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

Por Engeholm, Maik, Leo-Kottler, Beate, Rempp, Hansjörg, Lindig, Tobias, Lerche, Holger, Kleffner, Ilka, Henes, Melanie, Dihné, Marcel
Publicado no 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

Por Zrenner Eberhart, Auburger Georg, Alexander Christiane, Leo-Kottler Beate, Kamenisch York, Schimpf Simone, Fuhrmann Nico, Wissinger Bernd, Alavi Marcel V
Publicado em 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

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

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

Por 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
Publicado em 2012