Kết quả tìm kiếm - Holger Hengel

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  1. 1
    As Frequent as Polyglutamine Spinocerebellar Ataxias: <scp>SCA27B</scp> in a Large German Autosomal Dominant Ataxia Cohort

    As Frequent as Polyglutamine Spinocerebellar Ataxias: <scp>SCA27B</scp> in a Large German Autosomal Dominant Ataxia Cohort Bằng Holger Hengel, David Pellerin, Carlo Wilke, Zofia Fleszar, Bernard Brais, Tobias B. Haack, Andreas Traschütz, Lüdger Schöls, Matthis Synofzik

    Được phát hành 2023
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    Carta
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  2. 2
    Predicting clinical phenotypes of metachromatic leukodystrophy based on the arylsulfatase A activity and the ARSA genotype? – Chances and challenges

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

    Được phát hành 2022
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    Artigo
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  3. 3
    <scp>FARS‐ADL</scp> across Ataxias: Construct Validity, Sensitivity to Change, and Minimal Important Change

    <scp>FARS‐ADL</scp> across Ataxias: Construct Validity, Sensitivity to Change, and Minimal Important Change Bằng Andreas Traschütz, Zofia Fleszar, Holger Hengel, Thomas Klockgether, Friedrich Erdlenbruch, Björn Falkenburger, Thomas Klopstock, Özgür Öztop Çakmak, José Luiz Pedroso, Filippo M. Santorelli, Lüdger Schöls, Matthis Synofzik

    Được phát hành 2024
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    Artigo
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  4. 4
    Digital Gait Biomarkers Allow to Capture 1‐Year Longitudinal Change in Spinocerebellar Ataxia Type 3

    Digital Gait Biomarkers Allow to Capture 1‐Year Longitudinal Change in Spinocerebellar Ataxia Type 3 Bằng Winfried Ilg, Björn Müller, Jennifer Faber, Judith van Gaalen, Holger Hengel, Ina R. Vogt, Guido Hennes, Bart P.C. van de Warrenburg, Thomas Klockgether, Lüdger Schöls, Matthis Synofzik

    Được phát hành 2022
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    Artigo
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  5. 5
    Defining diagnostic cutoffs in neurological patients for serum very long chain fatty acids (VLCFA) in genetically confirmed X-Adrenoleukodystrophy

    Defining diagnostic cutoffs in neurological patients for serum very long chain fatty acids (VLCFA) in genetically confirmed X-Adrenoleukodystrophy Bằng Tim W. Rattay, Maren Rautenberg, Anne S. Söhn, Holger Hengel, Andreas Traschütz, Benjamin Röben, Stefanie N. Hayer, Rebecca Schüle, Sarah Wiethoff, Lena Zeltner, Tobias B. Haack, Alexander Čegan, Lüdger Schöls, Erwin Schleicher, Andreas Peter

    Được phát hành 2020
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    Artigo
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  6. 6
    Structures of Merkel Cell Polyomavirus VP1 Complexes Define a Sialic Acid Binding Site Required for Infection

    Structures of Merkel Cell Polyomavirus VP1 Complexes Define a Sialic Acid Binding Site Required for Infection Bằng Ursula Neu, Holger Hengel, Bärbel S. Blaum, Rachel M. Schowalter, Dennis G. Macejak, Michel Gilbert, Warren W. Wakarchuk, Akihiro Imamura, Hiromune Ando, Makoto Kiso, Niklas Arnberg, Robert L. Garcea, Thomas Peters, Christopher B. Buck, Thilo Stehle

    Được phát hành 2012
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    Artigo
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  7. 7
    Polyglutamine-expanded ataxin-3: a target engagement marker for Spinocerebellar ataxia type 3 in peripheral blood

    Polyglutamine-expanded ataxin-3: a target engagement marker for Spinocerebellar ataxia type 3 in peripheral blood Bằng Jeannette Hübener‐Schmid, Kirsten Kuhlbrodt, Julien Peladan, Jennifer Faber, Magda M. Santana, Holger Hengel, Heike Jacobi, Kathrin Reetz, Héctor García‐Moreno, Mafalda Raposo, Judith van Gaalen, Jon Infante, Katharina M. Steiner, Jeroen de Vries, Marcel M. Verbeek, Paola Giunti, Luís Pereira de Almeida, Manuela Lima, Bart van de Warrenburg, Lüdger Schöls, Thomas Klockgether, Matthis Synofzik, Olaf Rieß

