Torthaí cuardaigh - Hengel, Holger
- 1 - 20 toradh as 24 á dtaispeáint
- Téigh chuig an gcéad leathanach eile
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Parental mosaicism in another case of Dravet syndrome caused by a novel SCN1A deletion: a case report de réir Sharkia, Rajech, Hengel, Holger, Schöls, Ludger, Athamna, Muhammad, Bauer, Peter, Mahajnah, Muhammad
Foilsithe / Cruthaithe 2016Téacs -
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Serum neurofilament light chain is increased in hereditary spastic paraplegias de réir Wilke, Carlo, Rattay, Tim W., Hengel, Holger, Zimmermann, Milan, Brockmann, Kathrin, Schöls, Ludger, Kuhle, Jens, Schüle, Rebecca, Synofzik, Matthis
Foilsithe / Cruthaithe 2018Téacs -
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Characterization of cognitive impairment in adult polyglucosan body disease de réir Zebhauser, Paul Theo, Cordts, Isabell, Hengel, Holger, Haslinger, Bernhard, Lingor, Paul, Akman, Hasan Orhan, Haack, Tobias B., Deschauer, Marcus
Foilsithe / Cruthaithe 2022Téacs -
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Reply: POLR3A variants in hereditary spastic paraplegia and ataxia de réir Minnerop, Martina, Kurzwelly, Delia, Rattay, Tim W, Timmann, Dagmar, Hengel, Holger, Synofzik, Matthis, Stendel, Claudia, Horvath, Rita, Schüle, Rebecca, Ramirez, Alfredo
Foilsithe / Cruthaithe 2018Téacs -
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Nerve ultrasound characterizes AMN polyneuropathy as inhomogeneous and focal hypertrophic de réir Rattay, Tim W., Just, Jennifer, Röben, Benjamin, Hengel, Holger, Schüle, Rebecca, Synofzik, Matthis, Söhn, Anne S., Winter, Natalie, Dammeier, Nele, Schöls, Ludger, Grimm, Alexander
Foilsithe / Cruthaithe 2018Téacs -
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Levels of Neurofilament Light at the Preataxic and Ataxic Stages of Spinocerebellar Ataxia Type 1 de réir Wilke, Carlo, Mengel, David, Schöls, Ludger, Hengel, Holger, Rakowicz, Maria, Klockgether, Thomas, Durr, Alexandra, Filla, Alessandro, Melegh, Bela, Schüle, Rebecca, Reetz, Kathrin, Jacobi, Heike, Synofzik, Matthis
Foilsithe / Cruthaithe 2022Téacs -
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Neurofilament light chain is a cerebrospinal fluid biomarker in hereditary spastic paraplegia de réir 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
Foilsithe / Cruthaithe 2021Téacs -
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Characteristics of serum neurofilament light chain as a biomarker in hereditary spastic paraplegia type 4 de réir 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
Foilsithe / Cruthaithe 2022Téacs -
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CNTNAP1 mutations cause CNS hypomyelination and neuropathy with or without arthrogryposis de réir Hengel, Holger, Magee, Alex, Mahanjah, Muhammad, Vallat, Jean-Michel, Ouvrier, Robert, Abu-Rashid, Mohammad, Mahamid, Jamal, Schüle, Rebecca, Schulze, Martin, Krägeloh-Mann, Ingeborg, Bauer, Peter, Züchner, Stephan, Sharkia, Rajech, Schöls, Ludger
Foilsithe / Cruthaithe 2017Téacs -
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Defining diagnostic cutoffs in neurological patients for serum very long chain fatty acids (VLCFA) in genetically confirmed X-Adrenoleukodystrophy de réir Rattay, Tim W., Rautenberg, Maren, Söhn, Anne S., Hengel, Holger, Traschütz, Andreas, Röben, Benjamin, Hayer, Stefanie N., Schüle, Rebecca, Wiethoff, Sarah, Zeltner, Lena, Haack, Tobias B., Cegan, Alexander, Schöls, Ludger, Schleicher, Erwin, Peter, Andreas
Foilsithe / Cruthaithe 2020Téacs -
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Structures of Merkel Cell Polyomavirus VP1 Complexes Define a Sialic Acid Binding Site Required for Infection de réir Neu, Ursula, Hengel, Holger, Blaum, Bärbel S., Schowalter, Rachel M., Macejak, Dennis, Gilbert, Michel, Wakarchuk, Warren W., Imamura, Akihiro, Ando, Hiromune, Kiso, Makoto, Arnberg, Niklas, Garcea, Robert L., Peters, Thomas, Buck, Christopher B., Stehle, Thilo
