Chorein‐sensitive polymerization of cortical actin and suicidal cell death in chorea‐acanthocytosis von Föller, Michael, Hermann, Andreas, Gu, Shuchen, Alesutan, Ioana, Qadri, Syed M., Borst, Oliver, Schmidt, Eva‐Maria, Schiele, Franziska, Hagen, Jennifer Müller vom, Saft, Carsten, Schöls, Ludger, Lerche, Holger, Stournaras, Christos, Storch, Alexander, Lang, Florian

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Niemann-Pick type C is frequent in adult ataxia with cognitive decline and vertical gaze palsy von Schicks, Julia, Müller Vom Hagen, Jennifer, Bauer, Peter, Beck-Wödl, Stefanie, Biskup, Saskia, Krägeloh-Mann, Ingeborg, Schöls, Ludger, Synofzik, Matthis

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Biological and clinical characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline data von Reetz, Kathrin, Prof, Dogan, Imis, PhD, Costa, Ana S, MSc, Dafotakis, Manuel, MD, Fedosov, Kathrin, MSc, Giunti, Paola, MD, Parkinson, Michael H, MBBS, Sweeney, Mary G, BSc, Mariotti, Caterina, MD, Panzeri, Marta, MD, Nanetti, Lorenzo, MD, Arpa, Javier, MD, Sanz-Gallego, Irene, MD, Durr, Alexandra, Prof, Charles, Perrine, MD, Boesch, Sylvia, MD, Nachbauer, Wolfgang, MD, Klopstock, Thomas, MD, Karin, Ivan, MD, Depondt, Chantal, MD, vom Hagen, Jennifer Müller, MD, Schöls, Ludger, Prof, Giordano, Ilaria A, MD, Klockgether, Thomas, Prof, Bürk, Katrin, MD, Pandolfo, Massimo, Prof, Schulz, Jörg B, Prof Dr

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Screening in ALS and FTD patients reveals 3 novel UBQLN2 mutations outside the PXX domain and a pure FTD phenotype von Synofzik, Matthis, Maetzler, Walter, Grehl, Torsten, Prudlo, Johannes, vom Hagen, Jennifer Müller, Haack, Tobias, Rebassoo, Piret, Munz, Marita, Schöls, Ludger, Biskup, Saskia

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Chorein Sensitive Arrangement of Cytoskeletal Architecture von Honisch, Sabina, Gu, Shuchen, vom Hagen, Jennifer Müller, Alkahtani, Saad, Al Kahtane, Abdullah A., Tsapara, Anna, Hermann, Andreas, Storch, Alexander, Schöls, Ludger, Lang, Florian, Stournaras, Christos

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High prevalence of NMDA receptor IgA/IgM antibodies in different dementia types von Doss, Sarah, Wandinger, Klaus‐Peter, Hyman, Bradley T., Panzer, Jessica A., Synofzik, Matthis, Dickerson, Bradford, Mollenhauer, Brit, Scherzer, Clemens R., Ivinson, Adrian J., Finke, Carsten, Schöls, Ludger, Müller vom Hagen, Jennifer, Trenkwalder, Claudia, Jahn, Holger, Höltje, Markus, Biswal, Bharat B., Harms, Lutz, Ruprecht, Klemens, Buchert, Ralph, Höglinger, Günther U., Oertel, Wolfgang H., Unger, Marcus M., Körtvélyessy, Peter, Bittner, Daniel, Priller, Josef, Spruth, Eike J., Paul, Friedemann, Meisel, Andreas, Lynch, David R., Dirnagl, Ulrich, Endres, Matthias, Teegen, Bianca, Probst, Christian, Komorowski, Lars, Stöcker, Winfried, Dalmau, Josep, Prüss, Harald

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Leukodystrophies in idiopathic adult-onset ataxia: Frequency and phenotype in 105 patients von Müller vom Hagen, Jennifer, Synofzik, Matthis, Schicks, Julia, Krägeloh-Mann, Ingeborg, Schöls, Ludger

