Phenotype and natural history of mitochondrial membrane protein-associated neurodegeneration von Iankova, Vassilena, Sparber, Peter, Rohani, Mohammad, Dusek, Petr, Büchner, Boriana, Karin, Ivan, Schneider, Susanne A, Gorriz, Juan M, Kmiec, Tomasz, Klopstock, Thomas

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Expanded phenotypic spectrum of the m.8344A>G “MERRF” mutation: data from the German mitoNET registry von Altmann, Judith, Büchner, Boriana, Nadaj-Pakleza, Aleksandra, Schäfer, Jochen, Jackson, Sandra, Lehmann, Diana, Deschauer, Marcus, Kopajtich, Robert, Lautenschläger, Ronald, Kuhn, Klaus A., Karle, Kathrin, Schöls, Ludger, Schulz, Jörg B., Weis, Joachim, Prokisch, Holger, Kornblum, Cornelia, Claeys, Kristl G., Klopstock, Thomas

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Hemodynamic determinants of chronic hypotension and their modification through vasopressor application von Duschek, Stefan, Heiss, Heike, Buechner, Boriana, Werner, Natalie, Schandry, Rainer, Reyes del Paso, Gustavo A

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Treat Iron-Related Childhood-Onset Neurodegeneration (TIRCON)-An International Network on Care and Research for Patients With Neurodegeneration With Brain Iron Accumulation (NBIA) von Karin, Ivan, Buechner, Boriana, Gauzy, Florence, Klucken, Angelika, Klopstock, Thomas

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Safety and tolerability of carbamylated erythropoietin in Friedreich's ataxia von Boesch, Sylvia, Nachbauer, Wolfgang, Mariotti, Caterina, Sacca, Francesco, Filla, Alessandro, Klockgether, Thomas, Klopstock, Thomas, Schöls, Ludger, Jacobi, Heike, Büchner, Boriana, vom Hagen, Jennifer Müller, Nanetti, Lorenzo, Manicom, Karen

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Delineating MT-ATP6-associated disease von Stendel, Claudia, Neuhofer, Christiane, Floride, Elisa, Shi Yuqing, Ganetzky, Rebecca D., Park, Joohyun, Freisinger, Peter, Kornblum, Cornelia, Kleinle, Stephanie, Schoels, Ludger, Distelmaier, Felix, Stettner, Georg M., Buechner, Boriana, Falk, Marni J., Mayr, Johannes A., Synofzik, Matthis, Abicht, Angela, Haack, Tobias B., Prokisch, Holger, Wortmann, Saskia B., Murayama, Kei, Fang, Fang, Klopstock, Thomas

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Effects of Idebenone on Color Vision in Patients With Leber Hereditary Optic Neuropathy von Rudolph, Guenther, Dimitriadis, Konstantinos, Büchner, Boriana, Heck, Suzette, Al-Tamami, Jasmina, Seidensticker, Florian, Rummey, Christian, Leinonen, Mika, Meier, Thomas, Klopstock, Thomas

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A Nation-Wide, Multi-Center Study on the Quality of Life of ALS Patients in Germany von Peseschkian, Tara, Cordts, Isabell, Guenther, Rene, Stolte, Benjamin, Zeller, Daniel, Schroeter, Carsten, Weyen, Ute, Regensburger, Martin, Wolf, Joachim, Schneider, Ilka, Hermann, Andreas, Metelmann, Moritz, Kohl, Zacharias, Linker, Ralf A., Koch, Jan Christoph, Buechner, Boriana, Weiland, Ulrike, Schoenfelder, Erik, Heinrich, Felix, Osmanovic, Alma, Klopstock, Thomas, Dorst, Johannes, Ludolph, Albert C., Boentert, Matthias, Hagenacker, Tim, Deschauer, Marcus, Lingor, Paul, Petri, Susanne, Schreiber-Katz, Olivia

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PKAN neurodegeneration and residual PANK2 activities in patient erythrocytes von Werning, Maike, Müllner, Ernst W., Mlynek, Georg, Dobretzberger, Verena, Djinovic‐Carugo, Kristina, Baron, David M., Prokisch, Holger, Büchner, Boriana, Klopstock, Thomas, Salzer, Ulrich

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Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement von Haack, Tobias B., Jackson, Christopher B., Murayama, Kei, Kremer, Laura S., Schaller, André, Kotzaeridou, Urania, Vries, Maaike C., Schottmann, Gudrun, Santra, Saikat, Büchner, Boriana, Wieland, Thomas, Graf, Elisabeth, Freisinger, Peter, Eggimann, Sandra, Ohtake, Akira, Okazaki, Yasushi, Kohda, Masakazu, Kishita, Yoshihito, Tokuzawa, Yoshimi, Sauer, Sascha, Memari, Yasin, Kolb‐Kokocinski, Anja, Durbin, Richard, Hasselmann, Oswald, Cremer, Kirsten, Albrecht, Beate, Wieczorek, Dagmar, Engels, Hartmut, Hahn, Dagmar, Zink, Alexander M., Alston, Charlotte L., Taylor, Robert W., Rodenburg, Richard J., Trollmann, Regina, Sperl, Wolfgang, Strom, Tim M., Hoffmann, Georg F., Mayr, Johannes A., Meitinger, Thomas, Bolognini, Ramona, Schuelke, Markus, Nuoffer, Jean‐Marc, Kölker, Stefan, Prokisch, Holger, Klopstock, Thomas

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An international registry for neurodegeneration with brain iron accumulation von Kalman, Bernadette, Lautenschlaeger, Ronald, Kohlmayer, Florian, Büchner, Boriana, Kmiec, Thomas, Klopstock, Thomas, Kuhn, Klaus A

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Reduction in Pain Sensitivity from Pharmacological Elevation of Blood Pressure in Persons with Chronically Low Blood Pressure von Duschek, Stefan, Heiss, Heike, Buechner, Boriana, Schandry, Rainer

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Treat Iron-Related Childhood-Onset Neurodegeneration (TIRCON)—An International Network on Care and Research for Patients With Neurodegeneration With Brain Iron Accumulation (NBIA)... von Karin, Ivan, Buechner, Boriana, Gauzy, Florence, Klucken, Angelika, Klopstock, Thomas

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PKAN neurodegeneration and residual PANK2 activities in patient erythrocytes von Werning, Maike, Muellner, Ernst W, Mlynek, Georg, Dobretzberger, Verena, Djinovic-Carugo, Kristina, Baron, David M, Prokisch, Holger, Buechner, Boriana, Klopstock, Thomas, Salzer, Ulrich

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A Nation-Wide, Multi-Center Study on the Quality of Life of ALS Patients in Germany von Peseschkian, Tara, Cordts, Isabell, Guenther, Rene, Stolte, Benjamin, Zeller, Daniel, Schroeter, Carsten, Weyen, Ute, Regensburger, Martin, Wolf, Joachim, Schneider, Ilka, Hermann, Andreas, Metelmann, Moritz, Kohl, Zacharias, Linker, Ralf A, Koch, Jan Christoph, Buechner, Boriana, Weiland, Ulrike, Schoenfelder, Erik, Heinrich, Felix, Osmanovic, Alma, Klopstock, Thomas, Dorst, Johannes, Ludolph, Albert C, Boentert, Matthias, Hagenacker, Tim, Deschauer, Marcus, Lingor, Paul, Petri, Susanne, Schreiber-Katz, Olivia

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Delineating MT-ATP6-associated disease von Stendel, Claudia, Neuhofer, Christiane, Floride, Elisa, Shi, Yuqing, Ganetzky, Rebecca D, Park, Joohyun, Freisinger, Peter, Kornblum, Cornelia, Kleinle, Stephanie, Schoels, Ludger, Distelmaier, Felix, Stettner, Georg M, Buechner, Boriana, Falk, Marni J, Mayr, Johannes A, Synofzik, Matthis, Abicht, Angela, Haack, Tobias B, Prokisch, Holger, Wortmann, Saskia B, Murayama, Kei, Fang, Fang, Klopstock, Thomas

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An international registry for neurodegeneration with brain iron accumulation von Kalman, Bernadette, Lautenschlaeger, Ronald, Kohlmayer, Florian, Buechner, Boriana, Kmiec, Thomas, Klopstock, Thomas, Kuhn, Klaus A

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Methoden zur numerischen Berechnung der nasalen Strömung von Büchner, Boriana A

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