Foilsithe / Cruthaithe 2012Téacs -
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Safety and Efficacy of Acetyl-DL-Leucine in Certain Types of Cerebellar Ataxia: The ALCAT Randomized Clinical Crossover Trial de réir Feil, Katharina, Adrion, Christine, Boesch, Sylvia, Doss, Sarah, Giordano, Ilaria, Hengel, Holger, Jacobi, Heike, Klockgether, Thomas, Klopstock, Thomas, Nachbauer, Wolfgang, Schöls, Ludger, Steiner, Katharina Marie, Stendel, Claudia, Timmann, Dagmar, Naumann, Ivonne, Mansmann, Ulrich, Strupp, Michael
Foilsithe / Cruthaithe 2021Téacs -
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PolyQ-expanded ataxin-3 protein levels in peripheral blood mononuclear cells correlate with clinical parameters in SCA3: a pilot study de réir Gonsior, Kathrin, Kaucher, Gabriele Anna, Pelz, Patrik, Schumann, Dorothea, Gansel, Melanie, Kuhs, Sandra, Klockgether, Thomas, Forlani, Sylvie, Durr, Alexandra, Hauser, Stefan, Rattay, Tim W., Synofzik, Matthis, Hengel, Holger, Schöls, Ludger, Rieß, Olaf H., Hübener-Schmid, Jeannette
Foilsithe / Cruthaithe 2020Téacs -
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Metabolic profiling in serum, cerebrospinal fluid, and brain of patients with cerebrotendinous xanthomatosis de réir Höflinger, Philip, Hauser, Stefan, Yutuc, Eylan, Hengel, Holger, Griffiths, Lauren, Radelfahr, Florentine, Howell, Owain W., Wang, Yuqin, Connor, Sonja L., Duell, P. Barton, DeBarber, Andrea E., Martus, Peter, Lütjohann, Dieter, Griffiths, William J., Schöls, Ludger
Foilsithe / Cruthaithe 2021Téacs -
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First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery de réir 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, Schöls, Ludger
Foilsithe / Cruthaithe 2020Téacs -
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Correction to: First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery de réir 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, Schöls, Ludger
Foilsithe / Cruthaithe 2021Téacs -
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Effects of acetyl-DL-leucine on cerebellar ataxia (ALCAT trial): study protocol for a multicenter, multinational, randomized, double-blind, placebo-controlled, crossover phase III... de réir Feil, Katharina, Adrion, Christine, Teufel, Julian, Bösch, Sylvia, Claassen, Jens, Giordano, Ilaria, Hengel, Holger, Jacobi, Heike, Klockgether, Thomas, Klopstock, Thomas, Nachbauer, Wolfgang, Schöls, Ludger, Stendel, Claudia, Uslar, Ellen, van de Warrenburg, Bart, Berger, Ingrid, Naumann, Ivonne, Bayer, Otmar, Müller, Hans-Helge, Mansmann, Ulrich, Strupp, Michael
Foilsithe / Cruthaithe 2017Téacs -
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Cerebrospinal fluid findings in patients with psychotic symptoms—a retrospective analysis de réir Rattay, Tim W., Martin, Pascal, Vittore, Debora, Hengel, Holger, Cebi, Idil, Tünnerhoff, Johannes, Stefanou, Maria-Ioanna, Hoffmann, Jonatan F., von der Ehe, Katrin, Klaus, Johannes, Vonderschmitt, Julia, Herrmann, Matthias L., Bombach, Paula, Al Barazi, Hazar, Zeltner, Lena, Richter, Janina, Hesse, Klaus, Eckstein, Kathrin N., Klingberg, Stefan, Wildgruber, Dirk
Foilsithe / Cruthaithe 2021Téacs -
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Neurofilaments in spinocerebellar ataxia type 3: blood biomarkers at the preataxic and ataxic stage in humans and mice de réir Wilke, Carlo, Haas, Eva, Reetz, Kathrin, Faber, Jennifer, Garcia‐Moreno, Hector, Santana, Magda M, van de Warrenburg, Bart, Hengel, Holger, Lima, Manuela, Filla, Alessandro, Durr, Alexandra, Melegh, Bela, Masciullo, Marcella, Infante, Jon, Giunti, Paola, Neumann, Manuela, de Vries, Jeroen, Pereira de Almeida, Luis, Rakowicz, Maria, Jacobi, Heike, Schüle, Rebecca, Kaeser, Stephan A, Kuhle, Jens, Klockgether, Thomas, Schöls, Ludger, Barro, Christian, Hübener‐Schmid, Jeannette, Synofzik, Matthis
Foilsithe / Cruthaithe 2020Téacs