PMC Articles for MedGen (Select 1845294) - PMC

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Items: 5

Select item 95540851.

DNAJC30 disease-causing gene variants in a large Central European cohort of patients with suspected Leber’s hereditary optic neuropathy and optic atrophy

Sinja Kieninger, Ting Xiao, Nicole Weisschuh, Susanne Kohl, Klaus Rüther, Peter Michael Kroisel, Tobias Brockmann, Steffi Knappe, Ulrich Kellner, Wolf Lagrèze, Pascale Mazzola, Tobias B Haack, Bernd Wissinger, Felix Tonagel

J Med Genet. 2022 Oct; 59(10): 1027–1034. Published online 2022 Jan 28. doi: 10.1136/jmedgenet-2021-108235

PMCID:: PMC9554085

Abstract Article PDF–1.3M

Select item 87451582.

Mitochondrial Retinopathies

Massimo Zeviani, Valerio Carelli

Int J Mol Sci. 2022 Jan; 23(1): 210. Published online 2021 Dec 25. doi: 10.3390/ijms23010210

PMCID:: PMC8745158

Abstract Article PDF–14M

Select item 74228183.

Mutation Screening of mtDNA Combined Targeted Exon Sequencing in a Cohort With Suspected Hereditary Optic Neuropathy

Jian-Kang Li, Wei Li, Feng-Juan Gao, Shou-Fang Qu, Fang-Yuan Hu, Sheng-Hai Zhang, Li-Li Li, Zi-Wei Wang, Yong Qiu, Lu-Sheng Wang, Jie Huang, Ji-Hong Wu, Fang Chen

Transl Vis Sci Technol. 2020 Jul; 9(8): 11. Published online 2020 Jul 8. doi: 10.1167/tvst.9.8.11