Browsing Universitätsbibliographie by Author "Hengel, Holger"

DSpace Repository

Browsing Universitätsbibliographie by Author "Hengel, Holger"

Sort by: Order: Results:

  • GPT2 mutations cause developmental encephalopathy with microcephaly and features of complicated hereditary spastic paraplegia
    Hengel, H.; Keimer, R.; Deigendesch, W.; Riess, A.; Marzouqa, H.; Zaidan, J.; Bauer, P.; Schoels, L. (2018)
  • Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy
    Park, Joohyun; Tucci, Arianna; Cipriani, Valentina; Demidov, German; Rocca, Clarissa; Senderek, Jan; Butryn, Michaela; Velic, Ana; Lam, Tanya; Galanaki, Evangelia; Cali, Elisa; Vestito, Letizia; Maroofian, Reza; Deininger, Natalie; Rautenberg, Maren; Admard, Jakob; Hahn, Gesa-Astrid; Bartels, Claudius; van Os, Nienke J. H.; Horvath, Rita; Chinnery, Patrick F.; Tiet, May Yung; Hewamadduma, Channa; Hadjivassiliou, Marios; Tofaris, George K.; Wood, Nicholas W.; Hayer, Stefanie N.; Bender, Friedemann; Menden, Benita; Cordts, Isabell; Klein, Katrin; Huu Phuc Nguyen; Krauss, Joachim K.; Blahak, Christian; Strom, Tim M.; Sturm, Marc; van de Warrenburg, Bart; Lerche, Holger; Macek, Boris; Synofzik, Matthis; Ossowski, Stephan; Timmann, Dagmar; Wolf, Marc E.; Smedley, Damian; Riess, Olaf; Schoels, Ludger; Houlden, Henry; Haack, Tobias B.; Hengel, Holger (2022)
  • Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia
    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; Altmueller, 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, Ruediger; Sturm, Marc; Roeske, Sandra; Jung, Johanna; Bauer, Peter; Lohmann, Ebba; Herms, Stefan; Heilmann-Heimbach, Stefanie; Nicholson, Garth; Mahanjah, Muhammad; Sharkia, Rajech; Carloni, Paolo; Bruestle, Oliver; Klopstock, Thomas; Mathews, Katherine D.; Shy, Michael E.; de Jonghe, Peter; Chinnery, Patrick F.; Horvath, Rita; Kohlhase, Juergen; Schmitt, Ina; Wolf, Michael; Greschus, Susanne; Amunts, Katrin; Maier, Wolfgang; Schoels, Ludger; Nuernberg, Peter; Zuchner, Stephan; Klockgether, Thomas; Ramirez, Alfredo; Schuele, Rebecca (2017)
  • Individual Changes in Preclinical Spinocerebellar Ataxia Identified Via Increased Motor Complexity
    Ilg, Winfried; Fleszar, Zofia; Schatton, Cornelia; Hengel, Holger; Harmuth, Florian; Bauer, Peter; Timmann, Dagmar; Giese, Martin; Schoels, Ludger; Synofzik, Matthis (2016)
  • Levels of Neurofilament Light at the Preataxic and Ataxic Stages of Spinocerebellar Ataxia Type
    Wilke, Carlo; Mengel, David; Schols, Ludger; Hengel, Holger; Rakowicz, Maria; Klockgether, Thomas; Durr, Alexandra; Filla, Alessandro; Melegh, Bela; Schule, Rebecca; Reetz, Kathrin; Jacobi, Heike; Synofzik, Matthis (2022)
  • Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort study
    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; Panzeri, Marta; Rakowicz, Maria; Sulek, Anna; Sobanska, Anna; Schmitz-Huebsch, Tanja; Schoels, Ludger; Hengel, Holger; Baliko, Laszlo; Melegh, Bela; Filla, Alessandro; Antenora, Antonella; Infante, Jon; Berciano, Jose; van de Warrenburg, Bart P.; Timmann, Dagmar; Szymanski, Sandra; Boesch, Sylvia; Kang, Jun-Suk; Pandolfo, Massimo; Schulz, Joerg B.; Molho, Sonia; Diallo, Alhassane; Klockgether, Thomas (2015)
  • Long-term evolution of patient-reported outcome measures in spinocerebellar ataxias
