Verfahren zum autonomen Betrieb eines Krans, autonom betreibbarer Kran sowie Nachrüst-Set zur Realisierung eines autonom arbeitenden Krans von Jehn, Robin, Lau, Boris, Eickmeier, Lars, Neusch-Fredani, Giulio, Busemann, Bolko, Perschmann, Axel, Diederichsen, Jan Rasmus, Schöls, Tobias, Vloet, Hendrik, Kindler, Jonas, George, Victor Vadakechirayath, Geiger, Karl, Eilers, Stefan, Berroa, John, God, Lukas, Kundoch, Thorsten, Schaub, Linus, Hofmeier, Peter, Lange, Sascha, Oswald, Joel, Höreth, Alexander, Höfle, Sebastian, Nußberger, Jens

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METHOD FOR AUTONOMOUS OPERATION OF A CRANE, AUTONOMOUSLY OPERATED CRANE AND RETROFIT KIT FOR PRODUCING AN AUTONOMOUSLY WORKING CRANE von GEIGER, Karl, KINDLER, Jonas, HOFMEIER, Peter, BERROA, John, HÖFLE, Sebsatina, BUSEMANN, Bolko, SCHAUB, Linus, HÖRETH, Alexander, JEHN, Robin, EICKMEIER, Lars, GEORGE, Victor Vadakechirayath, OSWALD, Joel, SCHÖLS, Tobias, VLOET, Hendrik, PERSCHMANN, Axel, DIEDERICHSEN, Jan Rasmus, NUSSBERGER, Jens, LANGE, Sascha, EILERS, Stefan, LAU, Boris, GOD, Lukas, NEUSCH-FREDANI, Giulio, KUNDOCH, Thorsten

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Absence of BiP Co-chaperone DNAJC3 Causes Diabetes Mellitus and Multisystemic Neurodegeneration von Synofzik, Matthis, Haack, Tobias B., Kopajtich, Robert, Gorza, Matteo, Rapaport, Doron, Greiner, Markus, Schönfeld, Caroline, Freiberg, Clemens, Schorr, Stefan, Holl, Reinhard W., Gonzalez, Michael A., Fritsche, Andreas, Fallier-Becker, Petra, Zimmermann, Richard, Strom, Tim M., Meitinger, Thomas, Züchner, Stephan, Schüle, Rebecca, Schöls, Ludger, Prokisch, Holger

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The prodromal phase of hereditary spastic paraplegia type 4: the preSPG4 cohort study von Rattay, Tim W, Völker, Maximilian, Rautenberg, Maren, Kessler, Christoph, Wurster, Isabel, Winter, Natalie, Haack, Tobias B, Lindig, Tobias, Hengel, Holger, Synofzik, Matthis, Schüle, Rebecca, Martus, Peter, Schöls, Ludger

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Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum von Synofzik, Matthis, Soehn, Anne S, Gburek-Augustat, Janina, Schicks, Julia, Karle, Kathrin N, Schüle, Rebecca, Haack, Tobias B, Schöning, Martin, Biskup, Saskia, Rudnik-Schöneborn, Sabine, Senderek, Jan, Hoffmann, Karl-Titus, MacLeod, Patrick, Schwarz, Johannes, Bender, Benjamin, Krüger, Stefan, Kreuz, Friedmar, Bauer, Peter, Schöls, Ludger

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FAHN/SPG35: a narrow phenotypic spectrum across disease classifications von Rattay, Tim W, Lindig, Tobias, Baets, Jonathan, Smets, Katrien, Deconinck, Tine, Söhn, Anne S, Hörtnagel, Konstanze, Eckstein, Kathrin N, Wiethoff, Sarah, Reichbauer, Jennifer, Döbler-Neumann, Marion, Krägeloh-Mann, Ingeborg, Auer-Grumbach, Michaela, Plecko, Barbara, Münchau, Alexander, Wilken, Bernd, Janauschek, Marc, Giese, Anne-Katrin, De Bleecker, Jan L, Ortibus, Els, Debyser, Martine, Lopez de Munain, Adolfo, Pujol, Aurora, Bassi, Maria Teresa, D'Angelo, Maria Grazia, De Jonghe, Peter, Züchner, Stephan, Bauer, Peter, Schöls, Ludger, Schüle, Rebecca

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Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease von Traschütz, Andreas, Cortese, Andrea, Reich, Selina, Dominik, Natalia, Faber, Jennifer, Jacobi, Heike, Hartmann, Annette M., Rujescu, Dan, Montaut, Solveig, Echaniz-Laguna, Andoni, Erer, Sevda, Schütz, Valerie Cornelia, Tarnutzer, Alexander A., Sturm, Marc, Haack, Tobias B., Vaucamps-Diedhiou, Nadège, Puccio, Helene, Schöls, Ludger, Klockgether, Thomas, van de Warrenburg, Bart P., Paucar, Martin, Timmann, Dagmar, Hilgers, Ralf-Dieter, Gazulla, Jose, Strupp, Michael, Moris, German, Filla, Alessandro, Houlden, Henry, Anheim, Mathieu, Infante, Jon, Basak, A. Nazli, Synofzik, Matthis

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Bi-allelic truncating mutations in VWA1 cause neuromyopathy von Deschauer, Marcus, Hengel, Holger, Rupprich, Katrin, Kreiß, Martina, Schlotter-Weigel, Beate, Grimmel, Mona, Admard, Jakob, Schneider, Ilka, Alhaddad, Bader, Gazou, Anastasia, Sturm, Marc, Vorgerd, Matthias, Balousha, Ghassan, Balousha, Osama, Falna, Mohammed, Kirschke, Jan S, Kornblum, Cornelia, Jordan, Berit, Kraya, Torsten, Strom, Tim M, Weis, Joachim, Schöls, Ludger, Schara, Ulrike, Zierz, Stephan, Riess, Olaf, Meitinger, Thomas, Haack, Tobias B

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Proof of principle for the clinical use of a CE-certified automatic imaging analysis tool in rare diseases studying hereditary spastic paraplegia type 4 (SPG4) von Lindig, Tobias, Bender, Benjamin, Bürkle, Eva, Kumar, Vinod, Ernemann, Ulrike, Schöls, Ludger, Rattay, Tim W.

