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Did you mean hua feng jiang[Author] (4 results)?
TRIT1 defect leads to a recognizable phenotype of myoclonic epilepsy, speech delay, strabismus, progressive spasticity, and normal lactate levels.
Muylle E, Jiang H, Johnsen C, Byeon SK, Ranatunga W, Garapati K, Zenka RM, Preston G, Pandey A, Kozicz T, Fang F, Morava E. Muylle E, et al. Among authors: jiang h. J Inherit Metab Dis. 2022 Nov;45(6):1039-1047. doi: 10.1002/jimd.12550. Epub 2022 Sep 21. J Inherit Metab Dis. 2022. PMID: 36047296 Free PMC article. Review.
Dominant KPNA3 Mutations Cause Infantile-Onset Hereditary Spastic Paraplegia.
Schob C, Hempel M, Safka Brozkova D, Jiang H, Kim SY, Batzir NA, Orenstein N, Bierhals T, Johannsen J, Uhrova Meszarosova A, Chae JH, Seeman P, Woidy M, Fang F, Kubisch C, Kindler S, Denecke J. Schob C, et al. Among authors: jiang h. Ann Neurol. 2021 Nov;90(5):738-750. doi: 10.1002/ana.26228. Epub 2021 Oct 14. Ann Neurol. 2021. PMID: 34564892
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