Auflistung Universitätsbibliographie nach Autor "Bauer, Peter"

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Auflistung Universitätsbibliographie nach Autor "Bauer, Peter"

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  • 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)
  • Identifying Niemann-Pick type C in early-onset ataxia: two quick clinical screening tools
    Synofzik, Matthis; Fleszar, Zofia; Schols, Ludger; Just, Jennifer; Bauer, Peter; Martin, Juan V. Torres; Kolb, Stefan (2016)
  • 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)
  • Investigating the effects of additional truncating variants in DNA-repair genes on breast cancer risk in BRCA1-positive women
    Sepahi, Ilnaz; Faust, Ulrike; Sturm, Marc; Bosse, Kristin; Kehrer, Martin; Heinrich, Tilman; Grundman-Hauser, Kathrin; Bauer, Peter; Ossowski, Stephan; Susak, Hana; Varon, Raymonda; Schroeck, Evelin; Niederacher, Dieter; Auber, Bernd; Sutter, Christian; Arnold, Norbert; Hahnen, Eric; Dworniczak, Bernd; Wang-Gorke, Shan; Gehrig, Andrea; Weber, Bernhard H. F.; Engel, Christoph; Lemke, Johannes R.; Hartkopf, Andreas; Huu Phuc Nguyen; Riess, Olaf; Schroeder, Christopher (2019)
  • iVacALL: utilizing next-generation sequencing for the establishment of an individual peptide vaccination approach for paediatric acute lymphoblastic leukaemia
    Kyzirakos, C.; Pflueckhahn, U.; Sturm, M.; Schroeder, C.; Bauer, P.; Walter, M.; Feldhahn, M.; Walzer, M.; Mohr, C.; Szolek, A.; Bonin, M.; Kohlbacher, Oliver; Ebinger, M.; Handgretinger, Rupert; Rammensee, Hans-Georg; Land, P. (2013)
  • Klinik und Genetik der spastischen Spinalparalysen
    Schoels, L.; Schlipf, N.; Soehn, A. S.; Bauer, P. (2013)
  • Lack of sequence variations in THAP1 gene and THAP1-binding sites in TOR1A promoter of DYT1 patients
    Palada, Vinko; Stiern, Sandra Katharina; Glöckle, Nicola Theresa; Gomez-Garre, Pilar; Mir, Pablo; Szczaluba, Krzysztof; Tinazzi, Michele; Ajena, Domenica; Romani, Marta; Valente, Enza Maria; Müller, Ulrich; Bauer, Peter; Rieß, Olaf; Ott, Thomas; Grundmann, Kathrin (2012)
  • Lactotransferrin gene (LTF) polymorphisms and dental implant loss: a case-control association study
    Doetzer, Andrea Duarte; Schlipf, Nina; Alvim-Pereira, Fabiano; Alvim-Pereira, Claudia Cristina; Werneck, Renata; Riess, Olaf; Bauer, Peter; Trevilatto, Paula Cristina (2015)
  • Lactotransferrin Gene Polymorphism Associated with Caries Experience
    Doetzer, Andrea D.; Brancher, Joao A.; Pecharki, Giovana D.; Schlipf, Nina; Werneck, Renata; Mira, Marcelo T.; Riess, Olaf; Bauer, Peter; Trevilatto, Paula Cristina (2015)
  • 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 of PGAP1 as a cause of severe encephalopathy identified by Whole Exome Sequencing: Lessons of the bioinformatics pipeline
    Granzow, M.; Paramasivam, N.; Hinderhofer, K.; Fischer, C.; Chotewutmontri, S.; Kaufmann, L.; Evers, C.; Kotzaeridou, U.; Rohrschneider, K.; Schlesner, M.; Sturm, M.; Pinkert, S.; Eils, R.; Bartram, C. R.; Bauer, P.; Moog, U. (2015)
