Auflistung Universitätsbibliographie nach Autor "Reich, Selina"

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Auflistung Universitätsbibliographie nach Autor "Reich, Selina"

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  • A de novo STUB1 variant associated with an early adult-onset multisystemic ataxia phenotype
    Mengel, David; Traschuetz, Andreas; Reich, Selina; Leyva-Gutierrez, Alejandra; Bender, Friedemann; Hauser, Stefan; Haack, Tobias B.; Synofzik, Matthis (2021)
  • 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)
  • Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients
    Traschuetz, Andreas; Schirinzi, Tommaso; Laugwitz, Lucia; Murray, Nathan H.; Bingman, Craig A.; Reich, Selina; Kern, Jan; Heinzmann, Anna; Vasco, Gessica; Bertini, Enrico; Zanni, Ginevra; Durr, Alexandra; Magri, Stefania; Taroni, Franco; Malandrini, Alessandro; Baets, Jonathan; de Jonghe, Peter; de Ridder, Willem; Bereau, Matthieu; Demuth, Stephanie; Ganos, Christos; Basak, A. Nazli; Hanagasi, Hasmet; Kurul, Semra Hiz; Bender, Benjamin; Schoels, Ludger; Grasshoff, Ute; Klopstock, Thomas; Horvath, Rita; van de Warrenburg, Bart; Burglen, Lydie; Rougeot, Christelle; Ewenczyk, Claire; Koenig, Michel; Santorelli, Filippo M.; Anheim, Mathieu; Munhoz, Renato P.; Haack, Tobias; Distelmaier, