Auflistung Universitätsbibliographie nach Autor "Schöls, Ludger"

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Auflistung Universitätsbibliographie nach Autor "Schöls, Ludger"

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  • Application of Quantitative Motor Assessments in Friedreich Ataxia and Evaluation of Their Relation to Clinical Measures
    Hohenfeld, Christian; Dogan, Imis; Schubert, Robin; Didszun, Claire; Schoels, Ludger; Synofzik, Matthis; Giordano, Ilaria A.; Klockgether, Thomas; Schulz, Joerg B.; Reilmann, Ralf; Reetz, Kathrin (2019)
  • Association of Age at Onset and First Symptoms With Disease Progression in Patients With Metachromatic Leukodystrophy
    Kehrer, Christiane; Elgun, Saskia; Raabe, Christa; Bohringer, Judith; Beck-Wodl, Stefanie; Bevot, Andrea; Kaiser, Nadja; Schols, Ludger; Krageloh-Mann, Ingeborg; Groeschel, Samuel (2021)
  • Ataxien und hereditäre spastische Spinalparalysen
    Schuele, R.; Schoels, L. (2017)
  • ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy
    Caporali, Leonardo; Magri, Stefania; Legati, Andrea; Del Dotto, Valentina; Tagliavini, Francesca; Balistreri, Francesca; Nasca, Alessia; La Morgia, Chiara; Carbonelli, Michele; Valentino, Maria L.; Lamantea, Eleonora; Baratta, Silvia; Schoels, Ludger; Schuele, Rebecca; Barboni, Piero; Cascavilla, Maria L.; Maresca, Alessandra; Capristo, Mariantonietta; Ardissone, Anna; Pareyson, Davide; Cammarata, Gabriella; Melzi, Lisa; Zeviani, Massimo; Peverelli, Lorenzo; Lamperti, Costanza; Marzoli, Stefania B.; Fang, Mingyan; Synofzik, Matthis; Ghezzi, Daniele; Carelli, Valerio; Taroni, Franco (2020)
  • Autosomal dominant cerebellar ataxia with slow ocular saccades, neuropathy and orthostatism: A novel entity?
    Wictorin, Klas; Bradvik, Bjorn; Nilsson, Karin; Soller, Maria; van Westen, Danielle; Bynke, Gunnel; Bauer, Peter; Schoels, Ludger; Puschmann, Andreas (2014)
  • Autosomal Recessive Cerebellar Ataxias: Paving the Way toward Targeted Molecular Therapies
    Synofzik, Matthis; Puccio, Helene; Mochel, Fanny; Schoels, Ludger (2019)
  • Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum
    Synofzik, Matthis; Soehn, Anne S.; Gburek-Augustat, Janina; Schicks, Julia; Karle, Kathrin N.; Schuele, Rebecca; Haack, Tobias B.; Schoening, Martin; Biskup, Saskia; Rudnik-Schoeneborn, Sabine; Senderek, Jan; Hoffmann, Karl-Titus; MacLeod, Patrick; Schwarz, Johannes; Bender, Benjamin; Krueger, Stefan; Kreuz, Friedmar; Bauer, Peter; Schoels, Ludger (2013)
  • Axonal transport deficit in a KIF5A (-/-) mouse model
    Karle, Kathrin N.; Moeckel, Diana; Reid, Evan; Schoels, Ludger (2012)
  • Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder
    Hengel, Holger; Hannan, Shabab B.; Dyack, Sarah; MacKay, Sara B.; Schatz, Ulrich; Fleger, Martin; Kurringer, Andreas; Balousha, Ghassan; Ghanim, Zaid; Alkuraya, Fowzan S.; Alzaidan, Hamad; Alsaif, Hessa S.; Mitani, Tadahiro; Bozdogan, Sevcan; Pehlivan, Davut; Lupski, James R.; Gleeson, Joseph J.; Dehghani, Mohammadreza; Mehrjardi, Mohammad Y., V; Sherr, Elliott H.; Parks, Kendall C.; Argilli, Emanuela; Begtrup, Amber; Galehdari, Hamid; Balousha, Osama; Shariati, Gholamreza; Mazaheri, Neda; Malamiri, Reza A.; Pagnamenta, Alistair T.; Kingston, Helen; Banka, Siddharth; Jackson, Adam; Osmond, Mathew; Riess, Angelika; Haack, Tobias B.; Naegele, Thomas; Schuster, Stefanie; Hauser, Stefan; Admard, Jakob; Casadei, Nicolas; Velic, Ana; Macek, Boris; Ossowski, Stephan; Houlden, Henry; Maroofian, Reza; Schoels, Ludger (2021)
