Auflistung Universitätsbibliographie nach Autor "Schüle-Freyer, Rebecca"

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Auflistung Universitätsbibliographie nach Autor "Schüle-Freyer, Rebecca"

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  • A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes
    Dufke, Claudia; Schlipf, Nina; Schuele, Rebecca; Bonin, Michael; Auer-Grumbach, Michaela; Stevanin, Giovanni; Depienne, Christel; Kassubek, Jan; Klebe, Stephan; Klimpe, Sven; Klopstock, Thomas; Otto, Susanne; Poths, Sven; Seibel, Andrea; Stolze, Henning; Gal, Andreas; Schoels, Ludger; Bauer, Peter (2012)
  • A Recurrent Mutation in KCNA2 as a Novel Cause of Hereditary Spastic Paraplegia and Ataxia
    Helbig, Katherine L.; Hedrich, Ulrike B. S.; Shinde, Deepali N.; Krey, Ilona; Teichmann, Anne-Christin; Hentschel, Julia; Schubert, Julian; Chamberlin, Adam C.; Huether, Robert; Lu, Hsiao-Mei; Alcaraz, Wendy A.; Tang, Sha; Jungbluth, Chelsy; Dugan, Sarah L.; Vainionpaa, Leena; Karle, Kathrin N.; Synofzik, Matthis; Lehesjoki, Anna-Elina; Helbig, Ingo; Lerche, Holger; Lemke, Johannes R.; Schöls, Ludger; Schüle-Freyer, Rebecca (2016)
  • Abnormal Paraplegin Expression in Swollen Neurites, tau- and alpha-Synuclein Pathology in a Case of Hereditary Spastic Paraplegia SPG7 with an Ala510Val Mutation
    Thal, Dietmar R.; Zuechner, Stephan; Gierer, Stephan; Schulte, Claudia; Schoels, Ludger; Schuele, Rebecca; Synofzik, Matthis (2015)
  • Absence of BiP Co-chaperone DNAJC3 Causes Diabetes Mellitus and Multisystemic Neurodegeneration
    Synofzik, Matthis; Haack, Tobias B.; Kopajtich, Robert; Gorza, Matteo; Rapaport, Doron; Greiner, Markus; Schoenfeld, Caroline; Freiberg, Clemens; Schorr, Stefan; Holl, Reinhard W.; Gonzalez, Michael A.; Fritsche, Andreas; Fallier-Becker, Petra; Zimmermann, Richard; Strom, Tim M.; Meitinger, Thomas; Zuechner, Stephan; Schuele, Rebecca; Schoels, Ludger; Prokisch, Holger (2014)
  • Aicardi-Goutieres syndrome due to a paternal mosaic IFIH1 mutation
    Tuengler, Victoria; Doebler-Neumann, Marion; Salandin, Michaela; Kaufmann, Peter; Wolf, Christine; Lucas, Nadja; Harmuth, Florian; Reichbauer, Jennifer; Kraegeloh-Mann, Ingeborg; Schuele, Rebecca; Lee-Kirsch, Min Ae (2020)
  • Alteration of Fatty-Acid-Metabolizing Enzymes Affects Mitochondrial Form and Function in Hereditary Spastic Paraplegia
    Tesson, Christelle; Nawara, Magdalena; Salih, Mustafa A. M.; Rossignol, Rodrigue; Zaki, Maha S.; Al Balwi, Mohammed; Schule, Rebecca; Mignot, Cyril; Obre, Emilie; Bouhouche, Ahmed; Santorelli, Filippo M.; Durand, Christelle M.; Oteyza, Andres Caballero; El-Hachimi, Khalid H.; Al Drees, Abdulmajeed; Bouslam, Naima; Lamari, Foudil; Elmalik, Salah A.; Kabiraj, Mohammad M.; Seidahmed, Mohammed Z.; Esteves, Typhaine; Gaussen, Marion; Monin, Marie-Lorraine; Gyapay, Gabor; Lechner, Doris; Gonzalez, Michael; Depienne, Christel; Mochel, Fanny; Lavie, Julie; Schols, Ludger; Lacombe, Didier; Yahyaoui, Mohamed; Al Abdulkareem, Ibrahim; Zuchner, Stephan; Yamashita, Atsushi; Benomar, Ali; Goizet, Cyril; Durr, Alexandra; Gleeson, Joseph G.; Darios, Frederic; Brice, Alexis; Stevanin, Giovanni (2012)