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As Frequent as Polyglutamine Spinocerebellar Ataxias: SCA27B in a Large German Autosomal Dominant Ataxia Cohort von Hengel, Holger, Pellerin, David, Wilke, Carlo, Fleszar, Zofia, Brais, Bernard, Haack, Tobias, Traschütz, Andreas, Schöls, Ludger, Synofzik, Matthis

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Short-read genome sequencing allows ‘en route’ diagnosis of patients with atypical Friedreich ataxia von Fleszar, Zofia, Dufke, Claudia, Sturm, Marc, Schüle, Rebecca, Schöls, Ludger, Haack, Tobias B., Synofzik, Matthis

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PNPLA6 mutations cause Boucher-Neuhäuser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum von SYNOFZIK, Matthis, GONZALEZ, Michael A, DURR, Alexandra, SCHÖLS, Ludger, LIMA-MARTINEZ, Marcos M, FAROOQ, Amjad, SCHÜLE, Rebecca, STEVANIN, Giovanni, MARQUES, Wilson, ZÜCHNER, Stephan, LOURENCO, Charles Marques, COUTELIER, Marie, HAACK, Tobias B, REBELO, Adriana, HANNEQUIN, Didier, STROM, Tim M, PROKISCH, Holger, KERNSTOCK, Christoph

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Predicting clinical phenotypes of metachromatic leukodystrophy based on the arylsulfatase A activity and the ARSA genotype? – Chances and challenges von Santhanakumaran, Vidiyaah, Groeschel, Samuel, Harzer, Klaus, Kehrer, Christiane, Elgün, Saskia, Beck-Wödl, Stefanie, Hengel, Holger, Schöls, Ludger, Haack, Tobias B., Krägeloh-Mann, Ingeborg, Laugwitz, Lucia

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Autosomal Recessive Cerebellar Ataxias in Europe: Frequency, Onset, and Severity in 677 Patients von Traschütz, Andreas, Adarmes‐Gomez, Astrid D., Anheim, Mathieu, Baets, Jonathan, Falkenburger, Björn H., Gburek‐Augustat, Janina, Doss, Sarah, Kamm, Christoph, Klivenyi, Peter, Grobe‐Einsler, Marcus, Klopstock, Thomas, Minnerop, Martina, Münchau, Alexander, Pane, Chiara, Renaud, Mathilde, Santorelli, Filippo M., Schöls, Ludger, Timmann, Dagmar, Vielhaber, Stefan, Haack, Tobias B., Warrenburg, Bart P., Zanni, Ginevra, Synofzik, Matthis

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Vitamin D3 deficiency and osteopenia in spastic paraplegia type 5 indicate impaired bone homeostasis von Ehnert, Sabrina, Hauser, Stefan, Hengel, Holger, Höflinger, Philip, Schüle, Rebecca, Lindig, Tobias, Baets, Jonathan, Deconinck, Tine, de Jonghe, Peter, Histing, Tina, Nüssler, Andreas K., Schöls, Ludger, Rattay, Tim W.

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Correspondence on “Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment” by Roux... von Park, Joohyun, Deininger, Natalie, Rautenberg, Maren, Saft, Carsten, Harmuth, Florian, Sturm, Marc, Riess, Olaf, Schöls, Ludger, Synofzik, Matthis, Haack, Tobias B.

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First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery von Hengel, Holger, Buchert, Rebecca, Sturm, Marc, Haack, Tobias B., Schelling, Yvonne, Mahajnah, Muhammad, Sharkia, Rajech, Azem, Abdussalam, Balousha, Ghassan, Ghanem, Zaid, Falana, Mohammed, Balousha, Osama, Ayesh, Suhail, Keimer, Reinhard, Deigendesch, Werner, Zaidan, Jimmy, Marzouqa, Hiyam, Bauer, Peter, Schoels, Ludger

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Spastic paraplegia mutation N256S in the neuronal microtubule motor KIF5A disrupts axonal transport in a Drosophila HSP model von Füger, Petra, Sreekumar, Vrinda, Schüle, Rebecca, Kern, Jeannine V, Stanchev, Doychin T, Schneider, Carola D, Karle, Kathrin N, Daub, Katharina J, Siegert, Vera K, Flötenmeyer, Matthias, Schwarz, Heinz, Schöls, Ludger, Rasse, Tobias M

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Corrigendum to “Predicting clinical phenotypes of metachromatic leukodystrophy based on the arylsulfatase A activity and the ARSA genotype? – Chances and challenges” Mol Genet Meta... von Santhanakumaran, Vidiyaah, Groeschel, Samuel, Harzer, Klaus, Kehrer, Christiane, Elgün, Saskia, Beck-Wödl, Stefanie, Hengel, Holger, Schöls, Ludger, Haack, Tobias B., Krägeloh-Mann, Ingeborg, Laugwitz, Lucia

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First case of adult onset neuronal intranuclear inclusion disease with both typical radiological signs and NOTCH2NLC repeat expansions in a Caucasian individual von Podar, Iulian V., Gutmann, Daniel A. P., Harmuth, Florian, Haack, Tobias B., Ossowski, Stephan, Hengel, Holger, Bornemann, Antje, Schöls, Ludger, Neuhaus, Oliver

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