Auflistung Universitätsbibliographie nach Autor "Lohmann, Ebba"

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Auflistung Universitätsbibliographie nach Autor "Lohmann, Ebba"

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  • A comprehensive analysis of copy number variation in a Turkish dementia cohort
    Dehghani, Nadia; Guven, Gamze; Kun-Rodrigues, Celia; Gouveia, Catarina; Foster, Kalina; Hanagasi, Hasmet; Lohmann, Ebba; Samanci, Bedia; Gurvit, Hakan; Bilgic, Basar; Bras, Jose; Guerreiro, Rita (2021)
  • A Missense Mutation in KCTD17 Causes Autosomal Dominant Myoclonus-Dystonia
    Mencacci, Niccolo E.; Rubio-Agusti, Ignacio; Zdebik, Anselm; Asmus, Friedrich; Ludtmann, Marthe H. R.; Ryten, Mina; Plagnol, Vincent; Hauser, Ann-Kathrin; Bandres-Ciga, Sara; Bettencourt, Conceicao; Forabosco, Paola; Hughes, Deborah; Soutar, Marc M. P.; Peall, Kathryn; Morris, Huw R.; Trabzuni, Daniah; Tekman, Mehmet; Stanescu, Horia C.; Kleta, Robert; Carecchio, Miryam; Zorzi, Giovanna; Nardocci, Nardo; Garavaglia, Barbara; Lohmann, Ebba; Weissbach, Anne; Klein, Christine; Hardy, John; Pittman, Alan M.; Foltynie, Thomas; Abramov, Andrey Y.; Gasser, Thomas; Bhatia, Kailash P.; Wood, Nicholas W. (2015)
  • A new alpha-synuclein missense variant (Thr72Met) in two Turkish families with Parkinson's disease
    Fevga, Christina; Park, Yangshin; Lohmann, Ebba; Kievit, Anneke J.; Breedveld, Guido J.; Ferraro, Federico; de Boer, Leon; van Minkelen, Rick; Hanagasi, Hasmet; Boon, Agnita; Wang, Wei; Petsko, Gregory A.; Hoang, Quyen Q.; Emre, Murat; Bonifati, Vincenzo (2021)
  • A new F-box protein 7 gene mutation causing typical Parkinson's disease
    Lohmann, Ebba; Coquel, Anne-Sophie; Honore, Aurelie; Gurvit, Hakan; Hanagasi, Hasmet; Emre, Murat; Leutenegger, Anne L.; Drouet, Valerie; Sahbatou, Mourad; Guven, Gamze; Erginel-Unaltuna, Nihan; Deleuze, Jean-Francois; Lesage, Suzanne; Brice, Alexis (2015)
  • A novel compound heterozygous mutation in TREM2 found in a Turkish frontotemporal dementia-like family
    Guerreiro, Rita; Bilgic, Basar; Guven, Gamze; Bras, Jose; Rohrer, Jonathan; Lohmann, Ebba; Hanagasi, Hasmet; Gurvit, Hakan; Emre, Murat (2013)
  • A novel homozygous DJ1 mutation causes parkinsonism and ALS in a Turkish family
    Hanagasi, Hasmet A.; Giri, Anamika; Kartal, Ece; Guven, Gamze; Bilgic, Basar; Hauser, Ann-Kathrin; Emre, Murat; Heutink, Peter; Basak, Nazh; Gasser, Thomas; Simon-Sanchez, Javier; Lohmann, Ebba (2016)
  • A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy
    Muona, Mikko; Berkovic, Samuel F.; Dibbens, Leanne M.; Oliver, Karen L.; Maljevic, Snezana; Bayly, Marta A.; Joensuu, Tarja; Canafoglia, Laura; Franceschetti, Silvana; Michelucci, Roberto; Markkinen, Salla; Heron, Sarah E.; Hildebrand, Michael S.; Andermann, Eva; Andermann, Frederick; Gambardella, Antonio; Tinuper, Paolo; Licchetta, Laura; Scheffer, Ingrid E.; Criscuolo, Chiara; Filla, Alessandro; Ferlazzo, Edoardo; Ahmad, Jamil; Ahmad, Adeel; Baykan, Betul; Said, Edith; Topcu, Meral; Riguzzi, Patrizia; King, Mary D.; Ozkara, Cigdem; Andrade, Danielle M.; Engelsen, Bernt A.; Crespel, Arielle; Lindenau, Matthias; Lohmann, Ebba; Saletti, Veronica; Massano, Joao; Privitera, Michael; Espay, Alberto J.; Kauffmann, Birgit; Duchowny, Michael; Moller, Rikke S.; Straussberg, Rachel; Afawi, Zaid; Ben-Zeev, Bruria; Samocha, Kaitlin E.; Daly, Mark J.; Petrou, Steven; Lerche, Holger; Palotie, Aarno; Lehesjoki, Anna-Elina (2015)
