A Potential Citrate Shunt in Erythrocytes of PKAN Patients Caused by Mutations in Pantothenate Kinase 2 von Werning, Maike, Dobretzberger, Verena, Brenner, Martin, Müllner, Ernst W, Mlynek, Georg, Djinovic-Carugo, Kristina, Baron, David M, Fragner, Lena, Bischoff, Almut T, Büchner, Boriana, Klopstock, Thomas, Weckwerth, Wolfram, Salzer, Ulrich

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Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 4-year cohort study von Reetz, Kathrin, Dogan, Imis, Hilgers, Ralf-Dieter, Giunti, Paola, Parkinson, Michael H, Mariotti, Caterina, Nanetti, Lorenzo, Durr, Alexandra, Ewenczyk, Claire, Boesch, Sylvia, Nachbauer, Wolfgang, Klopstock, Thomas, Stendel, Claudia, Rodríguez de Rivera Garrido, Francisco Javier, Rummey, Christian, Schöls, Ludger, Hayer, Stefanie N, Klockgether, Thomas, Giordano, Ilaria, Didszun, Claire, Rai, Myriam, Pandolfo, Massimo, Schulz, Jörg B, Labrum, Robyn, Thomas-Black, Gilbert, Manso, Katarina, Solanky, Nita, Gellera, Cinzia, Mongelli, Alessia, Castaldo, Anna, Fichera, Mario, Palau, Francesc, O'Callaghan, Mar, Biet, Marie, Monin, Marie Lorraine, Eigentler, Andreas, Indelicato, Elisabetta, Amprosi, Matthias, Radelfahr, Florentine, Bischoff, Almut T., Holtbernd, Florian, Brcina, Nikolina, Hohenfeld, Christian, Koutsis, Georgios, Breza, Marianthi, Bertini, Enrico, Vasco, Gessica

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Longitudinal changes of SARA scale in Friedreich ataxia: Strong influence of baseline score and age at onset von Porcu, Luca, Fichera, Mario, Nanetti, Lorenzo, Rulli, Eliana, Giunti, Paola, Parkinson, Michael H., Durr, Alexandra, Ewenczyk, Claire, Boesch, Sylvia, Nachbauer, Wolfgang, Indelicato, Elisabetta, Klopstock, Thomas, Stendel, Claudia, Rodríguez de Rivera, Francisco Javier, Schöls, Ludger, Fleszar, Zofia, Giordano, Ilaria, Didszun, Claire, Castaldo, Anna, Rai, Myriam, Klockgether, Thomas, Pandolfo, Massimo, Schulz, Jörg B., Reetz, Kathrin, Mariotti, Caterina

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A Potential Citrate Shunt in Erythrocytes of PKAN Patients Caused by Mutations in Pantothenate Kinase 2 von Werning, Maike, Dobretzberger, Verena, Brenner, Martin, Mullner, Ernst W, Mlynek, Georg, Djinovic-Carugo, Kristina, Baron, David M, Fragner, Lena, Bischoff, Almut T, Buchner, Boriana, Klopstock, Thomas, Weckwerth, Wolfram, Salzer, Ulrich

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Phase 2b program with sonlicromanol in patients with mitochondrial disease due to m.3243A>G mutation von Smeitink, Jan, van Es, Just, Bosman, Brigitte, Janssen, Mirian C H, Klopstock, Thomas, Gorman, Grainne, Vissing, John, Ruiterkamp, Gerrit, Edgar, Chris J, Abbink, Evertine J, van Maanen, Rob, Pogoryelova, Oksana, Stendel, Claudia, Bischoff, Almut, Karin, Ivan, Munshi, Mahtab, Kümmel, Anne, Burgert, Lydia, Verhaak, Christianne, Renkema, Herma

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Functional characterization of the first missense variant in CEP78, a founder allele associated with cone‐rod dystrophy, hearing loss, and reduced male fertility von Ascari, Giulia, Peelman, Frank, Farinelli, Pietro, Rosseel, Toon, Lambrechts, Nina, Wunderlich, Kirsten A., Wagner, Matias, Nikopoulos, Konstantinos, Martens, Pernille, Balikova, Irina, Derycke, Lara, Holtappels, Gabriële, Krysko, Olga, Van Laethem, Thalia, De Jaegere, Sarah, Guillemyn, Brecht, De Rycke, Riet, De Bleecker, Jan, Creytens, David, Van Dorpe, Jo, Gerris, Jan, Bachert, Claus, Neuhofer, Christiane, Walraedt, Sophie, Bischoff, Almut, Pedersen, Lotte B., Klopstock, Thomas, Rivolta, Carlo, Leroy, Bart P., De Baere, Elfride, Coppieters, Frauke

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Fosmetpantotenate Randomized Controlled Trial in Pantothenate Kinase–Associated Neurodegeneration von Klopstock, Thomas, Videnovic, Aleksandar, Bischoff, Almut Turid, Bonnet, Cecilia, Cif, Laura, Comella, Cynthia, Correa‐Vela, Marta, Escolar, Maria L., Fraser, Jamie L., Gonzalez, Victoria, Hermanowicz, Neal, Jech, Robert, Jinnah, Hyder A., Kmiec, Tomasz, Lang, Anthony, Martí, Maria J., Mercimek‐Andrews, Saadet, Monduy, Migvis, Nimmo, Graeme A.M., Perez‐Dueñas, Belen, Pfeiffer, Helle Cecilie Viekilde, Planellas, Lluis, Roze, Emmanuel, Thakur, Nivedita, Tochen, Laura, Vanegas‐Arroyave, Nora, Zorzi, Giovanna, Burns, Colleen, Greblikas, Feriandas

