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Dr. med. Peter Bauer

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Die folgenden Publikationen sind in der Online-Universitätsbibliographie der Universität Duisburg-Essen verzeichnet. Weitere Informationen finden Sie gegebenenfalls auch auf den persönlichen Webseiten der Person.

    Artikel in Zeitschriften

  • Strunk, Daniel; Bauer, Peter; Keyvani, Kathy; Diehl, Rolf; Veltkamp, Roland; Berlit, Peter; Meuth, Sven G.; Timmermann, Lars; Schwitalla, Jan Claudius; Krämer, Markus
    Moyamoya disease in Southeast Asians : Genetic and autopsy data, new cases, systematic review, and meta-analysis of all patients from the literature
    In: Journal of Neurology, Jg. 271, 2024, Nr. 6, S. 3328 – 3339
    DOI (Open Access)
  • Kornak, Uwe; Saha, Namrata; Keren, Boris; Neumann, Alexander; Taylor Tavares, Ana Lisa; Piard, Juliette; Kopp, Johannes; Rodrigues Alves, João Guilherme; Rodríguez de los Santos, Miguel; El Choubassi, Naji; Ehmke, Nadja; Jäger, Marten; Spielmann, Malte; Pantel, Jean Tori; Lejeune, Elodie; Fauler, Beatrix; Mielke, Thorsten; Hecht, Jochen; Meierhofer, David; Strom, Tim M.; Laugel, Vincent; Brice, Alexis; Mundlos, Stefan; Bertoli-Avella, Aida; Bauer, Peter; Heyd, Florian; Boute, Odile; Dupont, Juliette; Depienne, Christel; Van Maldergem, Lionel; Fischer-Zirnsak, Björn
    Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid features
    In: Genetics in Medicine, Jg. 24, 2022, Nr. 9, S. 1927 – 1940
    DOI (Open Access)
  • Roux, Thomas; Barbier, Mathieu; Papin, Mélanie; Davoine, Claire-Sophie; Sayah, Sabrina; Coarelli, Giulia; Charles, Perrine; Marelli, Cecilia; Parodi, Livia; Tranchant, Christine; Goizet, Cyril; Klebe, Stephan; Lohmann, Ebba; Van Maldergem, Lionel; van Broeckhoven, Christine; Coutelier, Marie; Tesson, Christelle; Stevanin, Giovanni; Duyckaerts, Charles; Brice, Alexis; Durr, Alexandra; Durr, Alexandra; Stevanin, Giovanni; Brice, Alexis; Darios, Frédéric; Forlani, Sylvie; Site, Pitié-Salpêtrière; Banneau, Guillaume; Cazeneuve, Cécile; Charles, Perrine; Duyckaerts, Charles; Fontaine, Bertrand; Azulay, Jean-Philippe; Boesfplug-Tanguy, Odile; Goizet, Cyril; Hannequin, Didier; Hazan, Jamilé; Burgo, Andrea; Verny, Christophe; Koenig, Michel; Labauge, Pierre; Marelli, Cecilia; N’guyen, Karine; Rodriguez, Diana; Belarbi, Soraya; Hamri, Abdelmadjid; Tazir, Meriem; Boesch, Sylvia; Pandolfo, Massimo; Laura, Jardim; Guergueltcheva, Velina; Tournev, Ivalo; Pedraza Linarès, Olga Lucia; Nielsen, Jørgen E.; Svenstrup, Kirsten; Zaki, Maha; Bauer, Peter; Schöls, Lüdger; Schüle, Rebecca; Lossos, Alexander; Bassi, Maria-Teresa; Basso, Manuela; Bertini, Enrico; Brusco, Alfredo; Casali, Carlo; Casari, Giorgio; Criscuolo, Chiara; Filla, Alessandro; Orsi, Laura; Santorelli, Filippo M.; Valente, Enza Maria; Vavla, Marinela; Vazza, Giovanni; Megarbane, André; Benomar, Ali; Kremer, Berry; Van Roon-Mom, Willeke; Roxburgh, Richard; Erichsen, Anne Kjersti; Tallaksen, Chantal; Alonso, Isabel; Coutinho, Paula; Loureiro, José Léal; Sequeiros, Jorge; Salih, Mustapha; Kostic, Vladimir S; Rouco Axpe, Idoia; Elsayed, Liena; Paucar, Martin Arce; Roumani, Samir; Bing-Wen, Soong; Reid, Evan; Suran, Nethisinghe; Warner, Thomas; Wood, Nicholas