  • A systematic review of progranulin concentrations in biofluids in over 7,000 people-assessing the pathogenicity of GRN mutations and other influencing factors
    Swift, Imogen J.; Rademakers, Rosa; Finch, Nicole; Baker, Matt; Ghidoni, Roberta; Benussi, Luisa; Binetti, Giuliano; Rossi, Giacomina; Synofzik, Matthis; Wilke, Carlo; Mengel, David; Graff, Caroline; Takada, Leonel T.; Sanchez-Valle, Raquel; Antonell, Anna; Galimberti, Daniela; Fenoglio, Chiara; Serpente, Maria; Arcaro, Marina; Schreiber, Stefanie; Vielhaber, Stefan; Arndt, Philipp; Santana, Isabel; Almeida, Maria Rosario; Moreno, Fermin; Barandiaran, Myriam; Gabilondo, Alazne; Stubert, Johannes; Gomez-Tortosa, Estrella; Agueero, Pablo; Sainz, M. Jose; Gohda, Tomohito; Murakoshi, Maki; Kamei, Nozomu; Kittel-Schneider, Sarah; Reif, Andreas; Weigl, Johannes; Jian, Jinlong; Liu, Chuanju; Serrero, Ginette; Greither, Thomas; Theil, Gerit; Lohmann, Ebba; Gazzina, Stefano; Bagnoli, Silvia; Coppola, Giovanni; Bruni, Amalia; Quante, Mirja; Kiess, Wieland; Hiemisch, Andreas; Jurkutat, Anne; Block, Matthew S.; Carlson, Aaron M.; Brathen, Geir; Sando, Sigrid Botne; Grontvedt, Goril Rolfseng; Lauridsen, Camilla; Heslegrave, Amanda; Heller, Carolin; Abel, Emily; Gomez-Nunez, Alba; Puey, Roger; Arighi, Andrea; Rotondo, Enmanuela; Jiskoot, Lize C.; Meeter, Lieke H. H.; Duraes, Joao; Lima, Marisa; Tabuas-Pereira, Miguel; Lemos, Joao; Boeve, Bradley; Petersen, Ronald C.; Dickson, Dennis W.; Graff-Radford, Neill R.; Leber, Isabelle; Sellami, Leila; Lamari, Foudil; Clot, Fabienne; Borroni, Barbara; Cantoni, Valentina; Rivolta, Jasmine; Lleo, Alberto; Fortea, Juan; Alcolea, Daniel; Illan-Gala, Ignacio; Andres-Cerezo, Lucie; Van Damme, Philip; Clarimon, Jordi; Steinacker, Petra; Feneberg, Emily; Otto, Markus; van der Ende, Emma L.; van Swieten, John C.; Seelaar, Harro; Zetterberg, Henrik; Sogorb-Esteve, Aitana; Rohrer, Jonathan D. (2024)
  • Association between selected cholesterol-related gene polymorphisms and Alzheimer's disease in a Turkish cohort
    Guven, Gamze; Vurgun, Eren; Bilgic, Basar; Hanagasi, Hasmet; Gurvit, Hakan; Ozer, Ebru; Lohmann, Ebba; Erginel-Unaltuna, Nihan (2019)
  • Biallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal recessive dystonia
    Mencacci, Niccolo E.; Brockmann, Marisa M.; Dai, Jinye; Pajusalu, Sander; Atasu, Burcu; Campos, Joaquin; Pino, Gabriela; Gonzalez-Latapi, Paulina; Patzke, Christopher; Schwake, Michael; Tucci, Arianna; Pittman, Alan; Simon-Sanchez, Javier; Carvill, Gemma L.; Balint, Bettina; Wiethoff, Sarah; Warner, Thomas T.; Papandreou, Apostolos; Soo, Audrey; Rein, Reet; Kadastik-Eerme, Liis; Puusepp, Sanna; Reinson, Karit; Tomberg, Tiiu; Hanagasi, Hasmet; Gasser, Thomas; Bhatia, Kailash P.; Kurian, Manju A.; Lohmann, Ebba; Ounap, Katrin; Rosenmund, Christian; Sudhof, Thomas C.; Wood, Nicholas W.; Krainc, Dimitri; Acuna, Claudio (2021)
  • Characterization of Recessive Parkinson Disease in a Large Multicenter Study
