Human Genome Epidemiology Literature Finder
Records 1 - 5 (of 5 Records) |
Query Trace: Vision and ND1[original query] |
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Genetic and clinical evidence of mitochondrial dysfunction in autism spectrum disorder and intellectual disability. Human molecular genetics 2018 03 27 (5): 891-900. Valiente-Pallejà Alba, Torrell Helena, Muntané Gerard, Cortés Maria J, Martínez-Leal Rafael, Abasolo Nerea, Alonso Yolanda, Vilella Elisabet, Martorell Lourd |
Long-term screening for primary mitochondrial DNA variants associated with Leber hereditary optic neuropathy: incidence, penetrance and clinical features. Mitochondrion 2020 8 54 128-132. Marotta Rosetta, Chin Judy, Chiotis Maria, Shuey Neil, Collins Steven |
Mild Leber hereditary optic neuropathy (LHON) in a Western European family due to the rare Asian m.14502T>C variant in the MT-ND6 gene. Ophthalmic genetics 2021 4 42 (4): 440-445. Vandeputte Justine, Van Heetvelde Mattias, Van Cauwenbergh Caroline, Seneca Sara, De Baere Elfride, Leroy Bart P, De Zaeytijd Jul |
Mutation profile of neurodegenerative mitochondriopathy - LHON in Southern India. Gene 2022 Apr 819 146202. Gowri Poigaialwar, Sathish Ponraj, Mahesh Kumar Shanmugam, Sundaresan Periasa |
Prevalence of primary mutations in Leber hereditary optic neuropathy: A five-year report from a tertiary eye care center in India. Molecular vision 2022 1 27 718-724. Sundaramurthy Srilekha, Selvakumar Ambika, Dharani Vidhya, Soumittra Nagasamy, Mani Jayaprakash, Thirumalai Karthiyayini, Periyasamy Porkodi, Mathavan Sinnakaruppan, Sripriya Sarangapa |
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