  • Alteration of Ganglioside Biosynthesis Responsible for Complex Hereditary Spastic Paraplegia
    Boukhris, Amir; Schule, Rebecca; Loureiro, Jose L.; Lourenco, Charles Marques; Mundwiller, Emeline; Gonzalez, Michael A.; Charles, Perrine; Gauthier, Julie; Rekik, Imen; Acosta Lebrigio, Rafael F.; Gaussen, Marion; Speziani, Fiorella; Ferbert, Andreas; Feki, Imed; Caballero-Oteyza, Andres; Dionne-Laporte, Alexandre; Amri, Mohamed; Noreau, Anne; Forlani, Sylvie; Cruz, Vitor T.; Mochel, Fanny; Coutinho, Paula; Dion, Patrick; Mhiri, Chokri; Schols, Ludger; Pouget, Jean; Darios, Frederic; Rouleau, Guy A.; Marques, Wilson; Brice, Alexis; Durr, Alexandra; Zuchner, Stephan; Stevanin, Giovanni (2013)
  • Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia
    Coutelier, Marie; Goizet, Cyril; Durr, Alexandra; Habarou, Florence; Morais, Sara; Dionne-Laporte, Alexandre; Tao, Feifei; Konop, Juliette; Stoll, Marion; Charles, Perrine; Jacoupy, Maxime; Matusiak, Raphael; Alonso, Isabel; Tallaksen, Chantal; Mairey, Mathilde; Kennerson, Marina; Gaussen, Marion; Schule, Rebecca; Janin, Maxime; Morice-Picard, Fanny; Durand, Christelle M.; Depienne, Christel; Calvas, Patrick; Coutinho, Paula; Saudubray, Jean-Marie; Rouleau, Guy; Brice, Alexis; Nicholson, Garth; Darios, Frederic; Loureiro, Jose L.; Zuchner, Stephan; Ottolenghi, Chris; Mochel, Fanny; Stevanin, Giovanni (2015)
  • Assessing non-Mendelian inheritance in inherited axonopathies
    Bis-Brewer, Dana M.; Gan-Or, Ziv; Sleiman, Patrick; Hakonarson, Hakon; Fazal, Sarah; Courel, Steve; Cintra, Vivian; Tao, Feifei; Estiar, Mehrdad A.; Tarnopolsky, Mark; Boycott, Kym M.; Yoon, Grace; Suchowersky, Oksana; Dupre, Nicolas; Cheng, Andrew; Lloyd, Thomas E.; Rouleau, Guy; Schuele, Rebecca; Zuchner, Stephan (2020)
  • 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 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)
  • Beyond ALS and FTD : the phenotypic spectrum of TBK1 mutations includes PSP-like and cerebellar phenotypes
    Wilke, Carlo; Baets, Jonathan; De Bleecker, Jan L.; Deconinck, Tine; Biskup, Saskia; Hayer, Stefanie N.; Zuchner, Stephan; Schuele, Rebecca; De Jonghe, Peter; Synofzik, Matthis (2018)
  • Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia
    Wagner, Matias; Osborn, Daniel P. S.; Gehweiler, Ina; Nagel, Maike; Ulmer, Ulrike; Bakhtiari, Somayeh; Amouri, Rim; Boostani, Reza; Hentati, Faycal; Hockley, Maryam M.; Hoelbling, Benedikt; Schwarzmayr, Thomas; Karimiani, Ehsan Ghayoor; Kernstock, Christoph; Maroofian, Reza; Mueller-Felber, Wolfgang; Ozkan, Ege; Padilla-Lopez, Sergio; Reich, Selina; Reichbauer, Jennifer; Darvish, Hossein; Shahmohammadibeni, Neda; Tafakhori, Abbas; Vill, Katharina; Zuchner, Stephan; Kruer, Michael C.; Winkelmann, Juliane; Jamshidi, Yalda; Schuele, Rebecca (2019)
  • Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes
    Cortese, Andrea; Zhu, Yi; Rebelo, Adriana P.; Negri, Sara; Courel, Steve; Abreu, Lisa; Bacon, Chelsea J.; Bai, Yunhong; Bis-Brewer, Dana M.; Bugiardini, Enrico; Buglo, Elena; Danzi, Matt C.; Feely, Shawna M. E.; Athanasiou-Fragkouli, Alkyoni; Haridy, Nourelhoda A.; Isasi, Rosario; Khan, Alaa; Laura, Matilde; Magri, Stefania; Pipis, Menelaos; Pisciotta, Chiara; Powell, Eric; Rossor, Alexander M.; Saveri, Paola; Sowden, Janet E.; Tozza, Stefano; Vandrovcova, Jana; Dallman, Julia; Grignani, Elena; Marchioni, Enrico; Scherer, Steven S.; Tang, Beisha; Lin, Zhiqiang; Al-Ajmi, Abdullah; Schuele, Rebecca; Synofzik, Matthis; Maisonobe, Thierry; Stojkovic, Tanya; Auer-Grumbach, Michaela; Abdelhamed, Mohamed A.; Hamed, Sherifa A.; Zhang, Ruxu; Manganelli, Fiore; Santoro, Lucio; Taroni, Franco; Pareyson, Davide; Houlden, Henry; Herrmann, David N.; Reilly, Mary M.; Shy, Michael E.; Zhai, R. Grace; Zuchner, Stephan (2020)
  • 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)
  • 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)
  • Cholestenoic acids regulate motor neuron survival via liver X receptors
    Theofilopoulos, Spyridon; Griffiths, William J.; Crick, Peter J.; Yang, Shanzheng; Meljon, Anna; Ogundare, Michael; Kitambi, Satish Srinivas; Lockhart, Andrew; Tuschl, Karin; Clayton, Peter T.; Morris, Andrew A.; Martinez, Adelaide; Reddy, M. Ashwin; Martinuzzi, Andrea; Bassi, Maria T.; Honda, Akira; Mizuochi, Tatsuki; Kimura, Akihiko; Nittono, Hiroshi; De Michele, Giuseppe; Carbone, Rosa; Criscuolo, Chiara; Yau, Joyce L.; Seckl, Jonathan R.; Schuele, Rebecca; Schoels, Ludger; Sailer, Andreas W.; Kuhle, Jens; Fraidakis, Matthew J.; Gustafsson, Jan-Ake; Steffensen, Knut R.; Bjorkhem, Ingemar; Ernfors, Patrik; Sjovall, Jan; Arenas, Ernest; Wang, Yuqin (2014)
  • Clinical and molecular characterization of adult patients with late-onset MTHFR deficiency
    Marelli, Cecilia; Lavigne, Christian; Stepien, Karolina M.; Janssen, Mirian C. H.; Feillet, Francois; Kozich, Viktor; Jesina, Pavel; Schule, Rebecca; Kessler, Christoph; Redonnet-Vernhet, Isabelle; Regnier, Adeline; Burda, Patricie; Baumgartner, Matthias; Benoist, Jean-Francois; Huemer, Martina; Mochel, Fanny (2021)
  • Confirmation of TACO1 as a Leigh Syndrome Disease Gene in Two Additional Families
    Oktay, Yavuz; Gungor, Serdal; Zeltner, Lena; Wiethoff, Sarah; Schoels, Ludger; Sonmezler, Ece; Yilmaz, Elmasnur; Munro, Benjamin; Bender, Benjamin; Kernstock, Christoph; Kaemereit, Sofie; Liepelt, Inga; Topf, Ana; Yis, Uluc; Laurie, Steven; Yaramis, Ahmet; Zuchner, Stephan; Hiz, Semra; Lochmueller, Hanns; Schuele, Rebecca; Horvath, Rita (2020)