Encephalopathic Susac’s Syndrome associated with livedo racemosa in a young woman before the completion of family planning

di Engeholm, Maik, Leo-Kottler, Beate, Rempp, Hansjörg, Lindig, Tobias, Lerche, Holger, Kleffner, Ilka, Henes, Melanie, Dihné, Marcel
Pubblicato in BMC Neurol (2013)

Solving a 50 year mystery of a missing <it>OPA1 </it>mutation: more insights from the first family diagnosed with autosomal dominant optic atrophy

di Zrenner Eberhart, Auburger Georg, Alexander Christiane, Leo-Kottler Beate, Kamenisch York, Schimpf Simone, Fuhrmann Nico, Wissinger Bernd, Alavi Marcel V
Pubblicazione 2010-06-01

Solving a 50 year mystery of a missing OPA1 mutation: more insights from the first family diagnosed with autosomal dominant optic atrophy

di Fuhrmann, Nico, Schimpf, Simone, Kamenisch, York, Leo-Kottler, Beate, Alexander, Christiane, Auburger, Georg, Zrenner, Eberhart, Wissinger, Bernd, Alavi, Marcel V
Pubblicazione 2010

Rare Primary Mitochondrial DNA Mutations and Probable Synergistic Variants in Leber’s Hereditary Optic Neuropathy

di Achilli, Alessandro, Iommarini, Luisa, Olivieri, Anna, Pala, Maria, Hooshiar Kashani, Baharak, Reynier, Pascal, La Morgia, Chiara, Valentino, Maria Lucia, Liguori, Rocco, Pizza, Fabio, Barboni, Piero, Sadun, Federico, De Negri, Anna Maria, Zeviani, Massimo, Dollfus, Helene, Moulignier, Antoine, Ducos, Ghislaine, Orssaud, Christophe, Bonneau, Dominique, Procaccio, Vincent, Leo-Kottler, Beate, Fauser, Sascha, Wissinger, Bernd, Amati-Bonneau, Patrizia, Torroni, Antonio, Carelli, Valerio
Pubblicazione 2012