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A Pan‐ E uropean Study of the C9orf72 Repeat Associated with FTLD : Geographic Prevalence, Genomic Instability, and Intermediate Repeats von van der Zee, Julie, Gijselinck, Ilse, Dillen, Lubina, Van Langenhove, Tim, Theuns, Jessie, Engelborghs, Sebastiaan, Philtjens, Stéphanie, Vandenbulcke, Mathieu, Sleegers, Kristel, Sieben, Anne, Bäumer, Veerle, Maes, Githa, Corsmit, Ellen, Borroni, Barbara, Padovani, Alessandro, Archetti, Silvana, Perneczky, Robert, Diehl‐Schmid, Janine, de Mendonça, Alexandre, Miltenberger‐Miltenyi, Gabriel, Pereira, Sónia, Pimentel, José, Nacmias, Benedetta, Bagnoli, Silvia, Sorbi, Sandro, Graff, Caroline, Chiang, Huei‐Hsin, Westerlund, Marie, Sanchez‐Valle, Raquel, Llado, Albert, Gelpi, Ellen, Santana, Isabel, Almeida, Maria Rosário, Santiago, Beatriz, Frisoni, Giovanni, Zanetti, Orazio, Bonvicini, Cristian, Synofzik, Matthis, Maetzler, Walter, vom Hagen, Jennifer Müller, Schöls, Ludger, Heneka, Michael T., Jessen, Frank, Matej, Radoslav, Parobkova, Eva, Kovacs, Gabor G., Ströbel, Thomas, Sarafov, Stayko, Tournev, Ivailo, Jordanova, Albena, Danek, Adrian, Arzberger, Thomas, Fabrizi, Gian Maria, Testi, Silvia, Salmon, Eric, Santens, Patrick, Martin, Jean‐Jacques, Cras, Patrick, Vandenberghe, Rik, De Deyn, Peter Paul, Cruts, Marc, Van Broeckhoven, Christine, van der Zee, Julie, Gijselinck, Ilse, Dillen, Lubina, Van Langenhove, Tim, Theuns, Jessie, Philtjens, Stéphanie, Sleegers, Kristel, Bäumer, Veerle, Maes, Githa, Corsmit, Ellen, Cruts, Marc, Van Broeckhoven, Christine, Engelborghs, Sebastiaan, De Deyn, Peter P., Cras, Patrick, Vandenbulcke, Mathieu, Borroni, Barbara, Padovani, Alessandro, Archetti, Silvana, Perneczky, Robert, Diehl‐Schmid, Janine, Synofzik, Matthis, Maetzler, Walter, Müller vom Hagen, Jennifer, Schöls, Ludger, Heneka, Michael T., Jessen, Frank, Ramirez, Alfredo, Kurzwelly, Delia, Sachtleben, Carmen, Mairer, Wolfgang, de Mendonça, Alexandre, Miltenberger‐Miltenyi, Gabriel, Pereira, Sónia, Firmo, Clara, Pimentel, José, Sanchez‐Valle, Raquel, Llado, Albert

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Progression characteristics of the European Friedreich’s Ataxia Consortium for Translational Studies (EFACTS): a 2 year cohort study von Reetz, Kathrin, MD, Dogan, Imis, PhD, Hilgers, Ralf-Dieter, Prof, Giunti, Paola, MD, Mariotti, Caterina, MD, Durr, Alexandra, MD, Boesch, Sylvia, MD, Klopstock, Thomas, MD, de Rivera, Francisco Javier Rodriguez, MD, Schöls, Ludger, Prof, Klockgether, Thomas, Prof, Bürk, Katrin, MD, Rai, Myriam, PhD, Pandolfo, Massimo, Prof, Schulz, Jörg B, Prof

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Nonataxia symptoms in Friedreich Ataxia: Report from the Registry of the European Friedreichʼs Ataxia Consortium for Translational Studies (EFACTS) von Reetz, Kathrin, Dogan, Imis, Hohenfeld, Christian, Didszun, Claire, Giunti, Paola, Mariotti, Caterina, Durr, Alexandra, Boesch, Sylvia, Klopstock, Thomas, Rodríguez de Rivera Garrido, Francisco Javier, Schöls, Ludger, Giordano, Ilaria, Bürk, Katrin, Pandolfo, Massimo, Schulz, Jörg B