    Correction: : Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment
    In: Genetics in Medicine, Jg. 23, 2021, Nr. 10, S. 2021
    DOI (Open Access)
  • Laabs, Björn-Hergen; Klein, Christine; Pozojevic, Jelena; Domingo, Aloysius; Brüggemann, Norbert; Grütz, Karen; Rosales, Raymond L.; Jamora, Roland Dominic; Saranza, Gerard; Diesta, Cid Czarina E.; Wittig, Michael; Schaake, Susen; Dulovic-Mahlow, Marija; Quismundo, Jana; Otto, Pia; Acuna, Patrick; Go, Criscely; Sharma, Nutan; Multhaupt-Buell, Trisha; Müller, Ulrich; Hanssen, Henrike; Kilpert, Fabian; Franke, Andre; Rolfs, Arndt; Bauer, Peter; Dobričić, Valerija; Lohmann, Katja; Ozelius, Laurie J.; Kaiser, Frank J.; König, Inke R.; Westenberger, Ana
    Identifying genetic modifiers of age-associated penetrance in X-linked dystonia-parkinsonism
    In: Nature Communications, Jg. 12, 2021, Nr. 1, 3216
    DOI (Open Access)
  • Schmitz-Hübsch, Tanja; Lux, Silke; Bauer, Peter; Brandt, Alexander U.; Schlapakow, Elena; Greschus, Susanne; Scheel, Michael; Gärtner, Hanna; Kirlangic, Mehmet E.; Gras, Vincent; Timmann, Dagmar; Synofzik, Matthis; Giorgetti, Alejandro; Carloni, Paolo; Shah, Jon N.; Schöls, Ludger; Kopp, Ute; Bußenius, Lisa; Oberwahrenbrock, Timm; Zimmermann, Hanna; Pfueller, Caspar; Kadas, Ella-Maria; Rönnefarth, Maria; Grosch, Anne-Sophie; Endres, Matthias; Amunts, Katrin; Paul, Friedemann; Doss, Sarah; Minnerop, Martina
    Spinocerebellar ataxia type 14 : Refining clinicogenetic diagnosis in a rare adult-onset disorder
    In: Annals of Clinical and Translational Neurology, Jg. 8, 2021, Nr. 4, S. 774 – 789
    DOI (Open Access)
  • Roux, Thomas; Barbier, Mathieu; Papin, Mélanie; Davoine, Claire-Sophie; Sayah, Sabrina; Coarelli, Giulia; Charles, Perrine; Marelli, Cecilia; Parodi, Livia; Tranchant, Christine; Goizet, Cyril; Klebe, Stephan; Lohmann, Ebba; Van Maldergen, Lionel; van Broeckhoven, Christine; Coutelier, Marie; Tesson, Christelle; Stevanin, Giovanni; Duyckaerts, Charles; Brice, Alexis; Durr, Alexandra; Darios, Frédéric; Forlani, Sylvie; Site, Pitié-Salpêtrière; Banneau, Guillaume; Cazeneuve, Cécile; Fontaine, Bertrand; Azulay, Jean-Philippe; Boesfplug-Tanguy, Odile; Hannequin, Didier; Hazan, Jamilé; Burgo, Andrea; Verny, Christophe; Koenig, Michel; Labauge, Pierre; N’guyen, Karine; Rodriguez, Diana; Belarbi, Soraya; Hamri, Abdelmadjid; Tazir, Meriem; Boesch, Sylvia; Pandolfo, Massimo; Laura, Jardim; Guergueltcheva, Velina; Tournev, Ivalo; Pedraza Linarès, Olga Lucia; Nielsen, Jørgen E.; Svenstrup, Kirsten; Zaki, Maha; Bauer, Peter; Schöls, Lüdger; Schüle, Rebecca; Lossos, Alexander; Bassi, Maria-Teresa; Basso, Manuela; Bertini, Enrico; Brusco, Alfredo; Casali, Carlo; Casari, Giorgio; Criscuolo, Chiara; Filla, Alessandro; Orsi, Laura; Santorelli, Filippo M.; Valente, Enza Maria; Vavla, Marinela; Vazza, Giovanni; Megarbane, André; Benomar, Ali; Kremer, Berry; Van Roon-Mom, Willeke; Roxburgh, Richard; Erichsen, Anne Kjersti; Tallaksen, Chantal; Alonso, Isabel; Coutinho, Paula; Loureiro, José Léal; Sequeiros, Jorge; Salih, Mustapha; Kostic, Vladimir S.; Rouco Axpe, Idoia; Elsayed, Liena; Paucar, Martin Arce; Roumani, Samir; Bing-Wen, Soong; Reid, Evan; Suran, Nethisinghe; Warner, Thomas; Wood, Nicholas
    Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias : A frequent cause of predominant cognitive impairment
    In: Genetics in Medicine, Jg. 22, 2020, Nr. 11, S. 1851 – 1862
    DOI (Open Access)
  • 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-Hübsch, Tanja; Schöls, Ludger; Hengel, Holger; Baliko, Laszlo; Melegh, Bela; Filla, Alessandro; Antenora, Antonella; Infante, Jon; Berciano, José; van de Warrenburg, Bart P.; Timmann-Braun, Dagmar; Boesch, Sylvia; Nachbauer, Wolfgang; Pandolfo, Massimo; Schulz, Jörg B.; Bauer, Peter; Jun-Suk, Kang; Klockgether, Thomas; Tezenas du Montcel, Sophie
    Prediction of Survival With Long-Term Disease Progression in Most Common Spinocerebellar Ataxia
    In: Movement Disorders, Jg. 34, 2019, Nr. 8, S. 1220 – 1227
    DOI, Online Volltext (Open Access)
  • Bramswig, Nuria C.; Bertoli-Avella, Aida M.; Albrecht, Beate; Al Aqeel, Aida I.; Alhashem, Amal; Al-Sannaa, Nouriya; Bah, Maissa; Bröhl, Katharina; Depienne, Christel; Dorison, Nathalie; Doummar, Diane; Ehmke, Nadja; Elbendary, Hasnaa M.; Gorokhova, Svetlana; Héron, Delphine; Horn, Denise; James, Kiely; Keren, Boris; Küchler, Alma; Ismail, Samira; Issa, Mahmoud Y.; Marey, Isabelle; Mayer, Michèle; McEvoy-Venneri, Jennifer; Megarbane, Andre; Mignot, Cyril; Mohamed, Sarar; Nava, Caroline; Philip, Nicole; Ravix, Cecile; Rolfs, Arndt; Sadek, Abdelrahim Abdrabou; Segebrecht, Lara; Stanley, Valentina; Trautman, Camille; Valence, Stephanie; Villard, Laurent; Wieland, Thomas; Engels, Hartmut; Strom, Tim M.; Zaki, Maha S.; Gleeson, Joseph G.; Lüdecke, Hermann-Josef; Bauer, Peter; Wieczorek, Dagmar
    Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)
    In: Human Genetics, Jg. 137, 2018, Nr. 9, S. 753 – 768
    DOI, Online Volltext (Open Access)
  • Jacobi, Heike; Tezenas du Montcel, Sophie; 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; Baliko, Laszlo; Melegh, Bela; Filla, Alessandro; Antenora, Antonella; Infante, Jon; Berciano, José; van de Warrenburg, Bart P.; Timmann, Dagmar; Szymanski, Sandra; Boesch, Sylvia; Nachbauer, Wolfgang; Kang, Jun-Suk; Pandolfo, Massimo; Schulz, Jörg B.; Melac, Audrey Tanguy; Diallo, Alhassane; Klockgether, Thomas
    Long-term evolution of patient-reported outcome measures in spinocerebellar ataxias
    In: Journal of Neurology, Jg. 265, 2018, Nr. 9, S. 2040 – 2051
    DOI (Open Access)
  • Diallo, Alhassane; Jacobi, Heike; Cook, Arron; Labrum, Robyn; Durr, Alexandra; Brice, Alexis; Charles, Perrine; Marelli, Cecilia; Mariotti, Caterina; Nanetti, Lorenzo; Panzeri, Marta; Rakowicz, Maria; Sobanska, Anna; Sulek, Anna; Schmitz-Hübsch, Tanja; Schöls, Ludger; Hengel, Holger; Melegh, Bela; Filla, Alessandro; Antenora, Antonella; Infante, Jon; Berciano, José; van de Warrenburg, Bart P; Timmann-Braun, Dagmar; Boesch, Sylvia; Pandolfo, Massimo; Schulz, Jörg B; Bauer, Peter; Giunti, Paola; Kang, Jun-Suk; Klockgether, Thomas; Tezenas du Montcel, Sophie
    Survival in patients with spinocerebellar ataxia types 1, 2, 3, and 6 (EUROSCA) : a longitudinal cohort study
    In: The Lancet Neurology, Jg. 17, 2018, Nr. 4, S. 327 – 334
    DOI (Open Access)
  • 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; Infante, Jon; Berciano, José; van de Warrenburg, Bart P; Timmann-Braun, Dagmar; Boesch, Sylvia; Pandolfo, Massimo; Schulz, Jörg B; Bauer, Peter; Giunti, Paola; Baliko, Laszlo; Parkinson, Michael H; Kang, Jun-Suk; Klockgether, Thomas; Tezenas du Montcel, Sophie
    Body Mass Index Decline Is Related to Spinocerebellar Ataxia Disease Progression
    In: Movement Disorders Clinical Practice, Jg. 4, 2017, Nr. 5, S. 689 – 697
    DOI
  • Giordano, Ilaria; Harmuth, Florian; Jacobi, Heike; Paap, Brigitte; Vielhaber, Stefan; MacHts, Judith; Schöls, Ludger; Synofzik, Matthis; Sturm, Marc; Tallaksen, Chantal; Wedding, Iselin M.; Boesch, Sylvia; Eigentler, Andreas; Van De Warrenburg, Bart; Van Gaalen, Judith; Kamm, Christoph; Dudesek, Ales; Kang, Jun-Suk; Timmann-Braun, Dagmar; Silvestri, Gabriella; Masciullo, Marcella; Klopstock, Thomas; Neuhofer, Christiane; Ganos, Christos; Filla, Alessandro; Bauer, Peter; Tezenas Du Montcel, Sophie; Klockgether, Thomas
    Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia
    In: Neurology, Jg. 89, 2017, Nr. 10, S. 1043 – 1049
    DOI, Online Volltext (Open Access)
  • 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; Altmüller, 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, Rudiger; Sturm, Marc; Roeske, Sandra; Jung, Johanna; Bauer, Peter; Lohmann, Ebba; Herms, Stefan; Heilmann-Heimbach, Stefanie; Nicholson, Garth; Mahanjah, Muhammad; Sharkia, Rajech; Carloni, Paolo; Brüstle, Oliver; Klopstock, Thomas; Mathews, Katherine D.; Shy, Michael E.; De Jonghe, Peter; Chinnery, Patrick F.; Horvath, Rita; Kohlhase, Jürgen; Schmitt, Ina; Wolf, Michael; Greschus, Susanne; Amunts, Katrin; Maier, Wolfgang; Schöls, Ludger; Nürnberg, Peter; Zuchner, Stephan; Klockgether, Thomas; Ramirez, Alfredo; Schüle, Rebecca
    Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia
    In: Brain: A Journal of Neurology, Jg. 140, 2017, Nr. 6, S. 1561 – 1578
    DOI
  • Tarnutzer, Alexander A.; Gerth-Kahlert, Christina; Timmann, Dagmar; Chang, D.I.; Harmuth, Florian; Bauer, Péter H.; Straumann, Dominik S.; Synofzik, Matthis
    Boucher–Neuhäuser syndrome : cerebellar degeneration, chorioretinal dystrophy and hypogonadotropic hypogonadism ; two novel cases and a review of 40 cases from the literature
    In: Journal of Neurology, Jg. 262, 2015, Nr. 1, S. 194 – 202
    DOI (Open Access)
  • Tzschach, Andreas; Grasshoff, Ute; Beck-Woedl, Stefanie; Dufke, Claudia; Bauer, Claudia; Kehrer, Martin; Evers, Christina; Moog, Ute; Oehl-Jaschkowitz, Barbara; Di Donato, Nataliya; Maiwald, Robert; Jung, Christine; Küchler, Alma; Schulz, Solveig; Meinecke, Peter; Spranger, Stephanie; Kohlhase, Jürgen; Seidel, Jörg; Reif, Silke; Rieger, Manuela; Riess, Angelika; Sturm, Marc; Bickmann, Julia; Schroeder, Christopher; Dufke, Andreas; Riess, Olaf; Bauer, Peter
    Next-generation sequencing in X-linked intellectual disability
    In: European Journal of Human Genetics, Jg. 23, 2015, Nr. 11, S. 1513 – 1518
    DOI (Open Access)
  • Sixt, Stephan Urs; Costabel, Ulrich; Bonella, F.; Grunert, K.; Alami, R.; Hakenbeck, J.; Bauer, Peter; Dahlmann, B.; Schmid, Kurt Werner; Peters, Jürgen; Wohlschläger, Jeremias
    Alveolar and intraparenchymal proteasome in sarcoidosis
    In: Respiratory Medicine, Jg. 108, 2014, Nr. 10, S. 1534 – 1541
    DOI
  • Tezenas du Montcel, Sophie; Durr, Alexandra; Bauer, Peter; Figueroa, Karla P.; Ichikawa, Yaeko; Brussino, Alessandro; Forlani, Sylvie; Rakowicz, Maria; Schöls, Ludger; Mariotti, Caterina; Warrenburg, Bart P. van de; Orsi, Laura; Giunti, Paola; Filla, Alessandro; Szymanski, Sandra; Klockgether, Thomas; Berciano, José; Pandolfo, Massimo; Boesch, Sylvia; Melegh, Bela; Timmann, Dagmar; Mandich, Paola; Camuzat, Agnès; Goto, Jun; Ashizawa, Tetsuo; Cazeneuve, Cécile; Tsuji, Shoji; Pulst, Stefan-M.; Brusco, Alfredo; Riess, Olaf; Brice, Alexis; Stevanin, Giovanni; Clinical Research Consortium for Spinocerebellar Ataxia (CRC-SCA); the EUROSCA network
    Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes
    In: Brain: A Journal of Neurology, Jg. 137, 2014, Nr. 9, S. 2444 – 2455
    DOI
  • Tezenas du Montcel, Sophie; Durr, Alexandra; Rakowicz, Maria; Nanetti, Lorenzo; Charles, Perrine; Sulek, Anna; Mariotti, Caterina; Rola, Rafal; Schols, Ludger; Bauer, Peter; Dufaure-Garé, Isabelle; Jacobi, Heike; Forlani, Sylvie; Schmitz-Hübsch, Tanja; Filla, Alessandro; Timmann, Dagmar; van de Warrenburg, Bart P.; Marelli, Cecila; Kang, Jun-Suk; Giunti, Paola; Cook, Arron; Baliko, Lazslo; Melegh, Bela; Boesch, Sylvia; Szymanski, Sandra; Berciano, José; Infante, Jon; Buerk, Katrin; Masciullo, Marcella; Di Fabio, Roberto; Depondt, Chantal; Ratka, Susanne; Stevanin, Giovanni; Klockgether, Thomas; Brice, Alexis; Golmard, Jean-Louis
    Prediction of the age at onset in spinocerebellar ataxia type 1, 2, 3 and 6
    In: Journal of Medical Genetics (eJMG), Jg. 51, 2014, Nr. 7, S. 479 – 486
    DOI (Open Access)
  • Jacobi, Heike; Hauser, Till-Karsten; Giunti, Paola; Globas, Christoph; Bauer, Peter; Schmitz-Hübsch, Tanja; Baliko, László; Filla, Alessandro; Mariotti, Caterina; Rakowicz, Maria; Charles, Perine; Ribai, Pascale; Szymanski, Sandra; Infante, Jon; Van De Warrenburg, Bart P. C.; Dürr, Alexandra; Timmann-Braun, Dagmar; Boesch, Sylvia; Fancellu, Roberto; Rola, Rafal; Depondt, Chantal; Schöls, Ludger; Zdzienicka, Elzbieta; Kang, Jun-Suk; Ratzka, Susanne; Kremer, Berry; Stephenson, Dennis A.; Melegh, Béla; Pandolfo, Massimo; Du Montcel, Sophie Tezenas; Borkert, Johannes; Schulz, Jörg B.; Klockgether, Thomas
    Spinocerebellar ataxia types 1, 2, 3 and 6 : The clinical spectrum of ataxia and morphometric brainstem and cerebellar findings
    In: The Cerebellum, Jg. 11, 2012, Nr. 1, S. 155 – 166
    DOI
  • Bonella, Francesco; Bauer, Peter C.; Griese, Matthias; Wessendorf, Thomas E.; Guzman, Josune; Costabel, Ulrich
    Wash-out kinetics and efficacy of a modified lavage technique for alveolar proteinosis
    In: European Respiratory Journal (ERJ), Jg. 40, 2012, Nr. 6, S. 1468 – 1474
    DOI
  • Grasshoff, Ute; Bonin, Michael; Goehring, Ina; Ekici, Arif; Dufke, Andreas; Cremer, Kirsten; Wagner, Nicholas; Rossier, Eva; Jauch, Anna; Walter, Michael; Bauer, Claudia; Bauer, Peter; Horber, Karl; Beck-Woedl, Stefanie; Wieczorek, Dagmar
