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Titin related myopathy with ophthalmoplegia. A novel phenotype.
Alawneh I, Yuki KE, Amburgey K, Yoon G, Dowling JJ, Hazrati LN, Gonorazky H. Alawneh I, et al. Among authors: yoon g. Neuromuscul Disord. 2023 Jul;33(7):605-609. doi: 10.1016/j.nmd.2023.05.003. Epub 2023 May 13. Neuromuscul Disord. 2023. PMID: 37393749
Bi-allelic mutations of LONP1 encoding the mitochondrial LonP1 protease cause pyruvate dehydrogenase deficiency and profound neurodegeneration with progressive cerebellar atrophy.
Nimmo GAM, Venkatesh S, Pandey AK, Marshall CR, Hazrati LN, Blaser S, Ahmed S, Cameron J, Singh K, Ray PN, Suzuki CK, Yoon G. Nimmo GAM, et al. Among authors: yoon g. Hum Mol Genet. 2019 Jan 15;28(2):290-306. doi: 10.1093/hmg/ddy351. Hum Mol Genet. 2019. PMID: 30304514 Free PMC article.
Triple A syndrome presenting as complicated hereditary spastic paraplegia.
Leveille E, Gonorazky HD, Rioux MF, Hazrati LN, Ruskey JA, Carnevale A, Spiegelman D, Dionne-Laporte A, Rouleau GA, Yoon G, Gan-Or Z. Leveille E, et al. Among authors: yoon g. Mol Genet Genomic Med. 2018 Nov;6(6):1134-1139. doi: 10.1002/mgg3.492. Epub 2018 Oct 31. Mol Genet Genomic Med. 2018. PMID: 30381913 Free PMC article.
1,039 results