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NPC1 is enriched in unexplained early onset ataxia: a targeted high-throughput screening von Synofzik, Matthis, Harmuth, Florian, Stampfer, Miriam, Müller vom Hagen, Jennifer, Schöls, Ludger, Bauer, Peter

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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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A Pan-European Study of the C9orf72 Repeat Associated with FTLD: Geographic Prevalence, Genomic Instability, and Intermediate Repeats von van der Zee, Julie, Dillen, Lubina, Van Langenhove, Tim, Engelborghs, Sebastiaan, Philtjens, Stéphanie, Vandenbulcke, Mathieu, Sleegers, Kristel, Sieben, Anne, Bäumer, Veerle, Borroni, Barbara, Padovani, Alessandro, Archetti, Silvana, Perneczky, Robert, Diehl-Schmid, Janine, de Mendonça, Alexandre, Miltenberger-Miltenyi, Gabriel, Pimentel, José, Graff, Caroline, Chiang, Huei-Hsin, Sanchez-Valle, Raquel, Llado, Albert, Gelpi, Ellen, Santiago, Beatriz, Frisoni, Giovanni, Zanetti, Orazio, Bonvicini, Cristian, vom Hagen, Jennifer Müller, Schöls, Ludger, Heneka, Michael T., Matej, Radoslav, Parobkova, Eva, Kovacs, Gabor G., Ströbel, Thomas, Sarafov, Stayko, Tournev, Ivailo, Jordanova, Albena, Danek, Adrian, Arzberger, Thomas, Testi, Silvia, Salmon, Eric, Santens, Patrick, Cras, Patrick, Vandenberghe, Rik, De Deyn, Peter Paul, Cruts, Marc, Van Broeckhoven, Christine, van der Zee, Julie, Dillen, Lubina, Van Langenhove, Tim, Philtjens, Stéphanie, Sleegers, Kristel, Corsmit, Ellen, Cruts, Marc, Van Broeckhoven, Christine, Engelborghs, Sebastiaan, De Deyn, Peter P., Cras, Patrick, Vandenbulcke, Mathieu, Borroni, Barbara, Padovani, Alessandro, Archetti, Silvana, Maetzler, Walter, Heneka, Michael T., Jessen, Frank, Kurzwelly, Delia, Sachtleben, Carmen, Miltenberger-Miltenyi, Gabriel, Pereira, Sónia, Firmo, Clara, Pimentel, José, Llado, Albert, Antonell, Anna, Gelpi, Ellen, Kinhult Ståhlbom, Anne, Thonberg, Håkan, Nennesmo, Inger, Börjesson-Hanson, Anne, Bagnoli, Silvia, Sorbi, Sandro, Santiago, Beatriz, Helena Ribeiro, Maria, Garret, Carolina, Pires, Paula, Frisoni, Giovanni, Zanetti, Orazio, Bonvicini, Cristian, Sarafov, Stayko, Tournev, Ivailo, Jordanova, Albena, Ströbel, Thomas, Mairer, Wolfgang, Matej, Radoslav, Parobkova, Eva, Danel, Adrian, Arzberger, Thomas, Maria Fabrizi, Gian, Testi, Silvia, Ferrari, Sergio, Cavallaro, Tiziana, Salmon, Eric

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Chorein sensitivity of cytoskeletal organization and degranulation of platelets von Schmidt, Eva‐Maria, Schmid, Evi, Münzer, Patrick, Hermann, Andreas, Eyrich, Ann‐Kathrin, Russo, Antonella, Walker, Britta, Gu, Shuchen, Hagen, Jennifer Müller, Faggio, Caterina, Schaller, Martin, Föller, Michael, Schöls, Ludger, Gawaz, Meinrad, Borst, Oliver, Storch, Alexander, Stournaras, Christos, Lang, Florian