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De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia von Van de Vondel, Liedewei, De Winter, Jonathan, Beijer, Danique, Coarelli, Giulia, Wayand, Melanie, Palvadeau, Robin, Pauly, Martje G., Klein, Katrin, Rautenberg, Maren, Guillot‐Noël, Léna, Deconinck, Tine, Vural, Atay, Ertan, Sibel, Dogu, Okan, Uysal, Hilmi, Brankovic, Vesna, Herzog, Rebecca, Brice, Alexis, Durr, Alexandra, Klebe, Stephan, Stock, Friedrich, Bischoff, Almut Turid, Rattay, Tim W., Sobrido, María‐Jesús, De Michele, Giovanna, De Jonghe, Peter, Klopstock, Thomas, Lohmann, Katja, Zanni, Ginevra, Santorelli, Filippo M., Timmerman, Vincent, Haack, Tobias B., Züchner, Stephan, Schüle, Rebecca, Stevanin, Giovanni, Synofzik, Matthis, Basak, A. Nazli, Baets, Jonathan

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Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility von Ascari, Giulia, Peelman, Frank, Farinelli, Pietro, Rosseel, Toon, Lambrechts, Nina, Wunderlich, Kirsten A, Wagner, Matias, Nikopoulos, Konstantinos, Martens, Pernille, Balikova, Irina, Derycke, Lara, Holtappels, Gabriele, Krysko, Olga, Van Laethem, Thalia, De Jaegere, Sarah, Guillemyn, Brecht, De Rycke, Riet, De Bleecker, Jan, Creytens, David, Van Dorpe, Jo, Gerris, Jan, Bachert, Claus, Neuhofer, Christiane, Walraedt, Sophie, Bischoff, Almut, Pedersen, Lotte B, Klopstock, Thomas, Rivolta, Carlo, Leroy, Bart P, De Baere, Elfride, Coppieters, Frauke

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Functional characterization of the first missense variant in CEP78, a founder allele associated with cone‐rod dystrophy, hearing loss and reduced male fertility von Ascari, Giulia, Peelman, Frank, Farinelli, Pietro, Rosseel, Toon, Lambrechts, Nina, Wunderlich, Kirsten A, Wagner, Matias, Nikopoulos, Konstantinos, Martens, Pernille, Balikova, Irina, Derycke, Lara, Holtappels, Gabriële, Krysko, Olga, Van Laethem, Thalia, De Jaegere, Sarah, Guillemyn, Brecht, De Rycke, Riet, De Bleecker, Jan, Creytens, David, Van Dorpe, Jo, Gerris, Jan, Bachert, Claus, Neuhofer, Christiane, WALRAEDT, SOPHIE, Bischoff, Almut, Pedersen, Lotte B, Klopstock, Thomas, Rivolta, Carlo, Leroy, Bart, De Baere, Elfride, Coppieters, Frauke

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De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia von Vondel, Liedewei van de, De Winter, Jonathan, Beijer, Danique, Coarelli, Giulia, Wayand, Melanie, Palvadeau, Robin, Pauly, Martje G, Klein, Katrin, Rautenberg, Maren, Guillot-Noel, Lena, Deconinck, Tine, Vural, Atay, Ertan, Sibel, Dogu, Okan, Uysal, Hilmi, Brankovic, Vesna, Herzog, Rebecca, Brice, Alexis, Durr, Alexandra, Klebe, Stephan, Stock, Friedrich, Bischoff, Almut Turid, Rattay, Tim W, Sobrido, Maria-Jesus, De Michele, Giovanna, De Jonghe, Peter, Klopstock, Thomas, Lohmann, Katja, Zanni, Ginevra, Santorelli, Filippo M, Timmerman, Vincent, Haack, Tobias B, Zuchner, Stephan, Schuele, Rebecca, Stevanin, Giovanni, Synofzik, Matthis, Basak, A. Nazli, Baets, Jonathan

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Fosmetpantotenate Randomized Controlled Trial in Pantothenate Kinase-Associated Neurodegeneration von Klopstock, Thomas, Videnovic, Aleksandar, Bischoff, Almut Turid, Bonnet, Cecilia, Cif, Laura, Comella, Cynthia, Correa-Vela, Marta, Escolar, Maria L, Fraser, Jamie L, Gonzalez, Victoria, Hermanowicz, Neal, Jech, Robert, Jinnah, Hyder A, Kmiec, Tomasz, Lang, Anthony, Marti, Maria J, Mercimek-Andrews, Saadet, Monduy, Migvis, Nimmo, Graeme A. M, Perez-Duenas, Belen, Pfeiffer, Helle Cecilie Viekilde, Planellas, Lluis, Roze, Emmanuel, Thakur, Nivedita, Tochen, Laura, Vanegas-Arroyave, Nora, Zorzi, Giovanna, Burns, Colleen, Greblikas, Feriandas

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Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility von Ascari, Giulia, Peelman, Frank, Farinelli, Pietro, Rosseel, Toon, Lambrechts, Nina, Wunderlich, Kirsten A, Wagner, Matias, Nikopoulos, Konstantinos, Martens, Pernille, Balikova, Irina, Derycke, Lara, Holtappels, Gabriele, Krysko, Olga, Laethem, Thalia van, De Jaegere, Sarah, Guillemyn, Brecht, De Rycke, Riet, De Bleecker, Jan, Creytens, David, Dorpe, Jo van, Gerris, Jan, Bachert, Claus, Neuhofer, Christiane, Walraedt, Sophie, Bischoff, Almut, Pedersen, Lotte B, Klopstock, Thomas, Rivolta, Carlo, Leroy, Bart P, De Baere, Elfride, Coppieters, Frauke

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