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Sulthiame impairs mitochondrial function in vitro and may trigger onset of visual loss in Leber hereditary optic neuropathy

2021 . Reinert, Marie-Christine | Pacheu-Grau, David | Catarino, Claudia B. | Klopstock, Thomas | Ohlenbusch, Andreas | Schittkowski, Michael | Wilichowski, Ekkehard | Rehling, Peter | Brockmann, Knut

Oligosarcomas, IDH-mutant are distinct and aggressive

A unique role of p53 haploinsufficiency or loss in the development of acute myeloid leukemia with FLT3-ITD mutation

Genetic alterations in Thai adult patients with acute myeloid leukemia and myelodysplastic syndrome—excess blasts detected by next-generation sequencing technique

2021 . Owattanapanich, Weerapat | Herzig, Julia | Jahn, Nikolaus | Panina, Ekaterina | Ruchutrakool, Theera | Kungwankiattichai, Smith | Issaragrisil, Surapol | Döhner, Hartmut | Döhner, Konstanze

BRAF V600E mutation is associated with aggressive features in papillary thyroid carcinomas ≤ 1.5 cm

2021 . Silver, Jennifer | Bogatchenko, Mariya | Pusztaszeri, Marc | Forest, Véronique-Isabelle | Hier, Michael P. | Yang, Ji Wei | Tamilia, Michael | Payne, Richard J.

Clinico-genetic findings in 509 frontotemporal dementia patients

Pubertal development in 46,XY patients with NR5A1 mutations

2021 . Mönig, Isabel | Hoppmann, Julia | Johannsen, Trine Holm | Juul, Anders | Werner, Ralf | Lünstedt, Ralf | Birnbaum, Wiebke | Marshall, Louise | Wünsch, Lutz | Hiort, Olaf

Smoking and alcohol, health-related quality of life and psychiatric comorbidities in Leber’s Hereditary Optic Neuropathy mutation carriers: a prospective cohort study

2021 . , Andrea | Catarino, Claudia B. | Rampeltshammer, Verena | Schindler, David | Gallenmüller, Constanze | Priglinger, Claudia | Pogarell, Oliver | Rüther, Tobias | Klopstock, Thomas

Catalytic activity and stereoselectivity of engineered phosphotriesterases towards structurally different nerve agents in vitro

2021 . Köhler, Anja | Escher, Benjamin | Job, Laura | Koller, Marianne | Thiermann, Horst | Skerra, Arne | Worek, Franz

FUS mutations dominate TBK1 mutations in FUS/TBK1 double-mutant ALS/FTD pedigrees

2021 . Brenner, David | Müller, Kathrin | Lattante, Serena | Yilmaz, Rüstem | Knehr, Antje | Freischmidt, Axel | Ludolph, Albert C. | Andersen, Peter M. | Weishaupt, Jochen H.

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