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X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation von Synofzik, Matthis, Müller vom Hagen, Jennifer, Haack, Tobias B, Wilhelm, Christian, Lindig, Tobias, Beck-Wödl, Stefanie, Nabuurs, Sander B, van Kuilenburg, André B P, de Brouwer, Arjan P M, Schöls, Ludger

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NIEMANN-PICK TYPE C IS FREQUENT IN ADULT ATAXIA WITH COGNITIVE DECLINE AND I VERTICAL GAZE PALSY von SCHICKS, Julia, VOM HAGEN, Jennifer Müller, BAUER, Peter, BECK-WÖDL, Stefanie, BISKUP, Saskia, KRÄGELOH-MANN, Ingeborg, SCHÖLS, Ludger, SYNOFZIK, Matthis

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Chorein sensitivity of cytoskeletal organization and degranulation of platelets von Schmidt, Eva‐Maria, Schmid, Evi, Münzer, Patrick, Hermann, Andreas, Eyrich, Ann‐Kathrin, Russo, Antonella, Walker, Britta, Gu, Shuchen, Hagen, Jennifer Müller, Faggio, Caterina, Schaller, Martin, Föller, Michael, Schöls, Ludger, Gawaz, Meinrad, Borst, Oliver, Storch, Alexander, Stournaras, Christos, Lang, Florian

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Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration von van der Zee, Julie, Van Langenhove, Tim, Kovacs, Gabor G, Dillen, Lubina, Deschamps, William, Engelborghs, Sebastiaan, Matěj, Radoslav, Vandenbulcke, Mathieu, Sieben, Anne, Dermaut, Bart, Smets, Katrien, Van Damme, Philip, Merlin, Céline, Laureys, Annelies, Van Den Broeck, Marleen, Mattheijssens, Maria, Peeters, Karin, Benussi, Luisa, Binetti, Giuliano, Ghidoni, Roberta, Borroni, Barbara, Padovani, Alessandro, Archetti, Silvana, Pastor, Pau, Razquin, Cristina, Ortega-Cubero, Sara, Hernández, Isabel, Boada, Mercè, Ruiz, Agustín, de Mendonça, Alexandre, Miltenberger-Miltényi, Gabriel, do Couto, Frederico Simões, Sorbi, Sandro, Nacmias, Benedetta, Bagnoli, Silvia, Graff, Caroline, Chiang, Huei-Hsin, Thonberg, Håkan, Perneczky, Robert, Diehl-Schmid, Janine, Alexopoulos, Panagiotis, Frisoni, Giovanni B, Bonvicini, Christian, Synofzik, Matthis, Maetzler, Walter, Vom Hagen, Jennifer Müller, Schöls, Ludger, Haack, Tobias B, Strom, Tim M, Prokisch, Holger, Dols-Icardo, Oriol, Clarimón, Jordi, Lleó, Alberto, Santana, Isabel, Almeida, Maria Rosário, Santiago, Beatriz, Heneka, Michael T, Jessen, Frank, Ramirez, Alfredo, Sanchez-Valle, Raquel, Llado, Albert, Gelpi, Ellen, Sarafov, Stayko, Tournev, Ivailo, Jordanova, Albena, Parobkova, Eva, Fabrizi, Gian Maria, Testi, Silvia, Salmon, Eric, Ströbel, Thomas, Santens, Patrick, Robberecht, Wim, De Jonghe, Peter, Martin, Jean-Jacques, Cras, Patrick, Vandenberghe, Rik, De Deyn, Peter Paul, Cruts, Marc, Sleegers, Kristel, Van Broeckhoven, Christine