    De novo MECP2 duplication in two females with random X-inactivation and moderate mental retardation
    In: European Journal of Human Genetics, Jg. 19, 2011, Nr. 5, S. 507 – 512
    DOI
  • Bonella, Francesco; Bauer, Peter; Griese, Matthias; Ohshimo, Shinichiro; Guzman, Josune; Costabel, Ulrich
    Pulmonary alveolar proteinosis : New insights from a single-center cohort of 70 patients
    In: Respiratory Medicine, Jg. 105, 2011, Nr. 12, S. 1908 – 1916
    DOI
  • Jacobi, H.; Bauer, P.; Giunti, P.; Labrum, R.; Sweeney, M.G.; Charles, P.; Dürr, A.; Marelli, C.; Globas, C.; Linnemann, C.; Schöls, L.; Rakowicz, M.; Rola, R.; Zdzienicka, E.; Schmitz-Hübsch, T.; Fancellu, R.; Mariotti, C.; Tomasello, C.; Baliko, L.; Melegh, B.; Filla, A.; Rinaldi, C.; Van De Warrenburg, B.P.; Verstappen, C.C.P.; Szymanski, S.; Berciano, J.; Infante, J.; Timmann-Braun, Dagmar; Boesch, S.; Hering, S.; Depondt, C.; Pandolfo, M.; Kang, J.-S.; Ratzka, S.; Schulz, J.; Du Montcel, S. Tezenas; Klockgether, T.; Tezenas du Montcel, S.
    The natural history of spinocerebellar ataxia type 1, 2, 3, and 6: A 2-year follow-up study
    In: Neurology, Jg. 77, 2011, Nr. 11, S. 1035 – 1041
    DOI
  • Schulz, Jörg B.; Borkert, Johannes; Wolf, Stefanie; Schmitz-Hübsch, Tanja; Rakowicz, Maryla; Mariotti, Caterina; Schoels, Ludger; Timmann-Braun, Dagmar; van de Warrenburg, Bart; Dürr, Alexandra; Pandolfo, Massimo; Kang, Jun-Suk; Mandly, Andrés González; Nägele, Thomas; Grisoli, Marina; Boguslawska, Romana; Bauer, Peter; Klockgether, Thomas; Hauser, Till-Karsten
    Visualization, quantification and correlation of brain atrophy with clinical symptoms in spinocerebellar ataxia types 1, 3 and 6
    In: NeuroImage, Jg. 49, 2010, Nr. 1, S. 158 – 168
    DOI
  • Schulz, Joerg B.; Borkert, Johannes; Wolf, Stefanie; Schmitz-Huebsch, Tanja; Rakowicz, Maryla; Mariotti, Caterina; Schols, Ludger; Timmann-Braun, Dagmar; van de Warrenburg, Bart; Durr, Alexandra; Pandolfo, Massimo; Kang, Jun-Suk; Mandly, Andres G.; Nagele, Thomas; Grisoli, Marina; Boguslawska, Romana; Bauer, Peter; Klockgether, Thomas; Hauser, Till-Karsten
    Visualization, quantification and correlation of brain atrophy with clinical symptoms in spinocerebellar ataxia types 1, 3 and 6 (vol 49, pg 158, 2010)
    In: NeuroImage, Jg. 50, 2010, Nr. 4, S. 1712
    DOI

    • Abstracts

  • Jacobi, H.; Bauer, Peter; Giunti, P.; Labrum, R.; Sweeney, M. G.; Charles, P.; Durr, A.; Marelli, C.; Globas, C.; Linnemann, C.; Schols, L.; Rakowicz, M.; Rola, R.; Zdzienicka, E.; Schmitz-Hubsch, T.; Facellu, R.; Mariotti, C.; Tomasello, C.; Baliko, L.; Melegh, B.; Filla, A.; Rinaldi, C.; van de Warrenburg, B. P.; Verstappen, CCP; Szymanski, S.; Berciano, J.; Infante, J.; Timmann-Braun, Dagmar; Boesch, S.; Hering, S.; Depondt, C.; Pandolfo, M.; Kang, J. S.; Ratzka, S.; Schulz, J.; du Montcel, S. T.; Klockgether, T.
    The natural history of spinocerebellar ataxia type 1, 2, 3 and 6 : A 2-year follow-up study
    The Fifteenth International Congress of Parkinson's Disease and Movement Disorders May 2011,
    In: Movement Disorders. Hoboken: Wiley-Blackwell - STM, Jg. 26, 2011, Nr. Suppl. 2, S. S5
    DOI