Auflistung 8 Zentrale, interfakultäre und fakultätsübergreifende Einrichtungen nach Autor "Bauer, Peter"

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Auflistung 8 Zentrale, interfakultäre und fakultätsübergreifende Einrichtungen nach Autor "Bauer, Peter"

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  • 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)
  • De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function
    Synofzik, Matthis; Helbig, Katherine L.; Harmuth, Florian; Deconinck, Tine; Tanpaiboon, Pranoot; Sun, Bo; Guo, Wenting; Wang, Ruiwu; Palmaer, Erika; Tang, Sha; Schaefer, G. Bradley; Gburek-Augustat, Janina; Zuchner, Stephan; Kraegeloh-Mann, Ingeborg; Baets, Jonathan; de Jonghe, Peter; Bauer, Peter; Chen, S. R. Wayne; Schoels, Ludger; Schuele, Rebecca (2018)
  • FAHN/SPG35 : a narrow phenotypic spectrum across disease classifications
    Rattay, Tim W.; Lindig, Tobias; Baets, Jonathan; Smets, Katrien; Deconinck, Tine; Soehn, Anne S.; Hoertnagel, Konstanze; Eckstein, Kathrin N.; Wiethoff, Sarah; Reichbauer, Jennifer; Doebler-Neumann, Marion; Kraegeloh-Mann, Ingeborg; Auer-Grumbach, Michaela; Plecko, Barbara; Muenchau, Alexander; Wilken, Bernd; Janauschek, Marc; Giese, Anne-Katrin; De Bleecker, Jan L.; Ortibus, Els; Debyser, Martine; Lopez de Munain, Adolfo; Pujol, Aurora; Bassi, Maria Teresa; D'Angelo, Maria Grazia; De Jonghe, Peter; Zuchner, Stephan; Bauer, Peter; Schoels, Ludger; Schuele, Rebecca (2019)
  • Genome-Wide Comparison of Medieval and Modern Mycobacterium leprae
    Schuenemann, Verena J.; Singh, Pushpendra; Mendum, Thomas A.; Krause-Kyora, Ben; Jaeger, Guenter; Bos, Kirsten I.; Herbig, Alexander; Economou, Christos; Benjak, Andrej; Busso, Philippe; Nebel, Almut; Boldsen, Jesper L.; Kjellstrom, Anna; Wu, Huihai; Stewart, Graham R.; Taylor, G. Michael; Bauer, Peter; Lee, Oona Y. -C.; Wu, Houdini H. T.; Minnikin, David E.; Besra, Gurdyal S.; Tucker, Katie; Roffey, Simon; Sow, Samba O.; Cole, Stewart T.; Nieselt, Kay; Krause, Johannes (2013)
  • 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)
  • Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial
    Schoels, Ludger; Rattay, Tim W.; Martus, Peter; Meisner, Christoph; Baets, Jonathan; Fischer, Imma; Jaegle, Christine; Fraidakis, Matthew J.; Martinuzzi, Andrea; Saute, Jonas Alex; Scarlato, Marina; Antenora, Antonella; Stendel, Claudia; Hoeflinger, Philip; Lourenco, Charles Marques; Abreu, Lisa; Smets, Katrien; Paucar, Martin; Deconinck, Tine; Bis, Dana M.; Wiethoff, Sarah; Bauer, Peter; Arnoldi, Alessia; Marques, Wilson; Jardim, Laura Bannach; Hauser, Stefan; Criscuolo, Chiara; Filla, Alessandro; Zuchner, Stephan; Bassi, Maria Teresa; Klopstock, Thomas; De Jonghe, Peter; Bjorkhem, Ingemar; Schuele, Rebecca (2017)
  • Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients
    Schuele, Rebecca; Wiethoff, Sarah; Martus, Peter; Karle, Kathrin N.; Otto, Susanne; Klebe, Stephan; Klimpe, Sven; Gallenmueller, Constanze; Kurzwelly, Delia; Henkel, Dorothea; Rimmele, Florian; Stolze, Henning; Kohl, Zacharias; Kassubek, Jan; Klockgether, Thomas; Vielhaber, Stefan; Kamm, Christoph; Klopstock, Thomas; Bauer, Peter; Zuechner, Stephan; Liepelt-Scarfone, Inga; Schoels, Ludger (2016)
  • 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)
  • 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)
  • 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)
  • Personalized peptide vaccine-induced immune response associated with long-term survival of a metastatic cholangiocarcinoma patient
    Loeffler, Markus W.; Chandran, P. Anoop; Laske, Karoline; Schroeder, Christopher; Bonzheim, Irina; Walzer, Mathias; Hilke, Franz J.; Trautwein, Nico; Kowalewski, Daniel J.; Schuster, Heiko; Guender, Marc; Yanez, Viviana A. Carcamo; Mohr, Christopher; Sturm, Marc; Huu-Phuc Nguyen; Riess, Olaf; Bauer, Peter; Nahnsen, Sven; Nadalin, Silvio; Zieker, Derek; Glatzle, Joerg; Thiel, Karolin; Schneiderhan-Marra, Nicole; Clasen, Stephan; Boesmueller, Hans; Fend, Falko; Kohlbacher, Oliver; Gouttefangeas, Cecile; Stevanovic, Stefan; Koenigsrainer, Alfred; Rammensee, Hans-Georg (2016)
  • 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)
  • Recommendations for patient screening in ultra-rare inherited metabolic diseases : what have we learned from Niemann-Pick disease type C?
    Sobrido, Maria-Jesus; Bauer, Peter; de Koning, Tom; Klopstock, Thomas; Nadjar, Yann; Patterson, Marc C.; Synofzik, Matthis; Hendriksz, Chris J. (2019)
  • Resequencing the complete SNCA locus in Indian patients with Parkinson's disease
    Kishore, Asha; Sturm, Marc; Pillai, Kanchana Soman; Hakkaart, Christopher; Puthanveedu, Divya Kalikavil; Urulangodi, Madhusoodanan; Krishnan, Syam; Sreelatha, Ashwin Ashok Kumar; Rajan, Roopa; Pal, Pramod Kumar; Yadav, Ravi; Sarma, Gangadhara; Casadei, Nicolas; Gasser, Thomas; Bauer, Peter; Riess, Olaf; Sharma, Manu (2024)
  • Spinocerebellar ataxia type 14: refining clinicogenetic diagnosis in a rare adult-onset disorder
    Schmitz-Huebsch, Tanja; Lux, Silke; Bauer, Peter; Brandt, Alexander U.; Schlapakow, Elena; Greschus, Susanne; Scheel, Michael; Gaertner, Hanna; Kirlangic, Mehmet E.; Gras, Vincent; Timmann, Dagmar; Synofzik, Matthis; Giorgetti, Alejandro; Carloni, Paolo; Shah, Jon N.; Schoels, Ludger; Kopp, Ute; Bussenius, Lisa; Oberwahrenbrock, Timm; Zimmermann, Hanna; Pfueller, Caspar; Kadas, Ella-Maria; Roennefarth, Maria; Grosch, Anne-Sophie; Endres, Matthias; Amunts, Katrin; Paul, Friedemann; Doss, Sarah; Minnerop, Martina (2021)
  • Survival in patients with spinocerebellar ataxia types 1, 2, 3, and 6 (EUROSCA): a longitudinal cohort study
    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-Huebsch, Tanja; Hengel, Holger; Melegh, Bela; Filla, Alessandro; Antenora, Antonella; Infante, Jon; Berciano, Jose; van de Warrenburg, Bart P.; Timmann, Dagmar; Boesch, Sylvia; Pandolfo, Massimo; Schulz, Jorg B.; Bauer, Peter; Giunti, Paola; Kang, Jun-Suk; Klockgether, Thomas; du Montcel, Sophie Tezenas; Schöls, Ludger (2018)