Αποτελέσματα αναζήτησης - Reichbauer, Jennifer

Uniparental disomy determined by whole‐exome sequencing in a spectrum of rare motoneuron diseases and ataxias από Bis, Dana M., Schüle, Rebecca, Reichbauer, Jennifer, Synofzik, Matthis, Rattay, Tim W., Soehn, Anne, de Jonghe, Peter, Schöls, Ludger, Züchner, Stephan

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Aicardi-Goutières syndrome due to a paternal mosaic IFIH1 mutation από Tüngler, Victoria, Doebler-Neumann, Marion, Salandin, Michaela, Kaufmann, Peter, Wolf, Christine, Lucas, Nadja, Harmuth, Florian, Reichbauer, Jennifer, Krägeloh-Mann, Ingeborg, Schüle, Rebecca, Lee-Kirsch, Min Ae

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Neurofilament light chain is a cerebrospinal fluid biomarker in hereditary spastic paraplegia από Kessler, Christoph, Serna‐Higuita, Lina M., Rattay, Tim W., Maetzler, Walter, Wurster, Isabel, Hayer, Stefanie, Wilke, Carlo, Hengel, Holger, Reichbauer, Jennifer, Armbruster, Marcel, Schöls, Ludger, Martus, Peter, Schüle, Rebecca

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Characteristics of serum neurofilament light chain as a biomarker in hereditary spastic paraplegia type 4 από Kessler, Christoph, Serna‐Higuita, Lina Maria, Wilke, Carlo, Rattay, Tim W., Hengel, Holger, Reichbauer, Jennifer, Stransky, Elke, Leyva‐Gutiérrez, Alejandra, Mengel, David, Synofzik, Matthis, Schöls, Ludger, Martus, Peter, Schüle, Rebecca

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Motor protein mutations cause a new form of hereditary spastic paraplegia από Caballero Oteyza, Andrés, Battaloğlu, Esra, Ocek, Levent, Lindig, Tobias, Reichbauer, Jennifer, Rebelo, Adriana P., Gonzalez, Michael A., Zorlu, Yasar, Ozes, Burcak, Timmann, Dagmar, Bender, Benjamin, Woehlke, Günther, Züchner, Stephan, Schöls, Ludger, Schüle, Rebecca

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Solving unsolved rare neurological diseases—a Solve-RD viewpoint από Schüle, Rebecca, Timmann, Dagmar, Erasmus, Corrie E., Reichbauer, Jennifer, Wayand, Melanie, van de Warrenburg, Bart, Schöls, Ludger, Wilke, Carlo, Bevot, Andrea, Zuchner, Stephan, Beltran, Sergi, Laurie, Steven, Matalonga, Leslie, Graessner, Holm, Synofzik, Matthis

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Correction: Solving unsolved rare neurological diseases—a Solve-RD viewpoint από Schüle, Rebecca, Timmann, Dagmar, Erasmus, Corrie E., Reichbauer, Jennifer, Wayand, Melanie, van de Warrenburg, Bart, Schöls, Ludger, Wilke, Carlo, Bevot, Andrea, Zuchner, Stephan, Beltran, Sergi, Laurie, Steven, Matalonga, Leslie, Graessner, Holm, Synofzik, Matthis

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Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78) από Estrada-Cuzcano, Alejandro, Martin, Shaun, Chamova, Teodora, Synofzik, Matthis, Timmann, Dagmar, Holemans, Tine, Andreeva, Albena, Reichbauer, Jennifer, De Rycke, Riet, Chang, Dae-In, van Veen, Sarah, Samuel, Jean, Schöls, Ludger, Pöppel, Thorsten, Mollerup Sørensen, Danny, Asselbergh, Bob, Klein, Christine, Zuchner, Stephan, Jordanova, Albena, Vangheluwe, Peter, Tournev, Ivailo, Schüle, Rebecca

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Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia από Wagner, Matias, Osborn, Daniel P. S., Gehweiler, Ina, Nagel, Maike, Ulmer, Ulrike, Bakhtiari, Somayeh, Amouri, Rim, Boostani, Reza, Hentati, Faycal, Hockley, Maryam M., Hölbling, Benedikt, Schwarzmayr, Thomas, Karimiani, Ehsan Ghayoor, Kernstock, Christoph, Maroofian, Reza, Müller-Felber, Wolfgang, Ozkan, Ege, Padilla-Lopez, Sergio, Reich, Selina, Reichbauer, Jennifer, Darvish, Hossein, Shahmohammadibeni, Neda, Tafakhori, Abbas, Vill, Katharina, Zuchner, Stephan, Kruer, Michael C., Winkelmann, Juliane, Jamshidi, Yalda, Schüle, Rebecca

