Works by Hengel, Holger

Results: 40
    1

    Heterozygous RAB3A variants cause cerebellar ataxia by a partial loss-of-function mechanism.

    Published in:
    Brain: A Journal of Neurology, 2025, v. 148, n. 8, p. 2812, doi. 10.1093/brain/awaf111
    By:
    • Hengel, Holger;
    • Hannan, Shabab B;
    • Reich, Selina;
    • Beijer, Danique;
    • Roller, Johanna;
    • Gilsbach, Bernd K;
    • Gloeckner, Christian Johannes;
    • Greene, Daniel;
    • Timmann, Dagmar;
    • Depienne, Christel;
    • Mumford, Andrew;
    • O'Driscoll, Mary;
    • Nemeth, Andrea H;
    • Lundberg, Julie;
    • Rodan, Lance H;
    • Bruel, Ange-Line;
    • Delanne, Julian;
    • Deconinck, Tine;
    • Baets, Jonathan;
    • Gan-Or, Ziv
    Publication type:
    Article
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    Body Mass Index Decline Is Related to Spinocerebellar Ataxia Disease Progression.

    Published in:
    Movement Disorders Clinical Practice, 2017, v. 4, n. 5, p. 689, doi. 10.1002/mdc3.12522
    By:
    • Diallo, Alhassane;
    • Jacobi, Heike;
    • Schmitz‐Hübsch, Tanja;
    • Cook, Arron;
    • Labrum, Robyn;
    • Durr, Alexandra;
    • Brice, Alexis;
    • Charles, Perrine;
    • Marelli, Cecilia;
    • Mariotti, Caterina;
    • Nanetti, Lorenzo;
    • Panzeri, Marta;
    • Rakowicz, Maria;
    • Sobanska, Anna;
    • Sulek, Anna;
    • Schöls, Ludger;
    • Hengel, Holger;
    • Melegh, Bela;
    • Filla, Alessandro;
    • Antenora, Antonella
    Publication type:
    Article
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    Safety and Efficacy of Acetyl-DL-Leucine in Certain Types of Cerebellar Ataxia The ALCAT Randomized Clinical Crossover Trial.

    Published in:
    JAMA Network Open, 2021, v. 4, n. 12, p. 1, doi. 10.1001/jamanetworkopen.2021.35841
    By:
    • 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
    Publication type:
    Article
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    Cerebrospinal fluid findings in patients with psychotic symptoms—a retrospective analysis.

    Published in:
    Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-86170-w
    By:
    • 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
    Publication type:
    Article
    10

    Defining diagnostic cutoffs in neurological patients for serum very long chain fatty acids (VLCFA) in genetically confirmed X-Adrenoleukodystrophy.

    Published in:
    Scientific Reports, 2020, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41598-020-71248-8
    By:
    • 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
    Publication type:
    Article
    11

    Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.

    Published in:
    Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-020-14360-7
    By:
    • Hengel, Holger;
    • Bosso-Lefèvre, Célia;
    • Grady, George;
    • Szenker-Ravi, Emmanuelle;
    • Li, Hankun;
    • Pierce, Sarah;
    • Lebigot, Élise;
    • Tan, Thong-Teck;
    • Eio, Michelle Y.;
    • Narayanan, Gunaseelan;
    • Utami, Kagistia Hana;
    • Yau, Monica;
    • Handal, Nader;
    • Deigendesch, Werner;
    • Keimer, Reinhard;
    • Marzouqa, Hiyam M.;
    • Gunay-Aygun, Meral;
    • Muriello, Michael J.;
    • Verhelst, Helene;
    • Weckhuysen, Sarah
    Publication type:
    Article
    12

    Novel variants in CSF1R associated with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP).

    Published in:
    Journal of Neurology, 2024, v. 271, n. 9, p. 6025, doi. 10.1007/s00415-024-12557-0
    By:
    • Schmitz, Anne S.;
    • Raju, Janani;
    • Köhler, Wolfgang;
    • Klebe, Stephan;
    • Cheheb, Khaled;
    • Reschke, Franziska;
    • Biskup, Saskia;
    • Haack, Tobias B.;
    • Roeben, Benjamin;
    • Kellner, Melanie;
    • Rahner, Nils;
    • Bloch, Thomas;
    • Lemke, Johannes;
    • Bender, Benjamin;
    • Schöls, Ludger;
    • Hengel, Holger;
    • Hayer, Stefanie N.
    Publication type:
    Article
    13

    Correction to: The frequency of non‑motor symptoms in SCA3 and their association with disease severity and lifestyle factors.