    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-Huebsch, Tanja; Schoels, Ludger; Hengel, Holger; Baliko, Laszlo; Melegh, Bela; Filla, Alessandro; Antenora, Antonella; Infante, Jon; Berciano, Jose; Van De Warrenburg, Bart P.; Timmann, Dagmar; Szymanski, Sandra; Boesch, Sylvia; Nachbauer, Wolfgang; Kang, Jun-Suk; Pandolfo, Massimo; Schulz, Joerg B.; Melac, Audrey Tanguy; Diallo, Alhassane; Klockgether, Thomas (2018)
  • Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy
    Hengel, Holger; Bosso-Lefevre, Celia; Grady, George; Szenker-Ravi, Emmanuelle; Li, Hankun; Pierce, Sarah; Lebigot, Elise; 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; Mahida, Sonal; Naidu, Sakkubai; Thomas, Terrence G.; Lim, Jiin Ying; Tan, Ee Shien; Haye, Damien; Willemsen, Michel A. A. P.; Oegema, Renske; Mitchell, Wendy G.; Pierson, Tyler Mark; Andrews, Marisa V.; Willing, Marcia C.; Rodan, Lance H.; Barakat, Tahsin Stefan; van Slegtenhorst, Marjon; Gavrilova, Ralitza H.; Martinelli, Diego; Gilboa, Tal; Tamim, Abdullah M.; Hashem, Mais O.; AlSayed, Moeenaldeen D.; Abdulrahim, Maha M.; Al-Owain, Mohammed; Awaji, Ali; Mahmoud, Adel A. H.; Faqeih, Eissa A.; Al Asmari, Ali; Algain, Sulwan M.; Jad, Lamyaa A.; Aldhalaan, Hesham M.; Helbig, Ingo; Koolen, David A.; Riess, Angelika; Kraegeloh-Mann, Ingeborg; Bauer, Peter; Gulsuner, Suleyman; Stamberger, Hannah; Ng, Alvin Yu Jin; Tang, Sha; Tohari, Sumanty; Keren, Boris; Schultz-Rogers, Laura E.; Klee, Eric W.; Barresi, Sabina; Tartaglia, Marco; Mor-Shaked, Hagar; Maddirevula, Sateesh; Begtrup, Amber; Telegrafi, Aida; Pfundt, Rolph; Schuele, Rebecca; Ciruna, Brian; Bonnard, Carine; Pouladi, Mahmoud A.; Stewart, James C.; Claridge-Chang, Adam; Lefeber, Dirk J.; Alkuraya, Fowzan S.; Mathuru, Ajay S.; Venkatesh, Byrappa; Barycki, Joseph J.; Simpson, Melanie A.; Jamuar, Saumya S.; Schoels, Ludger; Reversade, Bruno (2020)
  • Metabolic profiling in serum, cerebrospinal fluid, and brain of patients with cerebrotendinous xanthomatosis
    Hoeflinger, 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; Luetjohann, Dieter; Griffiths, William J.; Schols, Ludger (2021)
  • Multifocal, hypoechogenic nerve thickening in Cerebrotendinous Xanthomatosis
    Roeben, Benjamin; Just, Jennifer; Hengel, Holger; Bender, Friedemann; Poeschl, Peter; Synofzik, Matthis; Schoels, Ludger; Grimm, Alexander (2020)
  • Nerve ultrasound characterizes AMN polyneuropathy as inhomogeneous and focal hypertrophic
    Rattay, Tim W.; Just, Jennifer; Roeben, Benjamin; Hengel, Holger; Schuele, Rebecca; Synofzik, Matthis; Soehn, Anne S.; Winter, Natalie; Dammeier, Nele; Schoels, Ludger; Grimm, Alexander (2018)
  • Neurofilament light chain is a cerebrospinal fluid biomarker in hereditary spastic paraplegia
    Kessler, Christoph; Serna-Higuita, Lina M.; Rattay, Tim W.; Maetzler, Walter; Wurster, Isabel; Hayer, Stefanie; Wilke, Carlo; Hengel, Holger; Reichbauer, Jennifer; Armbruster, Marcel; Schoels, Ludger; Martus, Peter; Schuele, Rebecca (2021)
  • Neurofilaments in spinocerebellar ataxia type 3: blood biomarkers at the preataxic and ataxic stage in humans and mice
    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; de Almeida, Luis Pereira; Rakowicz, Maria; Jacobi, Heike; Schule, Rebecca; Kaeser, Stephan A.; Kuhle, Jens; Klockgether, Thomas; Schoels, Ludger; Barro, Christian; Huebener-Schmid, Jeannette; Synofzik, Matthis (2020)
  • Non-motor symptoms are relevant and possibly treatable in hereditary spastic paraplegia type 4 (SPG4)
