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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2019 | 1 |
2022 | 3 |
2023 | 1 |
2024 | 0 |
Search Results
5 results
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Page 1
Mutations in DARS2 result in global dysregulation of mRNA metabolism and splicing.
Res Sq [Preprint]. 2023 Feb 27:rs.3.rs-2603446. doi: 10.21203/rs.3.rs-2603446/v1.
Res Sq. 2023.
PMID: 36909591
Free PMC article.
Updated.
Preprint.
Antisense Oligonucleotide Therapy for the Nervous System: From Bench to Bedside with Emphasis on Pediatric Neurology.
Amanat M, Nemeth CL, Fine AS, Leung DG, Fatemi A.
Amanat M, et al. Among authors: fine as.
Pharmaceutics. 2022 Nov 5;14(11):2389. doi: 10.3390/pharmaceutics14112389.
Pharmaceutics. 2022.
PMID: 36365206
Free PMC article.
Review.
Item in Clipboard
Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants.
Kayumi S, Pérez-Jurado LA, Palomares M, Rangu S, Sheppard SE, Chung WK, Kruer MC, Kharbanda M, Amor DJ, McGillivray G, Cohen JS, García-Miñaúr S, van Eyk CL, Harper K, Jolly LA, Webber DL, Barnett CP, Santos-Simarro F, Pacio-Míguez M, Pozo AD, Bakhtiari S, Deardorff M, Dubbs HA, Izumi K, Grand K, Gray C, Mark PR, Bhoj EJ, Li D, Ortiz-Gonzalez XR, Keena B, Zackai EH, Goldberg EM, Perez de Nanclares G, Pereda A, Llano-Rivas I, Arroyo I, Fernández-Cuesta MÁ, Thauvin-Robinet C, Faivre L, Garde A, Mazel B, Bruel AL, Tress ML, Brilstra E, Fine AS, Crompton KE, Stegmann APA, Sinnema M, Stevens SCJ, Nicolai J, Lesca G, Lion-François L, Haye D, Chatron N, Piton A, Nizon M, Cogne B, Srivastava S, Bassetti J, Muss C, Gripp KW, Procopio RA, Millan F, Morrow MM, Assaf M, Moreno-De-Luca A, Joss S, Hamilton MJ, Bertoli M, Foulds N, McKee S, MacLennan AH, Gecz J, Corbett MA.
Kayumi S, et al. Among authors: fine as.
Genet Med. 2022 Nov;24(11):2351-2366. doi: 10.1016/j.gim.2022.08.006. Epub 2022 Sep 9.
Genet Med. 2022.
PMID: 36083290
Free PMC article.
Item in Clipboard
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.
Smith Fine A, et al.
Ann Clin Transl Neurol. 2022 Apr;9(4):468-477. doi: 10.1002/acn3.51509. Epub 2022 Mar 8.
Ann Clin Transl Neurol. 2022.
PMID: 35257509
Free PMC article.
Item in Clipboard
Mitochondrial aminoacyl-tRNA synthetase disorders: an emerging group of developmental disorders of myelination.
Fine AS, Nemeth CL, Kaufman ML, Fatemi A.
Fine AS, et al.
J Neurodev Disord. 2019 Dec 16;11(1):29. doi: 10.1186/s11689-019-9292-y.
J Neurodev Disord. 2019.
PMID: 31839000
Free PMC article.
Review.
Item in Clipboard
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