Wang J - 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: wang j. 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

Whole exome sequencing identifies a novel homozygous MECR mutation in a Chinese patient with childhood-onset dystonia and basal ganglia abnormalities, without optic atrophy.

Liu Z, Shimura M, Zhang L, Zhang W, Wang J, Ogawa-Tominaga M, Wang J, Wang X, Lv J, Shi W, Zhang VW, Murayama K, Fang F. Liu Z, et al. Among authors: wang x, wang j. Mitochondrion. 2021 Mar;57:222-229. doi: 10.1016/j.mito.2020.12.014. Epub 2021 Jan 2. Mitochondrion. 2021. PMID: 33401012 Free article.

3

Cinical, Metabolic, and Genetic Analysis and Follow-Up of Eight Patients With HIBCH Mutations Presenting With Leigh/Leigh-Like Syndrome.

Wang J, Liu Z, Xu M, Han X, Ren C, Yang X, Zhang C, Fang F. Wang J, et al. Front Pharmacol. 2021 Mar 8;12:605803. doi: 10.3389/fphar.2021.605803. eCollection 2021. Front Pharmacol. 2021. PMID: 33762937 Free PMC article.

4

Identification of a Novel Variant in MT-CO3 Causing MELAS.

Xu M, Kopajtich R, Elstner M, Wang Z, Liu Z, Wang J, Prokisch H, Fang F. Xu M, et al. Among authors: wang z, wang j. Front Genet. 2021 May 12;12:638749. doi: 10.3389/fgene.2021.638749. eCollection 2021. Front Genet. 2021. PMID: 34054915 Free PMC article.

5

Corrigendum: Cinical, Metabolic, and Genetic Analysis and Follow-Up of Eight Patients With HIBCH Mutations Presenting With Leigh/Leigh-Like Syndrome.

Wang J, Liu Z, Xu M, Han X, Ren C, Yang X, Zhang C, Fang F. Wang J, et al. Front Pharmacol. 2021 Jun 10;12:686933. doi: 10.3389/fphar.2021.686933. eCollection 2021. Front Pharmacol. 2021. PMID: 34177596 Free PMC article.

6

Report of the Largest Chinese Cohort With SLC19A3 Gene Defect and Literature Review.

Wang J, Wang J, Han X, Liu Z, Ma Y, Chen G, Zhang H, Sun D, Xu R, Liu Y, Zhang Y, Wen Y, Bao X, Chen Q, Fang F. Wang J, et al. Front Genet. 2021 Jul 1;12:683255. doi: 10.3389/fgene.2021.683255. eCollection 2021. Front Genet. 2021. PMID: 34276785 Free PMC article. Review.

7

Biallelic COA7-Variants Leading to Developmental Regression With Progressive Spasticity and Brain Atrophy in a Chinese Patient.

Ban R, Liu Z, Shimura M, Tong X, Wang J, Yang L, Xu M, Xiao J, Murayama K, Elstner M, Prokisch H, Fang F. Ban R, et al. Among authors: wang j. Front Genet. 2021 Jul 12;12:685035. doi: 10.3389/fgene.2021.685035. eCollection 2021. Front Genet. 2021. PMID: 34322155 Free PMC article.

8

Identification of a novel m.3955G > A variant in MT-ND1 associated with Leigh syndrome.

Xu M, Kopajtich R, Elstner M, Li H, Liu Z, Wang J, Prokisch H, Fang F. Xu M, et al. Among authors: wang j. Mitochondrion. 2022 Jan;62:13-23. doi: 10.1016/j.mito.2021.10.002. Epub 2021 Oct 14. Mitochondrion. 2022. PMID: 34656796

9

Phenotypes and genotypes of mitochondrial diseases with mtDNA variations in Chinese children: A multi-center study.

Shi Y, Chen G, Sun D, Hu C, Liu Z, Shen D, Wang J, Song T, Zhang W, Li J, Ren X, Han T, Ding C, Wang Y, Fang F. Shi Y, et al. Among authors: wang j, wang y. Mitochondrion. 2022 Jan;62:139-150. doi: 10.1016/j.mito.2021.11.006. Epub 2021 Nov 17. Mitochondrion. 2022. PMID: 34800692

10

Leigh Syndrome: A Study of 209 Patients at the Beijing Children's Hospital.

Stenton SL, Zou Y, Cheng H, Liu Z, Wang J, Shen D, Jin H, Ding C, Tang X, Sun S, Han H, Ma Y, Zhang W, Jin R, Wang H, Sun D, Lv JL, Prokisch H, Fang F. Stenton SL, et al. Among authors: wang h, wang j. Ann Neurol. 2022 Apr;91(4):466-482. doi: 10.1002/ana.26313. Epub 2022 Mar 6. Ann Neurol. 2022. PMID: 35094435

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