  • Bi-allelic truncating mutations in VWA1 cause neuromyopathy
    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.; Weis, Joachim; Schoels, Ludger; Schara, Ulrike; Zierz, Stephan; Riess, Olaf; Meitinger, Thomas; Haack, Tobias B. (2021)
  • Biallelic loss-of-function variations in PRDX3 cause cerebellar ataxia
    Rebelo, Adriana P.; Eidhof, Ilse; Cintra, Vivian P.; Guillot-Noel, Lena; Pereira, Claudia, V; Timmann, Dagmar; Traschutz, Andreas; Schols, Ludger; Coarelli, Giulia; Durr, Alexandra; Anheim, Mathieu; Tranchant, Christine; van de Warrenburg, Bart; Guissart, Claire; Koenig, Michel; Howell, Jack; Moraes, Carlos T.; Schenck, Annette; Stevanin, Giovanni; Zuechner, Stephan; Synofzik, Matthis (2021)
  • Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia
    Wiessner, Manuela; Maroofian, Reza; Ni, Meng-Yuan; Pedroni, Andrea; Muller, Juliane S.; Stucka, Rolf; Beetz, Christian; Efthymiou, Stephanie; Santorelli, Filippo M.; Alfares, Ahmed A.; Zhu, Changlian; Meszarosova, Anna Uhrova; Alehabib, Elham; Bakhtiari, Somayeh; Janecke, Andreas R.; Otero, Maria Gabriela; Chen, Jin Yun Helen; Peterson, James T.; Strom, Tim M.; De Jonghe, Peter; Deconinck, Tine; De Ridder, Willem; De Winter, Jonathan; Pasquariello, Rossella; Ricca, Ivana; Alfadhel, Majid; van de Warrenburg, Bart P.; Portier, Ruben; Bergmann, Carsten; Firouzabadi, Saghar Ghasemi; Jin, Sheng Chih; Bilguvar, Kaya; Hamed, Sherifa; Abdelhameed, Mohammed; Haridy, Nourelhoda A.; Maqbool, Shazia; Rahman, Fatima; Anwar, Najwa; Carmichael, Jenny; Pagnamenta, Alistair; Wood, Nick W.; Mau-Them, Frederic Tran; Haack, Tobias; Di Rocco, Maja; Ceccherini, Isabella; Iacomino, Michele; Zara, Federico; Salpietro, Vincenzo; Scala, Marcello; Rusmini, Marta; Xu, Yiran; Wang, Yinghong; Suzuki, Yasuhiro; Koh, Kishin; Nan, Haitian; Ishiura, Hiroyuki; Tsuji, Shoji; Lambert, Laetitia; Schmitt, Emmanuelle; Lacaze, Elodie; Kuepper, Hanna; Dredge, David; Skraban, Cara; Goldstein, Amy; Willis, Mary J. H.; Grand, Katheryn; Graham, John M., Jr.; Lewis, Richard A.; Millan, Francisca; Duman, Ozgur; Dundar, Nihal; Uyanik, Gokhan; Schols, Ludger; Nuernberg, Peter; Nuernberg, Gudrun; Bordes, Andrea Catala; Seeman, Pavel; Kuchar, Martin; Darvish, Hossein; Rebelo, Adriana; Boucanova, Filipa; Medard, Jean-Jacques; Chrast, Roman; Auer-Grumbach, Michaela; Alkuraya, Fowzan S.; Shamseldin, Hanan; Al Tala, Saeed; Varaghchi, Jamileh Rezazadeh; Najafi, Maryam; Deschner, Selina; Glaeser, Dieter; Huettel, Wolfgang; Kruer, Michael C.; Kamsteeg, Erik-Jan; Takiyama, Yoshihisa; Zuchner, Stephan; Baets, Jonathan; Synofzik, Matthis; Schuele, Rebecca; Horvath, Rita; Houlden, Henry (2021)
  • Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy
    Feichtinger, Rene G.; Mucha, Bettina E.; Hengel, Holger; Orfi, Zakaria; Makowski, Christine; Dort, Junio; D'Anjou, Guy; Thi Tuyet Mai Nguyen; Buchert, Rebecca; Juenger, Hendrik; Freisinger, Peter; Baumeister, Sarah; Schoser, Benedikt; Ahting, Uwe; Keimer, Reinhard; Nguyen, Cam-Tu Emilie; Fabre, Paul; Gauthier, Julie; Miguet, Marguerite; Lopes, Fatima; AlHakeem, Afnan; AlHashem, Amal; Tabarki, Brahim; Kandaswamy, Krishna Kumar; Bauer, Peter; Steinbacher, Peter; Prokisch, Holger; Sturm, Marc; Strom, Tim M.; Ellezam, Benjamin; Mayr, Johannes A.; Schoels, Ludger; Michaud, Jacques L.; Campeau, Philippe M.; Haack, Tobias B.; Dumont, Nicolas A. (2019)