    Rattay, Tim W.; Boldt, Andreas; Voelker, Maximilian; Wiethoff, Sarah; Hengel, Holger; Schuele, Rebecca; Schoels, Ludger (2020)
  • PolyQ-expanded ataxin-3 protein levels in peripheral blood mononuclear cells correlate with clinical parameters in SCA3: a pilot study
    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; Schoels, Ludger; Riess, Olaf H.; Huebener-Schmid, Jeannette (2021)
  • Predicting clinical phenotypes of metachromatic leukodystrophy based on the arylsulfatase A activity and the ARSA genotype?-Chances and challenges
    Santhanakumaran, Vidiyaah; Groeschel, Samuel; Harzer, Klaus; Kehrer, Christiane; Elguen, Saskia; Beck-Woedl, Stefanie; Hengel, Holger; Schoels, Ludger; Haack, Tobias B.; Kraegeloh-Mann, Ingeborg; Laugwitz, Lucia (2022)
  • Prediction of Survival With Long-Term Disease Progression in Most Common Spinocerebellar Ataxia
    Diallo, Alhassane; Jacobi, Heike; Cook, Arron; Giunti, Paola; Parkinson, Michael H.; Labrum, Robyn; Durr, Alexandra; Brice, Alexis; Charles, Perrine; Marelli, Cecilia; Mariotti, Caterina; Nanetti, Lorenzo; Panzeri, Marta; Castaldo, Anna; Rakowicz, Maria; Rola, Rafal; Sulek, Anna; Schmitz-Huebsch, Tanja; Schoels, Ludger; Hengel, Holger; Baliko, Laszlo; Melegh, Bela; Filla, Alessandro; Antenora, Antonella; Infante, Jon; Berciano, Jose; van de Warrenburg, Bart P.; Timmann, Dagmar; Boesch, Sylvia; Nachbauer, Wolfgang; Pandolfo, Massimo; Schulz, Joerg B.; Bauer, Peter; Jun-Suk, Kang; Klockgether, Thomas; du Montcel, Sophie Tezenas (2019)
  • RORA-neurodevelopmental disorder: A unique triad of developmental disabilities, cerebellar anomalies, and myoclonic seizures
    Talarico, Mariagrazia; de Bellescize, Julitta; De Wachter, Matthias; Le Guillou, Xavier; le Meur, Guylene; Egloff, Matthieu; Isidor, Bertrand; Cogne, Benjamin; Beysen, Diane; Rollier, Paul; Fradin, Melanie; Pasquier, Laurent; Guella, Ilaria; Hickey, Scott E.; Benke, Paul J.; Shillington, Amelle; Kumps, Candy; Vanakker, Olivier; Gerkes, Erica H.; Lakhani, Shenela; Romanova, Irina; Kanivets, Ilya; Brugger, Melanie; Vill, Katharina; Caylor, Raymond C.; Skinner, Cindy; Tinker, Rory J.; Stodberg, Tommy; Numann, Astrid; Haack, Tobias B.; Deininger, Natalie; Hengel, Holger; Jury, Jeanne; Conrad, Solene; Mercier, Sandra; Yoon, Grace; Tsuboyama, Melissa; Barcia, Giulia; Gitiaux, Cyril; Rio, Marlene; Bevot, Andrea; Redon, Sylvia; Uguen, Kevin; Wonneberger, Antje; Schulz, Alexander; Timmann, Dagmar; Karlowicz, Danielle Hays; Chatron, Nicolas; Carnevale, Amanda; Mahida, Sonal; Ounap, Katrin; Kury, Sebastien; Cabet, Sara; Lesca, Gaetan (2025)
  • Safety and Efficacy of Acetyl-DL-Leucine in Certain Types of Cerebellar Ataxia The ALCAT Randomized Clinical Crossover Trial
    Feil, Katharina; Adrion, Christine; Boesch, Sylvia; Doss, Sarah; Giordano, Ilaria; Hengel, Holger; Jacobi, Heike; Klockgether, Thomas; Klopstock, Thomas; Nachbauer, Wolfgang; Schoels, Ludger; Steiner, Katharina Marie; Stendel, Claudia; Timmann, Dagmar; Naumann, Ivonne; Mansmann, Ulrich; Strupp, Michael (2021)
  • SCAPER-Related Autosomal Recessive Retinitis Pigmentosa with Intellectual Disability: Confirming and Extending the Phenotypic Spectrum and Bioinformatics Analyses
    Sharkia, Rajech; Zalan, Abdelnaser; Kessel, Amit; Al-Shareef, Wasif; Zahalka, Hazar; Hengel, Holger; Schoels, Ludger; Azem, Abdussalam; Mahajnah, Muhammad (2024)