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Adult-onset very-long-chain acyl-CoA dehydrogenase deficiency (VLCADD).
Fatehi F, Okhovat AA, Nilipour Y, Mroczek M, Straub V, Töpf A, Palibrk A, Peric S, Rakocevic Stojanovic V, Najmabadi H, Nafissi S. Fatehi F, et al. Eur J Neurol. 2020 Nov;27(11):2257-2266. doi: 10.1111/ene.14402. Epub 2020 Jul 24. Eur J Neurol. 2020. PMID: 32558070 Free PMC article.
Dominant stop-loss HNRNPA1 variants in juvenile-onset myopathy.
Turner J, Bruels CC, Daugherty AL, Estrella EA, Stafki S, Syeda SB, Littel HR, Pais L, Ganesh VS, Lidov HGW, Paine SML, Maddison P, Harrison RE, Straub V, Ghosh PS, Pacak CA, Kunkel LM, Draper I, Topf A, Kang PB. Turner J, et al. Muscle Nerve. 2024 Oct;70(4):843-850. doi: 10.1002/mus.28214. Epub 2024 Jul 28. Muscle Nerve. 2024. PMID: 39072769
POPDC3 Gene Variants Associate with a New Form of Limb Girdle Muscular Dystrophy.
Vissing J, Johnson K, Töpf A, Nafissi S, Díaz-Manera J, French VM, Schindler RF, Sarathchandra P, Løkken N, Rinné S, Freund M, Decher N, Müller T, Duno M, Krag T, Brand T, Straub V. Vissing J, et al. Ann Neurol. 2019 Dec;86(6):832-843. doi: 10.1002/ana.25620. Epub 2019 Oct 28. Ann Neurol. 2019. PMID: 31610034