    Được phát hành 2021
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    Pré-impressão
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  8. 8
    Conversion of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 to manifest ataxia (RISCA): a longitudinal cohort study

    Conversion of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 to manifest ataxia (RISCA): a longitudinal cohort study Bằng Heike Jacobi, Sophie Tézenas du Montcel, Sandro Romanzetti, Florian Harmuth, Caterina Mariotti, Lorenzo Nanetti, Maria Rakowicz, Grzegorz Makowicz, Alexandra Dürr, Marie-Lorraine Monin, Alessandro Filla, Alessandro Roca, Lüdger Schöls, Holger Hengel, Jon Infante, Jun-Suk Kang, Dagmar Timmann, Carlo Casali, Marcella Masciullo, László Balikó, Béla Melegh, Wolfgang Nachbauer, Katrin Bürk-Gergs, Jörg B. Schulz, Olaf Rieß, Kathrin Reetz, Thomas Klockgether

    Được phát hành 2020
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    Artigo
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  9. 9
    Survival in patients with spinocerebellar ataxia types 1, 2, 3, and 6 (EUROSCA): a longitudinal cohort study

    Survival in patients with spinocerebellar ataxia types 1, 2, 3, and 6 (EUROSCA): a longitudinal cohort study Bằng Alhassane Diallo, Heike Jacobi, Arron Cook, Robyn Labrum, Alexandra Dürr, Alexis Brice, Perrine Charles, Cécilia Marelli, Caterina Mariotti, Lorenzo Nanetti, Marta Panzeri, Maria Rakowicz, Anna Sobańska, Anna Sułek, Tanja Schmitz‐Hübsch, Lüdger Schöls, Holger Hengel, Béla Melegh, Alessandro Filla, Antonella Antenora, Jon Infante, José Berciano, Bart P.C. van de Warrenburg, Dagmar Timmann, Sylvia Boesch, Massimo Pandolfo, Jörg B. Schulz, Peter Bauer, Paola Giunti, Jun-Suk Kang, Thomas Klockgether, Sophie Tézenas du Montcel

    Được phát hành 2018
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    Artigo
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  10. 10
    Regional Brain and Spinal Cord Volume Loss in Spinocerebellar Ataxia Type 3

    Regional Brain and Spinal Cord Volume Loss in Spinocerebellar Ataxia Type 3 Bằng Jennifer Faber, Tamara Schaprian, Koyak Berkan, Kathrin Reetz, Marcondes C. França, Thiago Junqueira Ribeiro de Rezende, Hong Jiang, Weihua Liao, Bart P.C. van de Warrenburg, Judith van Gaalen, Alexandra Dürr, Fanny Mochel, Paola Giunti, Héctor García‐Moreno, Ludger Schoels, Holger Hengel, Matthis Synofzik, Benjamin Bender, Gülin Öz, James M. Joers, J.J. de Vries, Jun‐Suk Kang, Dagmar Timmann‐Braun, Heike Jacobi, Jon Infante, Richard Joules, Sandro Romanzetti, Jörn Diedrichsen, Matthias Schmid, Robin Wolz, Thomas Klockgether

    Được phát hành 2021
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    Artigo
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  11. 11
    Neurofilaments in spinocerebellar ataxia type 3: blood biomarkers at the preataxic and ataxic stage in humans and mice

    Neurofilaments in spinocerebellar ataxia type 3: blood biomarkers at the preataxic and ataxic stage in humans and mice Bằng Carlo Wilke, Eva Haas, Kathrin Reetz, Jennifer Faber, Héctor García‐Moreno, Magda M. Santana, Bart van de Warrenburg, Holger Hengel, Manuela Lima, Alessandro Filla, Alexandra Dürr, Béla Melegh, Marcella Masciullo, Jon Infante, Paola Giunti, Manuela Neumann, Jeroen de Vries, Luís Pereira de Almeida, Maria Rakowicz, Heike Jacobi, Rebecca Schüle, Stephan A. Kaeser, Jens Kühle, Thomas Klockgether, Lüdger Schöls, Christian Barro, Jeannette Hübener‐Schmid, Matthis Synofzik, Christian Deuschle, Elke Stransky, Kathrin Brockmann, Jörg B. Schulz, László Balikó, Judith van Gaalen, Mafalda Raposo, Andreas Jeromin

    Được phát hành 2020
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    Artigo
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  12. 12
    Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia

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

    Được phát hành 2017
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    Artigo
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  13. 13
    Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing

    Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing Bằng Wouter Steyaert, Lydia Sagath, German Demidov, Vicente A. Yépez, Anna Esteve‐Codina, Julien Gagneur, Kornelia Ellwanger, Ronny Derks, Marjan M. Weiss, Amber den Ouden, Simone van den Heuvel, Hilde Swinkels, Nick Zomer, Marloes Steehouwer, Luke O’Gorman, Galuh Astuti, Kornelia Neveling, Rebecca Schüle, Jishu Xu, Matthis Synofzik, Danique Beijer, Holger Hengel, Lüdger Schöls, Kristl G. Claeys, Jonathan Baets, Liedewei Van de Vondel, Alessandra Ferlini, Rita Selvatici, Heba Morsy, Marwa Saeed Abd Elmaksoud, Volker Straub, Juliane Müller, Veronica Pini, Luke Perry, Anna Sárközy, Irina Zaharieva, Francesco Muntoni, Enrico Bugiardini, Kiran Polavarapu, Rita Horváth, Evan Reid, Hanns Lochmüller, Marco Spinazzi, Marco Savarese, Leslie Matalonga, Steven Laurie, Han G. Brunner, Holm Graeßner, Sergi Beltrán, Stephan Ossowski, Lisenka E.L.M. Vissers, Christian Gilissen, Alexander Hoischen

    Được phát hành 2024
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    Pré-impressão
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  14. 14
    Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

    Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy Bằng Holger Hengel, Célia Bosso-Lefèvre, George Grady, Emmanuelle Szenker‐Ravi, Hankun Li, Sarah B. Pierce, Élise Lebigot, Thong-Teck Tan, Michelle Eio, Gunaseelan Narayanan, Kagistia Hana Utami, Monica Yau, Nader Handal, Werner Deigendesch, Reinhard Keimer, Hiyam Marzouqa, Meral Gunay‐Aygun, Michael Muriello, Hélène Verhelst, Sarah Weckhuysen, Sonal Mahida, Sakkubai Naidu, Terrence Thomas, Jiin Ying Lim, Ee Shien Tan, Damien Haye, Michèl A.A.P. Willemsen, Renske Oegema, Wendy G. Mitchell, Tyler Mark Pierson, Marisa V. Andrews, Marcia Willing, Lance H. Rodan, Tahsin Stefan Barakat, Marjon van Slegtenhorst, Ralitza H. Gavrilova, Diego Martinelli, Tal Gilboa, Abdullah Tamim, Mais Hashem, Moeenaldeen AlSayed, Maha Abdulrahim, Mohammed Al‐Owain, Ali Awaji, Adel Mahmoud, Eissa Faqeih, Ali Al Asmari, Sulwan Algain, Lamyaa Jad, Hesham Aldhalaan, Ingo Helbig, David A. Koolen, Angelika Rieß, Ingeborg Kraegeloh‐Mann, Peter Bauer, Süleyman Gülsüner, Hannah Stamberger, Alvin Yu Jin Ng, Sha Tang, Sumanty Tohari, Boris Keren, Laura Schultz‐Rogers, Eric W. Klee, Sabina Barresi, Marco Tartaglia, Hagar Mor‐Shaked, Sateesh Maddirevula, Amber Begtrup, Aida Telegrafi, Rolph Pfundt, Rebecca Schüle, Brian Ciruna, Carine Bonnard, Mahmoud A. Pouladi, James Stewart, Adam Claridge‐Chang, Dirk J. Lefeber, Fowzan S. Alkuraya, Ajay S. Mathuru, Byrappa Venkatesh, Joseph Barycki, Melanie A. Simpson, Saumya Shekhar Jamuar, Lüdger Schöls, Bruno Reversade

    Được phát hành 2020
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    Artigo
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  15. 15
    Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

    Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases Bằng Birte Zurek, Kornelia Ellwanger, Lisenka E.L.M. Vissers, Rebecca Schüle, Matthis Synofzik, Ana Töpf, Richarda M. de Voer, Steven Laurie, Leslie Matalonga, Christian Gilissen, Stephan Ossowski, Peter A.C. ‘t Hoen, Antonio Vitobello, Julia M. Schulze‐Hentrich, Olaf Rieß, Han G. Brunner, Anthony J. Brookes, Ana Rath, Gisèle Bonne, Gulcin Gumus, Alain Verloès, Nicoline Hoogerbrugge, Teresinha Evangelista, Tina Harmuth, Morris A. Swertz, Dylan Spalding, Alexander Hoischen, Sergi Beltrán, Holm Graeßner, Tobias B. Haack, Birte Zurek, Kornelia Ellwanger, German Demidov, Marc Sturm, Christoph Keßler, Melanie Wayand, Carlo Wilke, Andreas Traschütz, Lüdger Schöls, Holger Hengel, Peter Heutink, Han G. Brunner, Hans Scheffer, Wouter Steyaert, Karolis Sablauskas, Richarda M. de Voer, Erik-Jan Kamsteeg, Bart van de Warrenburg, Nienke van Os, Iris te Paske, Erik Janssen, Elke de Boer, Marloes Steehouwer, Burcu Yaldız, Tjitske Kleefstra, Colin Veal, Spencer Gibson, Marc Wadsley, Mehdi Mehtarizadeh, Umar Riaz, Greg Warren, Farid Yavari Dizjikan, Thomas Shorter, Volker Straub, Chiara Marini Bettolo, Sabine Specht, Jill Clayton‐Smith, Siddharth Banka, Elizabeth Alexander, Adam Jackson, Laurence Faivre, Christel Thauvin, Antonio Vitobello, Anne‐Sophie Denommé‐Pichon, Yannis Duffourd, Émilie Tisserant, Ange‐Line Bruel, Christine Peyron, Aurore Pélissier, Sergi Beltrán, Marta Gut, Steven Laurie, Davide Piscia, Leslie Matalonga, Anastasios Papakonstantinou, Gemma Bullich, Alberto Corvò, Carles García, Marcos Fernandez-Callejo, Carles Hernández-Ferrer, Daniel Picó, Ida Paramonov, Hanns Lochmüller, Gulcin Gumus, Virginie Bros‐Facer, Marc Hanauer, Annie Olry, David Lagorce, Svitlana Havrylenko, Katia Izem

    Được phát hành 2021
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    Artigo
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  16. 16
    Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses

    Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses Bằng Steven Laurie, Iris te Paske, Nienke van Os, Kiran Polavarapu, Nika Schuermans, Anna Sommer, German Demidov, Kornelia Ellwanger, Marcos Fernandez-Callejo, Coline Thomas, Stefan Aretz, Jonathan Baets, Elisa Benetti, Gemma Bullich, Patrick F. Chinnery, Jordi Díaz‐Manera, Enzo Cohen, Daniel Daniš, Jean‐Madeleine de Sainte Agathe, Anne‐Sophie Denommé‐Pichon, Jordi Díaz‐Manera, Stéphanie Efthymiou, Laurence Faivre, Marcos Fernandez-Callejo, Mallory Freeberg, José Garcia‐Pelaez, Léna Guillot‐Noël, Tobias B. Haack, Michael G. Hanna, Holger Hengel, Rita Horváth, Henry Houlden, Adam Jackson, Lennart Johansson, Anna Marcé‐Grau, Erik-Jan Kamsteeg, Melanie Kellner, Elke de Boer, Didier Lacombe, Hanns Lochmüller, Estrella López‐Martín, Alfons Macaya, Anna Marcé‐Grau, Aleš Maver, Mary Reilly, Francesco Muntoni, Francesco Musacchia, Gisèle Bonne, Vincenzo Nigro, Catarina Olimpio, Carla Oliveíra, Jaroslava Paulasová Schwabová, Martje G. Pauly, Borut Peterlin, Sophia Peters, Rolph Pfundt, Giulio Piluso, Davide Piscia, Manuel Posada, Selina Reich, Alessandra Renieri, Lukáš Ryba, Karolis Šablauskas, Marco Savarese, Lüdger Schöls, Leon Schütz, Verena Steinke‐Lange, Giovanni Stévanin, Volker Straub, Marc Sturm, Morris A. Swertz, Marco Tartaglia, Iris te Paske, Rachel Thompson, Annalaura Torella, Christina Trainor, Bjarne Udd, Liedewei Van de Vondel, Bart van de Warrenburg, Jeroen van Reeuwijk, Jana Vandrovcová, Antonio Vitobello, Janet R. Vos, Emílie Vyhnálková, Robin Wijngaard, Carlo Wilke, Doreen William, Jishu Xu, Burcu Yaldız, Luca Zalatnai, Birte Zurek, Richarda M. de Voer, Iris te Paske, Nienke van Os, Jean‐Madeleine de Sainte Agathe, Liedewei Van de Vondel, Bart van de Warrenburg, Lisenka E.L.M. Vissers, Anthony J. Brookes, Teresinha Evangelista

    Được phát hành 2025
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    Artigo
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