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1.	Gervasoni, Jacopo, et al. (författare) Fourier-Transform Infrared Spectroscopy of Skeletal Muscle Tissue : Expanding Biomarkers in Primary Mitochondrial Myopathies 2020 Ingår i: Genes. - : MDPI AG. - 2073-4425. ; 11:12 Tidskriftsartikel (refereegranskat)abstract Primary mitochondrial myopathies (PMM) are a group of mitochondrial disorders characterized by a predominant skeletal muscle involvement. The aim of this study was to evaluate whether the biochemical profile determined by Fourier-transform infrared (FTIR) spectroscopic technique would allow to distinguish among patients affected by progressive external ophthalmoplegia (PEO), the most common PMM presentation, oculopharyngeal muscular dystrophy (OPMD), and healthy controls. Thirty-four participants were enrolled in the study. FTIR spectroscopy was found to be a sensitive and specific diagnostic marker for PEO. In particular, FTIR spectroscopy was able to distinguish PEO patients from those affected by OPMD, even in the presence of histological findings similar to mitochondrial myopathy. At the same time, FTIR spectroscopy differentiated single mtDNA deletion and mutations in POLG, the most common nuclear gene associated with mitochondrial diseases, with high sensitivity and specificity. In conclusion, our data suggest that FTIR spectroscopy is a valuable biodiagnostic tool for the differential diagnosis of PEO with a high ability to also distinguish between single mtDNA deletion and mutations in POLG gene based on specific metabolic transitions.
2.	Hasselblatt, Martin, et al. (författare) Low-grade diffusely infiltrative tumour (LGDIT), SMARCB1-mutant : A clinical and histopathological distinct entity showing epigenetic similarity with ATRT-MYC 2022 Ingår i: Neuropathology and Applied Neurobiology. - : John Wiley & Sons. - 0305-1846 .- 1365-2990. ; 48:4 Tidskriftsartikel (refereegranskat)abstract Low-grade diffusely infiltrative tumour (LGDIT), SMARCB1-mutant, is a histopathological distinct low-grade lesion encountered in older children and young adults that shows epigenetic similarity with ATRT-MYC and has the potential for malignant progression.

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Typ av publikation: tidskriftsartikel (2)

Typ av innehåll: refereegranskat (2)

Författare/redaktör: Casar Borota, Oliver ... (1); Siebert, Reiner (1); Kool, Marcel (1); Hellström, Mats (1); Hartmann, Christian (1); Calvani, Riccardo (1); visa fler...; Marzetti, Emanuele (1); Picca, Anna (1); Gervasoni, Jacopo (1); Primiano, Aniello (1); Marini, Federico (1); Sabino, Andrea (1); Biancolillo, Alessan ... (1); Persichilli, Silvia (1); Urbani, Andrea (1); Servidei, Serenella (1); Primiano, Guido (1); Hasselblatt, Martin (1); Fruehwald, Michael C ... (1); Paulus, Werner (1); Thomas, Christian (1); Federico, Aniello (1); Bens, Susanne (1); Kordes, Uwe (1); Neumann, Julia E. (1); Dottermusch, Matthia ... (1); Rodriguez, Fausto J. (1); Lo, Andrea C. (1); Cheng, Sylvia (1); Hendson, Glenda (1); Hukin, Juliette (1); Koch, Arend (1); Capper, David (1); Nemes, Karolina (1); Johann, Pascal D. (1); visa färre...

Lärosäte: Uppsala universitet (1); Stockholms universitet (1); Karolinska Institutet (1)

Språk: Engelska (2)

Forskningsämne (UKÄ/SCB): Medicin och hälsovetenskap (2)

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