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Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration von van der Zee, Julie, Van Langenhove, Tim, Kovacs, Gabor G., Dillen, Lubina, Deschamps, William, Engelborghs, Sebastiaan, Matěj, Radoslav, Vandenbulcke, Mathieu, Sieben, Anne, Dermaut, Bart, Smets, Katrien, Van Damme, Philip, Merlin, Céline, Laureys, Annelies, Van Den Broeck, Marleen, Mattheijssens, Maria, Peeters, Karin, Benussi, Luisa, Binetti, Giuliano, Ghidoni, Roberta, Borroni, Barbara, Padovani, Alessandro, Archetti, Silvana, Pastor, Pau, Razquin, Cristina, Ortega-Cubero, Sara, Hernández, Isabel, Boada, Mercè, Ruiz, Agustín, de Mendonça, Alexandre, Miltenberger-Miltényi, Gabriel, do Couto, Frederico Simões, Sorbi, Sandro, Nacmias, Benedetta, Bagnoli, Silvia, Graff, Caroline, Chiang, Huei-Hsin, Thonberg, Håkan, Perneczky, Robert, Diehl-Schmid, Janine, Alexopoulos, Panagiotis, Frisoni, Giovanni B., Bonvicini, Christian, Synofzik, Matthis, Maetzler, Walter, vom Hagen, Jennifer Müller, Schöls, Ludger, Haack, Tobias B., Strom, Tim M., Prokisch, Holger, Dols-Icardo, Oriol, Clarimón, Jordi, Lleó, Alberto, Santana, Isabel, Almeida, Maria Rosário, Santiago, Beatriz, Heneka, Michael T., Jessen, Frank, Ramirez, Alfredo, Sanchez-Valle, Raquel, Llado, Albert, Gelpi, Ellen, Sarafov, Stayko, Tournev, Ivailo, Jordanova, Albena, Parobkova, Eva, Fabrizi, Gian Maria, Testi, Silvia, Salmon, Eric, Ströbel, Thomas, Santens, Patrick, Robberecht, Wim, De Jonghe, Peter, Martin, Jean-Jacques, Cras, Patrick, Vandenberghe, Rik, De Deyn, Peter Paul, Cruts, Marc, Sleegers, Kristel, Van Broeckhoven, Christine

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Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration von van der Zee, Julie, Van Langenhove, Tim, Kovacs, Gabor G, Dillen, Lubina, Deschamps, William, Engelborghs, Sebastiaan, Matěj, Radoslav, Vandenbulcke, Mathieu, Sieben, Anne, Dermaut, Bart, Smets, Katrien, Van Damme, Philip, Merlin, Céline, Laureys, Annelies, Van Den Broeck, Marleen, Mattheijssens, Maria, Peeters, Karin, Benussi, Luisa, Binetti, Giuliano, Ghidoni, Roberta, Borroni, Barbara, Padovani, Alessandro, Archetti, Silvana, Pastor, Pau, Razquin, Cristina, Ortega-Cubero, Sara, Hernández, Isabel, Boada, Mercè, Ruiz, Agustín, de Mendonça, Alexandre, Miltenberger-Miltényi, Gabriel, do Couto, Frederico Simões, Sorbi, Sandro, Nacmias, Benedetta, Bagnoli, Silvia, Graff, Caroline, Chiang, Huei-Hsin, Thonberg, Håkan, Perneczky, Robert, Diehl-Schmid, Janine, Alexopoulos, Panagiotis, Frisoni, Giovanni B, Bonvicini, Christian, Synofzik, Matthis, Maetzler, Walter, Müller vom Hagen, Jennifer, Schöls, Ludger, Haack, Tobias B, Strom, Tim M, Prokisch, Holger, Dols-Icardo, Oriol, Clarimón, Jordi, Lleó, Alberto, Santana, Isabel, Almeida, Maria Rosário, Santiago, Beatriz, Heneka, Michael T, Jessen, Frank, Ramirez, Alfredo, Sanchez-Valle, Raquel, Llado, Albert, Gelpi, Ellen, Sarafov, Stayko, Tournev, Ivailo, Jordanova, Albena, Parobkova, Eva, Fabrizi, Gian Maria, Testi, Silvia, Salmon, Eric, Ströbel, Thomas, Santens, Patrick, Robberecht, Wim, De Jonghe, Peter, Martin, Jean-Jacques, Cras, Patrick, Vandenberghe, Rik, De Deyn, Peter Paul, Cruts, Marc, Sleegers, Kristel, Van Broeckhoven, Christine

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