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A multifactorial model of pathology for age of onset heterogeneity in familial Alzheimer’s disease

Retinal axonal degeneration in Niemann–Pick type C disease

2020 . Havla, Joachim | Moser, Marlene | Sztatecsny, Clara | Lotz-Havla, Amelie S. | Maier, Esther M. | Hizli, Baccara | Schinner, Regina | Kümpfel, Tania | Strupp, Michael | Bremova-Ertl, Tatiana | Schneider, Susanne A.

Homozygous Smpd1 deficiency aggravates brain ischemia/ reperfusion injury by mechanisms involving polymorphonuclear neutrophils, whereas heterozygous Smpd1 deficiency protects against mild focal cerebral ischemia

2020 . Hagemann, Nina | Mohamud Yusuf, Ayan | Martiny, Carlotta | Zhang, Xiaoni | Kleinschnitz, Christoph | Gunzer, Matthias | Kolesnick, Richard | Gulbins, Erich | Hermann, Dirk M.

Rare heterozygous GDF6 variants in patients with renal anomalies

Maternal and paternal carriage of the annexin A5 M2 haplotype: a possible risk factor for recurrent implantation failure (RIF)

2020 . Rogenhofer, Nina | Markoff, Arseni | Ennerst, Xenia | Bogdanova, Nadja | Thaler, Christian

Common genetic variation in the Angelman syndrome imprinting centre affects the imprinting of chromosome 15

2020 . Beygo, Jasmin | Grosser, Christian | Kaya, Sabine | Mertel, Claudia | Buiting, Karin | Horsthemke, Bernhard