Fang F - Search Results

1

Identification and characterization of novel MPC1 gene variants causing mitochondrial pyruvate carrier deficiency.

Jiang H, Alahmad A, Fu S, Fu X, Liu Z, Han X, Li L, Song T, Xu M, Liu S, Wang J, Albash B, Alaqeel A, Catalina V, Prokisch H, Taylor RW, McFarland R, Fang F. Jiang H, et al. Among authors: fang f. J Inherit Metab Dis. 2022 Mar;45(2):264-277. doi: 10.1002/jimd.12462. Epub 2022 Jan 8. J Inherit Metab Dis. 2022. PMID: 34873722

2

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: fang f. 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.

3

Developmental and Epileptic Encephalopathy 76: Case Report and Review of Literature.

Han X, Deng J, Chen C, Wang X, Fang F, Li H, Luo J, Wu J. Han X, et al. Among authors: fang f. Children (Basel). 2022 Dec 15;9(12):1967. doi: 10.3390/children9121967. Children (Basel). 2022. PMID: 36553410 Free PMC article.

4

De novo frameshift variant in MT-ND1 causes a mitochondrial complex I deficiency associated with MELAS syndrome.

Lou X, Zhou Y, Liu Z, Xie Y, Zhang L, Zhao S, Gong S, Zhuo X, Wang J, Dai L, Ren X, Tong X, Jiang L, Fang H, Fang F, Lyu J. Lou X, et al. Among authors: fang f, fang h. Gene. 2023 Apr 15;860:147229. doi: 10.1016/j.gene.2023.147229. Epub 2023 Jan 27. Gene. 2023. PMID: 36717040

5

Long-term effectiveness and tolerability of ketogenic diet therapy in patients with genetic developmental and epileptic encephalopathy onset within the first 6 months of life.

Song T, Deng J, Chen C, Wang X, Han T, Wang X, Fang T, Tian X, Fang F. Song T, et al. Among authors: fang t, fang f. Epilepsia Open. 2024 Apr;9(2):643-652. doi: 10.1002/epi4.12899. Epub 2024 Jan 18. Epilepsia Open. 2024. PMID: 38235958 Free PMC article.

6

Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant.

Blickhäuser B, Stenton SL, Neuhofer CM, Floride E, Nesbitt V, Fratter C, Koch J, Kauffmann B, Catarino C, Schlieben LD, Kopajtich R, Carelli V, Sadun AA, McFarland R, Fang F, La Morgia C, Paquay S, Nassogne MC, Ghezzi D, Lamperti C, Wortmann S, Poulton J, Klopstock T, Prokisch H. Blickhäuser B, et al. Among authors: fang f. Brain. 2024 Mar 13:awae057. doi: 10.1093/brain/awae057. Online ahead of print. Brain. 2024. PMID: 38478578

7

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: fang f. Ann Neurol. 2021 Nov;90(5):738-750. doi: 10.1002/ana.26228. Epub 2021 Oct 14. Ann Neurol. 2021. PMID: 34564892

8

Acute liver failure associated with lamotrigine in children with epilepsy: A report of two cases and thoughts on pharmacogenomics.

Deng J, Fu ZR, Wang L, Liu J, Chen CH, Fang F, Wang XL. Deng J, et al. Among authors: fang f. Epilepsy Behav Rep. 2022 Oct 19;20:100568. doi: 10.1016/j.ebr.2022.100568. eCollection 2022. Epilepsy Behav Rep. 2022. PMID: 36345310 Free PMC article.

9

Generation of a human iPSC line BCHNCi001-A from a patient with uridine-responsive epileptic encephalopathy carrying biallelic CAD mutations.

Zhou L, Xu H, Wu Y, Fang F. Zhou L, et al. Among authors: fang f. Stem Cell Res. 2022 Dec;65:102947. doi: 10.1016/j.scr.2022.102947. Epub 2022 Oct 17. Stem Cell Res. 2022. PMID: 36283272 Free article.

10

Genetic analysis and clinical significance of a rare t(1;12)(q21;p13) in a patient with high-risk myelodysplastic syndrome.

Fang F, Jia R, Liu C, Zhao H, Sun W. Fang F, et al. Mol Genet Genomic Med. 2022 Apr;10(4):e1893. doi: 10.1002/mgg3.1893. Epub 2022 Feb 22. Mol Genet Genomic Med. 2022. PMID: 35192745 Free PMC article.

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