  • Biological and clinical characteristics of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 in the longitudinal RISCA study: analysis of baseline data
    Jacobi, Heike; Reetz, Kathrin; du Montcel, Sophie Tezenas; Bauer, Peter; Mariotti, Caterina; Nanetti, Lorenzo; Rakowicz, Maria; Sulek, Anna; Durr, Alexandra; Charles, Perrine; Filla, Alessandro; Antenora, Antonella; Schoels, Ludger; Schicks, Julia; Infante, Jon; Kang, Jun-Suk; Timmann, Dagmar; Di Fabio, Roberto; Masciullo, Marcella; Baliko, Laszlo; Melegh, Bela; Boesch, Sylvia; Buerk, Katrin; Peltz, Annkathrin; Schulz, Joerg B.; Dufaure-Gare, Isabelle; Klockgether, Thomas (2013)
  • Biological and clinical characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline data
    Reetz, Kathrin; Dogan, Imis; Costa, Ana S.; Dafotakis, Manuel; Fedosov, Kathrin; Giunti, Paola; Parkinson, Michael H.; Sweeney, Mary G.; Mariotti, Caterina; Panzeri, Marta; Nanetti, Lorenzo; Arpa, Javier; Sanz-Gallego, Irene; Durr, Alexandra; Charles, Perrine; Boesch, Sylvia; Nachbauer, Wolfgang; Klopstock, Thomas; Karin, Ivan; Depondt, Chantal; Hagen, Jennifer Muller Vom; Schols, Ludger; Giordano, Ilaria A.; Klockgether, Thomas; Burk, Katrin; Pandolfo, Massimo; Schulz, Joeg B. (2015)
  • Brain MRI features and scoring of leukodystrophy in adult-onset Krabbe disease
    Cousyn, Louis; Law-Ye, Bruno; Pyatigorskaya, Nadya; Debs, Rabab; Froissart, Roseline; Piraud, Monique; Federico, Antonio; Salvatore, Simona; Cerase, Alfonso; Macario, Maria C.; Duraes, Joao; Kim, Seung H.; Adachi, Hiroshi; Audoin, Bertrand; Ayrignac, Xavier; Da, Yuwei; Henderson, Robert; La Piana, Roberta; Laule, Cornelia; Nakamagoe, Kiyotaka; Raininko, Raili; Schols, Ludger; Sirrs, Sandra M.; Viader, Fausto; Jastrzebski, Karol; Leclercq, Delphine; Nadjar, Yann (2019)
  • Cerebellar pathology in Friedreich's ataxia: Atrophied dentate nuclei with normal iron content
    Solbach, K.; Kraff, O.; Minnerop, M.; Beck, A.; Schoels, L.; Gizewski, E. R.; Ladd, M. E.; Timmann, D. (2014)
  • Characteristics of serum neurofilament light chain as a biomarker in hereditary spastic paraplegia type 4
    Kessler, Christoph; Serna-Higuita, Lina Maria; Wilke, Carlo; Rattay, Tim W.; Hengel, Holger; Reichbauer, Jennifer; Stransky, Elke; Leyva-Gutierrez, Alejandra; Mengel, David; Synofzik, Matthis; Schoels, Ludger; Martus, Peter; Schuele, Rebecca (2022)
  • Characterization of Lifestyle in Spinocerebellar Ataxia Type 3 and Association with Disease Severity
    Hengel, Holger; Martus, Peter; Faber, Jennifer; Garcia-Moreno, Hector; Solanky, Nita; Giunti, Paola; Klockgether, Thomas; Reetz, Kathrin; van de Warrenburg, Bart P.; de Almeida, Luis Pereira; Santana, Magda M.; Januario, Cristina; Silva, Patrick; Thieme, Andreas; Infante, Jon; de Vries, Jeroen; Lima, Manuela; Ferreira, Ana F.; Bushara, Khalaf; Jacobi, Heike; Onyike, Chiadi; Schmahmann, Jeremy D.; Huebener-Schmid, Jeannette; Synofzik, Matthis; Schoels, Ludger (2022)
  • Characterizing POLG Ataxia: Clinics, Electrophysiology and Imaging
    Synofzik, Matthis; Srulijes, Karin; Godau, Jana; Berg, Daniela; Schoels, Ludger (2012)