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FAHN/SPG35: a narrow phenotypic spectrum across disease classifications από 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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Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia από Farazi Fard, Mohammad Ali, Rebelo, Adriana P., Buglo, Elena, Nemati, Hamid, Dastsooz, Hassan, Gehweiler, Ina, Reich, Selina, Reichbauer, Jennifer, Quintáns, Beatriz, Ordóñez-Ugalde, Andrés, Cortese, Andrea, Courel, Steve, Abreu, Lisa, Powell, Eric, Danzi, Matt, Martuscelli, Nicole B., Bis-Brewer, Dana M., Tao, Feifei, Zarei, Fariba, Habibzadeh, Parham, Yavarian, Majid, Modarresi, Farzaneh, Silawi, Mohammad, Tabatabaei, Zahra, Yousefi, Masoume, Farpour, Hamid Reza, Kessler, Christoph, Mangold, Elisabeth, Kobeleva, Xenia, Mueller, Amelie J., Haack, Tobias B., Tarnopolsky, Mark, Gan-Or, Ziv, Rouleau, Guy A., Synofzik, Matthis, Sobrido, María-Jesús, Jordanova, Albena, Schüle, Rebecca, Zuchner, Stephan, Faghihi, Mohammad Ali

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Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia από Farazi Fard, Mohammad Ali, Rebelo, Adriana P., Buglo, Elena, Nemati, Hamid, Dastsooz, Hassan, Gehweiler, Ina, Reich, Selina, Reichbauer, Jennifer, Quintáns, Beatriz, Ordóñez-Ugalde, Andrés, Cortese, Andrea, Courel, Steve, Abreu, Lisa, Powell, Eric, Danzi, Matt C., Martuscelli, Nicole B., Bis-Brewer, Dana M., Tao, Feifei, Zarei, Fariba, Habibzadeh, Parham, Yavarian, Majid, Modarresi, Farzaneh, Silawi, Mohammad, Tabatabaei, Zahra, Yousefi, Masoume, Farpour, Hamid Reza, Kessler, Christoph, Mangold, Elisabeth, Kobeleva, Xenia, Tournev, Ivailo, Chamova, Teodora, Mueller, Amelie J., Haack, Tobias B., Tarnopolsky, Mark, Gan-Or, Ziv, Rouleau, Guy A., Synofzik, Matthis, Sobrido, María-Jesús, Jordanova, Albena, Schüle, Rebecca, Zuchner, Stephan, Faghihi, Mohammad Ali

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Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia από Minnerop, Martina, Kurzwelly, Delia, Wagner, Holger, Soehn, Anne S, Reichbauer, Jennifer, Tao, Feifei, Rattay, Tim W, Peitz, Michael, Rehbach, Kristina, Giorgetti, Alejandro, Pyle, Angela, Thiele, Holger, Altmüller, Janine, Timmann, Dagmar, Karaca, Ilker, Lennarz, Martina, Baets, Jonathan, Hengel, Holger, Synofzik, Matthis, Atasu, Burcu, Feely, Shawna, Kennerson, Marina, Stendel, Claudia, Lindig, Tobias, Gonzalez, Michael A, Stirnberg, Rüdiger, Sturm, Marc, Roeske, Sandra, Jung, Johanna, Bauer, Peter, Lohmann, Ebba, Herms, Stefan, Heilmann-Heimbach, Stefanie, Nicholson, Garth, Mahanjah, Muhammad, Sharkia, Rajech, Carloni, Paolo, Brüstle, Oliver, Klopstock, Thomas, Mathews, Katherine D, Shy, Michael E, de Jonghe, Peter, Chinnery, Patrick F, Horvath, Rita, Kohlhase, Jürgen, Schmitt, Ina, Wolf, Michael, Greschus, Susanne, Amunts, Katrin, Maier, Wolfgang, Schöls, Ludger, Nürnberg, Peter, Zuchner, Stephan, Klockgether, Thomas, Ramirez, Alfredo, Schüle, Rebecca

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