    Published in:
    2024
    By:
    • Hengel, Holger;
    • Martus, Peter;
    • Faber, Jennifer;
    • Giunti, Paola;
    • Garcia-Moreno, Hector;
    • Solanky, Nita;
    • Klockgether, Thomas;
    • Reetz, Kathrin;
    • van de Warrenburg, Bart P.;
    • Santana, Magda M.;
    • Silva, Patrick;
    • Cunha, Inês;
    • de Almeida, Luís Pereira;
    • Timmann, Dagmar;
    • Infante, Jon;
    • de Vries, Jeroen;
    • Lima, Manuela;
    • Pires, Paula;
    • Bushara, Khalaf;
    • Jacobi, Heike
    Publication type:
    Correction Notice
    14

    The frequency of non-motor symptoms in SCA3 and their association with disease severity and lifestyle factors.

    Published in:
    Journal of Neurology, 2023, v. 270, n. 2, p. 944, doi. 10.1007/s00415-022-11441-z
    By:
    • Hengel, Holger;
    • Martus, Peter;
    • Faber, Jennifer;
    • Giunit, Paola;
    • Garcia-Moreno, Hector;
    • Solanky, Nita;
    • Klockgether, Thomas;
    • Reetz, Kathrin;
    • van de Warrenburg, Bart P.;
    • Santana, Magda M.;
    • Silva, Patrick;
    • Cunha, Inês;
    • de Almeida, Luís Pereira;
    • Timmann, Dagmar;
    • Infante, Jon;
    • de Vries, Jeroen;
    • Lima, Manuela;
    • Pires, Paula;
    • Bushara, Khalaf;
    • Jacobi, Heike
    Publication type:
    Article
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    PolyQ-expanded ataxin-3 protein levels in peripheral blood mononuclear cells correlate with clinical parameters in SCA3: a pilot study.

    Published in:
    Journal of Neurology, 2021, v. 268, n. 4, p. 1304, doi. 10.1007/s00415-020-10274-y
    By:
    • 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
    Publication type:
    Article
    17
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    Long-term evolution of patient-reported outcome measures in spinocerebellar ataxias.

    Published in:
    Journal of Neurology, 2018, v. 265, n. 9, p. 2040, doi. 10.1007/s00415-018-8954-0
    By:
    • Jacobi, Heike;
    • du Montcel, Sophie Tezenas;
    • Bauer, Peter;
    • Giunti, Paola;
    • Cook, Arron;
    • Labrum, Robyn;
    • Parkinson, Michael H.;
    • Durr, Alexandra;
    • Brice, Alexis;
    • Charles, Perrine;
    • Marelli, Cecilia;
    • Mariotti, Caterina;
    • Nanetti, Lorenzo;
    • Sarro, Lidia;
    • Rakowicz, Maria;
    • Sulek, Anna;
    • Sobanska, Anna;
    • Schmitz-Hübsch, Tanja;
    • Schöls, Ludger;
    • Hengel, Holger
    Publication type:
    Article
    19

    Clinical, radiological, and genetic characteristics of 16 patients with ACO2 gene defects: Delineation of an emerging neurometabolic syndrome.

    Published in:
    Journal of Inherited Metabolic Disease, 2019, v. 42, n. 2, p. 264, doi. 10.1002/jimd.12022
    By:
    • Sharkia, Rajech;
    • Wierenga, Klaas J.;
    • Kessel, Amit;
    • Azem, Abdussalam;
    • Bertini, Enrico;
    • Carrozzo, Rosalba;
    • Torraco, Alessandra;
    • Goffrini, Paola;
    • Ceccatelli Berti, Camilla;
    • McCormick, M. Eileen;
    • Plecko, Barbara;
    • Klein, Andrea;
    • Abela, Lucia;
    • Hengel, Holger;
    • Schöls, Ludger;
    • Shalev, Stavit;
    • Khayat, Morad;
    • Mahajnah, Muhammad;
    • Spiegel, Ronen
    Publication type:
    Article
    20

    Effects of acetyl-DL-leucine on cerebellar ataxia (ALCAT trial): study protocol for a multicenter, multinational, randomized, double-blind, placebo-controlled, crossover phase III trial.

