Commentary: SPTBN5, encoding the βV-spectrin protein, leads to a syndrome of intellectual disability, developmental delay, and seizures

por Beijer, Danique, Züchner, Stephan L.
Publicado 2022

The phenotypic spectrum of pathogenic ATP1A1 variants expands: the novel p.P600R substitution causes demyelinating Charcot–Marie–Tooth disease

por Cinarli Yuksel, Feride, Nicolaou, Paschalis, Spontarelli, Kerri, Dohrn, Maike F., Rebelo, Adriana P., Koutsou, Pantelitsa, Georghiou, Anthi, Artigas, Pablo, Züchner, Stephan L., Kleopa, Kleopas A., Christodoulou, Kyproula
Publicado 2023

Segregation of a rare TTC3 variant in an extended family with late-onset Alzheimer disease

por Kohli, Martin A., Cukier, Holly N., Hamilton-Nelson, Kara L., Rolati, Sophie, Kunkle, Brian W., Whitehead, Patrice L., Züchner, Stephan L., Farrer, Lindsay A., Martin, Eden R., Beecham, Gary W., Haines, Jonathan L., Vance, Jeffery M., Cuccaro, Michael L., Gilbert, John R., Schellenberg, Gerard D., Carney, Regina M., Pericak-Vance, Margaret A.
Publicado 2016