    Lesage, Suzanne; Lunati, Ariane; Houot, Marion; Ben Romdhan, Sawssan; Clot, Fabienne; Tesson, Christelle; Mangone, Graziella; Le Toullec, Benjamin; Courtin, Thomas; Larcher, Kathy; Benmahdjoub, Mustapha; Arezki, Mohamed; Bouhouche, Ahmed; Anheim, Mathieu; Roze, Emmanuel; Viallet, Francois; Tison, Francois; Broussolle, Emmanuel; Emre, Murat; Hanagasi, Hasmet; Bilgic, Basar; Tazir, Meriem; Ben Djebara, Mouna; Gouider, Riadh; Tranchant, Christine; Vidailhet, Marie; Le Guern, Eric; Corti, Olga; Mhiri, Chokri; Lohmann, Ebba; Singleton, Andrew; Corvol, Jean-Christophe; Brice, Alexis (2020)
  • Clinical variability in ataxia-telangiectasia
    Lohmann, Ebba; Krueger, Stefanie; Hauser, Ann-Kathrin; Hanagasi, Hasmet; Guven, Gamze; Erginel-Unaltuna, Nihan; Biskup, Saskia; Gasser, Thomas (2015)
  • Clinical, neuropathological, and genetic characterization ofSTUB1variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment
    Roux, Thomas; Barbier, Mathieu; Papin, Melanie; 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 (2020)
  • Event-related potential changes due to early-onset Parkinson's disease in parkin (PARK2) gene mutation carriers and non-carriers
    Uslu, Atilla; Ergen, Mehmet; Demirci, Hasan; Lohmann, Ebba; Hanagasi, Hasmet; Demiralp, Tamer (2020)
  • Functional Studies of Missense TREM2 Mutations in Human Stem Cell-Derived Microglia
    Brownjohn, Philip W.; Smith, James; Solanki, Ravi; Lohmann, Ebba; Houlden, Henry; Hardy, John; Dietmann, Sabine; Livesey, Frederick J. (2018)
  • Genetic and Phenotypic Basis of Autosomal Dominant Parkinson's Disease in a Large Multi-Center Cohort
    Lesage, Suzanne; Houot, Marion; Mangone, Graziella; Tesson, Christelle; Bertrand, Helene; Forlani, Sylvie; Anheim, Mathieu; Brefel-Courbon, Christine; Broussolle, Emmanuel; Thobois, Stephane; Damier, Philippe; Durif, Franck; Roze, Emmanuel; Tison, Francois; Grabli, David; Ory-Magne, Fabienne; Degos, Bertrand; Viallet, Francois; Cormier-Dequaire, Florence; Ouvrard-Hernandez, Anne-Marie; Vidailhet, Marie; Lohmann, Ebba; Singleton, Andrew; Corvol, Jean-Christophe; Brice, Alexis (2020)
  • Genotype-Phenotype correlations of SCARB2 associated clinical presentation: a case report and in-depth literature review
    Atasu, Burcu; Acarli, Ayse Nur Ozdag; Bilgic, Basar; Baykan, Betul; Demir, Erol; Ozluk, Yasemin; Turkmen, Aydin; Hauser, Ann-Kathrin; Guven, Gamze; Hanagasi, Hasmet; Gurvit, Hakan; Emre, Murat; Gasser, Thomas; Lohmann, Ebba (2022)
  • HPCA Confirmed as a Genetic Cause of DYT2-Like Dystonia Phenotype
    Atasu, Burcu; Hanagasi, Hasmet; Bilgic, Basar; Pak, Meltem; Erginel-Unaltuna, Nihan; Hauser, Ann-Kathrin; Guven, Gamze; Simon-Sanchez, Javier; Heutink, Peter; Gasser, Thomas; Lohmann, Ebba (2018)
  • 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)
  • Loss of VPS1 3C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy
    Lesage, Suzanne; Drouet, Valerie; Majounie, Elisa; Deramecourt, Vincent; Jacoupy, Maxime; Nicolas, Aude; Cormier-Dequaire, Florence; Hassoun, Sidi Mohamed; Pujol, Claire; Ciura, Sorana; Erpapazoglou, Zoi; Usenko, Tatiana; Maurage, Claude-Alain; Sahbatou, Mourad; Liebau, Stefan; Ding, Jinhui; Bilgic, Basar; Emre, Murat; Erginel-Unaltuna, Nihan; Guven, Gamze; Tison, Francois; Tranchant, Christine; Vidailhet, Marie; Corvol, Jean-Christophe; Krack, Paul; Leutenegger, Anne-Louise; Nalls, Michael A.; Hernandez, Dena G.; Heutink, Peter; Gibbs, J. Raphael; Hardy, John; Wood, Nicholas W.; Gasser, Thomas; Durr, Alexandra; Deleuze, Jean-Francois; Tazir, Meriem; Destee, Alain; Lohmann, Ebba; Kabashi, Edor; Singleton, Andrew; Corti, Olga; Brice, Alexis (2016)