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The m.9143T>C Variant: Recurrent Infections and Immunodeficiency as an Extension of the Phenotypic Spectrum in MT-ATP6 Mutations?
Diseases. 2020 Jun 9;8(2):19. doi: 10.3390/diseases8020019.
Diseases. 2020.
PMID: 32527054
Free PMC article.
Heteroplasmy and Copy Number in the Common m.3243A>G Mutation-A Post-Mortem Genotype-Phenotype Analysis.
Scholle LM, Zierz S, Mawrin C, Wickenhauser C, Urban DL.
Scholle LM, et al.
Genes (Basel). 2020 Feb 18;11(2):212. doi: 10.3390/genes11020212.
Genes (Basel). 2020.
PMID: 32085658
Free PMC article.
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GFPT1-Associated Congenital Myasthenic Syndrome Mimicking a Glycogen Storage Disease - Diagnostic Pitfalls in Myopathology Solved by Next-Generation-Sequencing.
Mensch A, Cordts I, Scholle L, Joshi PR, Kleeberg K, Emmer A, Beck-Woedl S, Park J, Haack TB, Stoltenburg-Didinger G, Zierz S, Deschauer M.
Mensch A, et al.
J Neuromuscul Dis. 2022;9(4):533-541. doi: 10.3233/JND-220822.
J Neuromuscul Dis. 2022.
PMID: 35694932
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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.
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
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FGF-21 as a Potential Biomarker for Mitochondrial Diseases.
Scholle LM, Lehmann D, Deschauer M, Kraya T, Zierz S.
Scholle LM, et al.
Curr Med Chem. 2018;25(18):2070-2081. doi: 10.2174/0929867325666180111094336.
Curr Med Chem. 2018.
PMID: 29332568
Review.
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The Mitochondrial Biomarkers FGF-21 and GDF-15 in Patients with Episodic and Chronic Migraine.
Burow P, Haselier M, Naegel S, Scholle LM, Gaul C, Kraya T.
Burow P, et al. Among authors: scholle lm.
Cells. 2021 Sep 18;10(9):2471. doi: 10.3390/cells10092471.
Cells. 2021.
PMID: 34572118
Free PMC article.
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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.
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Normal Thermostability of p.Ser113Leu and p.Arg631Cys Variants of Mitochondrial Carnitine Palmitoyltransferase II (CPT II) in Human Muscle Homogenate.
Joshi PR, Gräfin Zu Stolberg-Stolberg M, Scholle LM, Meinhardt B, Pegoraro E, Zierz S.
Joshi PR, et al. Among authors: scholle lm.
Metabolites. 2022 Nov 19;12(11):1141. doi: 10.3390/metabo12111141.
Metabolites. 2022.
PMID: 36422281
Free PMC article.
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