    Published in:
    2017
    By:
    • 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
    Publication type:
    journal article
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    Characterization of Lifestyle in Spinocerebellar Ataxia Type 3 and Association with Disease Severity.

    Published in:
    Movement Disorders, 2022, v. 37, n. 2, p. 405, doi. 10.1002/mds.28844
    By:
    • Hengel, Holger;
    • Martus, Peter;
    • Faber, Jennifer;
    • Garcia‐Moreno, Hector;
    • Solanky, Nita;
    • Giunti, Paola;
    • Klockgether, Thomas;
    • Reetz, Kathrin;
    • van de Warrenburg, Bart P.;
    • Pereira de Almeida, Luís;
    • Santana, Magda M.;
    • Januário, Cristina;
    • Silva, Patrick;
    • Thieme, Andreas;
    • Infante, Jon;
    • de Vries, Jeroen;
    • Lima, Manuela;
    • Ferreira, Ana F.;
    • Bushara, Khalaf;
    • Jacobi, Heike
    Publication type:
    Article
    30

    Polyglutamine‐Expanded Ataxin‐3: A Target Engagement Marker for Spinocerebellar Ataxia Type 3 in Peripheral Blood.

    Published in:
    Movement Disorders, 2021, v. 36, n. 11, p. 2675, doi. 10.1002/mds.28749
    By:
    • Hübener‐Schmid, Jeannette;
    • Kuhlbrodt, Kirsten;
    • Peladan, Julien;
    • Faber, Jennifer;
    • Santana, Magda M.;
    • Hengel, Holger;
    • Jacobi, Heike;
    • Reetz, Kathrin;
    • Garcia‐Moreno, Hector;
    • Raposo, Mafalda;
    • van Gaalen, Judith;
    • Infante, Jon;
    • Steiner, Katharina M.;
    • de Vries, Jeroen;
    • Verbeek, Marcel M.;
    • Giunti, Paola;
    • Pereira de Almeida, Luis;
    • Lima, Manuela;
    • van de Warrenburg, Bart;
    • Schöls, Ludger
    Publication type:
    Article
    31

    Regional Brain and Spinal Cord Volume Loss in Spinocerebellar Ataxia Type 3.

    Published in:
    Movement Disorders, 2021, v. 36, n. 10, p. 2273, doi. 10.1002/mds.28610
    By:
    • Faber, Jennifer;
    • Schaprian, Tamara;
    • Berkan, Koyak;
    • Reetz, Kathrin;
    • França, Marcondes Cavalcante;
    • de Rezende, Thiago Junqueira Ribeiro;
    • Hong, Jiang;
    • Liao, Weihua;
    • van de Warrenburg, Bart;
    • van Gaalen, Judith;
    • Durr, Alexandra;
    • Mochel, Fanny;
    • Giunti, Paola;
    • Garcia‐Moreno, Hector;
    • Schoels, Ludger;
    • Hengel, Holger;
    • Synofzik, Matthis;
    • Bender, Benjamin;
    • Oz, Gulin;
    • Joers, James
    Publication type:
    Article
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    Neurofilaments in spinocerebellar ataxia type 3: blood biomarkers at the preataxic and ataxic stage in humans and mice.

    Published in:
    EMBO Molecular Medicine, 2020, v. 12, n. 7, p. 1, doi. 10.15252/emmm.201911803
    By:
    • Wilke, Carlo;
    • Haas, Eva;
    • Reetz, Kathrin;
    • Faber, Jennifer;
    • Garcia‐Moreno, Hector;
    • Santana, Magda M;
    • Warrenburg, Bart;
    • Hengel, Holger;
    • Lima, Manuela;
    • Filla, Alessandro;
    • Durr, Alexandra;
    • Melegh, Bela;
    • Masciullo, Marcella;
    • Infante, Jon;
    • Giunti, Paola;
    • Neumann, Manuela;
    • Vries, Jeroen;
    • Pereira de Almeida, Luis;
    • Rakowicz, Maria;
    • Jacobi, Heike
    Publication type:
    Article
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    prodromal phase of hereditary spastic paraplegia type 4: the preSPG4 cohort study.

    Published in:
    Brain: A Journal of Neurology, 2023, v. 146, n. 3, p. 1093, doi. 10.1093/brain/awac155
    By:
    • 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
    Publication type:
    Article
    38

    Bi-allelic truncating mutations in VWA1 cause neuromyopathy.

    Published in:
    2021
    By:
    • 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
    Publication type:
    journal article
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