Phenotypic expression and founder effect of PANK2 c.1583C>T (p.T528M) mutation in Serbian pantothenate kinase-associated neurodegeneration patients

Por Svetel Marina, Hartig Monika, Cvetković Dragana, Beaubois Cyrielle, Maksić Jasmina, Novaković Ivana, Krajinović Maja, Kostić Vladimir
Publicado em 2019-01-01

Brain iron quantification by MRI in mitochondrial membrane protein-associated neurodegeneration under iron-chelating therapy

Por Löbel, Ulrike, Schweser, Ferdinand, Nickel, Miriam, Deistung, Andreas, Grosse, Regine, Hagel, Christian, Fiehler, Jens, Schulz, Angela, Hartig, Monika, Reichenbach, Jürgen R, Kohlschütter, Alfried, Sedlacik, Jan
Publicado no Ann Clin Transl Neurol (2014)

Alterations of Red Cell Membrane Properties in Nneuroacanthocytosis

Por Siegl, Claudia, Hamminger, Patricia, Jank, Herbert, Ahting, Uwe, Bader, Benedikt, Danek, Adrian, Gregory, Allison, Hartig, Monika, Hayflick, Susan, Hermann, Andreas, Prokisch, Holger, Sammler, Esther M., Yapici, Zuhal, Prohaska, Rainer, Salzer, Ulrich
Publicado em 2013

Correction: Alterations of Red Cell Membrane Properties in Neuroacanthocytosis

Por Siegl, Claudia, Hamminger, Patricia, Jank, Herbert, Ahting, Uwe, Bader, Benedikt, Danek, Adrian, Gregory, Allison, Hartig, Monika, Hayflick, Susan, Hermann, Andreas, Prokisch, Holger, Sammler, Esther M., Yapici, Zuhal, Prohaska, Rainer, Salzer, Ulrich
Publicado em 2013

Absence of an Orphan Mitochondrial Protein, C19orf12, Causes a Distinct Clinical Subtype of Neurodegeneration with Brain Iron Accumulation

Por Hartig, Monika B., Iuso, Arcangela, Haack, Tobias, Kmiec, Tomasz, Jurkiewicz, Elzbieta, Heim, Katharina, Roeber, Sigrun, Tarabin, Victoria, Dusi, Sabrina, Krajewska-Walasek, Malgorzata, Jozwiak, Sergiusz, Hempel, Maja, Winkelmann, Juliane, Elstner, Matthias, Oexle, Konrad, Klopstock, Thomas, Mueller-Felber, Wolfgang, Gasser, Thomas, Trenkwalder, Claudia, Tiranti, Valeria, Kretzschmar, Hans, Schmitz, Gerd, Strom, Tim M., Meitinger, Thomas, Prokisch, Holger
Publicado em 2011

Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy

Por Haack, Tobias B., Ignatius, Erika, Calvo-Garrido, Javier, Iuso, Arcangela, Isohanni, Pirjo, Maffezzini, Camilla, Lönnqvist, Tuula, Suomalainen, Anu, Gorza, Matteo, Kremer, Laura S., Graf, Elisabeth, Hartig, Monika, Berutti, Riccardo, Paucar, Martin, Svenningsson, Per, Stranneheim, Henrik, Brandberg, Göran, Wedell, Anna, Kurian, Manju A., Hayflick, Susan A., Venco, Paola, Tiranti, Valeria, Strom, Tim M., Dichgans, Martin, Horvath, Rita, Holinski-Feder, Elke, Freyer, Christoph, Meitinger, Thomas, Prokisch, Holger, Senderek, Jan, Wredenberg, Anna, Carroll, Christopher J., Klopstock, Thomas
Publicado no Am J Hum Genet (2016)