  • 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)
  • Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes
    du Montcel, Sophie Tezenas; Durr, Alexandra; Bauer, Peter; Figueroa, Karla P.; Ichikawa, Yaeko; Brussino, Alessandro; Forlani, Sylvie; Rakowicz, Maria; Schoels, Ludger; Mariotti, Caterina; van de Warrenburg, Bart P. C.; Orsi, Laura; Giunti, Paola; Filla, Alessandro; Szymanski, Sandra; Klockgether, Thomas; Berciano, Jose; Pandolfo, Massimo; Boesch, Sylvia; Melegh, Bela; Timmann, Dagmar; Mandich, Paola; Camuzat, Agnes; Goto, Jun; Ashizawa, Tetsuo; Cazeneuve, Cecile; Tsuji, Shoji; Pulst, Stefan-M.; Brusco, Alfredo; Riess, Olaf; Brice, Alexis; Stevanin, Giovanni (2014)
  • MPV17 mutations in juvenile- and adult-onset axonal sensorimotor polyneuropathy
    Baumann, Matthias; Schreiber, Herbert; Schlotter-Weigel, Beate; Loescher, Wolfgang N.; Stucka, Rolf; Karall, Daniela; Strom, Tim M.; Bauer, Peter; Krabichler, Birgit; Fauth, Christine; Glaeser, Dieter; Senderek, Jan (2019)
  • Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47)
    Bauer, Peter; Leshinsky-Silver, Esther; Blumkin, Lubov; Schlipf, Nina; Schroeder, Christopher; Schicks, Julia; Lev, Dorit; Riess, Olaf; Lerman-Sagie, Tally; Schoels, Ludger (2012)
  • Next generation sequencing of the clonal IGH rearrangement detects ongoing mutations and interfollicular trafficking in in situ follicular neoplasia
    Kosmidis, Perikles; Bonzheim, Irina; Dufke, Claudia; Colak, Sema; Hentrich, Thomas; Schroeder, Christopher; Bauer, Peter; Adam, Patrick; Fend, Falko (2017)
  • Next-generation sequencing in X-linked intellectual disability
    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; Kuechler, Alma; Schulz, Solveig; Meinecke, Peter; Spranger, Stephanie; Kohlhase, Juergen; Seidel, Joerg; Reif, Silke; Rieger, Manuela; Riess, Angelika; Sturm, Marc; Bickmann, Julia; Schroeder, Christopher; Dufke, Andreas; Riess, Olaf; Bauer, Peter (2015)
  • NPC1 is enriched in unexplained early onset ataxia: a targeted high-throughput screening
    Synofzik, Matthis; Harmuth, Florian; Stampfer, Miriam; Hagen, Jennifer Mueller Vom; Schoels, Ludger; Bauer, Peter (2015)
  • Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder
    Frints, Suzanna G. M.; Ozanturk, Aysegul; Rodriguez Criado, German; Grasshoff, Ute; de Hoon, Bas; Field, Michael; Manouvrier-Hanu, Sylvie; Hickey, Scott E.; Kammoun, Molka; Gripp, Karen W.; Bauer, Claudia; Schroeder, Christopher; Toutain, Annick; Mosher, Theresa Mihalic; Kelly, Benjamin J.; White, Peter; Dufke, Andreas; Rentmeester, Eveline; Moon, Sungjin; Koboldt, Daniel C.; van Roozendaal, Kees E. P.; Hu, Hao; Haas, Stefan A.; Ropers, Hans-Hilger; Murray, Lucinda; Haan, Eric; Shaw, Marie; Carroll, Renee; Friend, Kathryn; Liebelt, Jan; Hobson, Lynne; De Rademaeker, Marjan; Geraedts, Joep; Fryns, Jean-Pierre; Vermeesch, Joris; Raynaud, Martine; Riess, Olaf; Gribnau, Joost; Katsanis, Nicholas; Devriendt, Koen; Bauer, Peter; Gecz, Jozef; Golzio, Christelle; Gontan, Cristina; Kalscheuer, Vera M. (2019)