeloneuropathy in adults with adrenoleukodystrophy
Yska, H. A. F., Turk, B. R., Fatemi, A., Goodman, J., Voermans, M., Amos, D., Amanat, M., van de Stadt, S., Engelen, M., Smith-Fine, A. & Keller, J., 2024, (Accepted/In press) In: Journal of Inherited Metabolic Disease.Research output: Contribution to journal › Article › peer-review
Open Access -
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 -
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 -
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 others, , Nov 2022, In: Genetics in Medicine. 24, 11, p. 2351-2366 16 p.Research output: Contribution to journal › Article › peer-review
Open Access -
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 others, , 2022, In: Frontiers in Rehabilitation Sciences. 3, 962893.Research output: Contribution to journal › Article › peer-review
Open Access -
Wearable sensors detect impaired gait and coordination in LBSL during remote assessments
Smith Fine, A., Kaufman, M., Goodman, J., Turk, B., Bastian, A., Lin, D., Fatemi, A. & Keller, J., Apr 2022, In: Annals of Clinical and Translational Neurology. 9, 4, p. 468-477 10 p.Research output: Contribution to journal › Article › peer-review
Open Access -
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