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Page 1
Quantitative whole-body muscle MRI in idiopathic inflammatory myopathies including polymyositis with mitochondrial pathology: indications for a disease spectrum.
Zierer LK, Naegel S, Schneider I, Kendzierski T, Kleeberg K, Koelsch AK, Scholle L, Schaefer C, Naegel A, Zierz S, Otto M, Stoltenburg-Didinger G, Kraya T, Stoevesandt D, Mensch A. Zierer LK, et al. Among authors: scholle l. J Neurol. 2024 Jun;271(6):3186-3202. doi: 10.1007/s00415-024-12191-w. Epub 2024 Mar 5. J Neurol. 2024. PMID: 38438820 Free PMC article.
Expanding the phenotypic and biochemical spectrum of NDUFAF3-related mitochondrial disease.
van der Ven AT, Cabrera-Orefice A, Wente I, Feichtinger RG, Tsiakas K, Weiss D, Bierhals T, Scholle L, Prokisch H, Kopajtich R, Santer R, Mayr JA, Hempel M, Wittig I. van der Ven AT, et al. Among authors: scholle l. Mol Genet Metab. 2023 Nov;140(3):107675. doi: 10.1016/j.ymgme.2023.107675. Epub 2023 Aug 4. Mol Genet Metab. 2023. PMID: 37572574
Bi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephaly.
Klöckner C, Fernández-Murray JP, Tavasoli M, Sticht H, Stoltenburg-Didinger G, Scholle LM, Bakhtiari S, Kruer MC, Darvish H, Firouzabadi SG, Pagnozzi A, Shukla A, Girisha KM, Narayanan DL, Kaur P, Maroofian R, Zaki MS, Noureldeen MM, Merkenschlager A, Gburek-Augustat J, Cali E, Banu S, Nahar K, Efthymiou S, Houlden H, Jamra RA, Williams J, McMaster CR, Platzer K. Klöckner C, et al. Among authors: scholle lm. Brain. 2022 Jun 30;145(6):1916-1923. doi: 10.1093/brain/awac074. Brain. 2022. PMID: 35202461 Free PMC article.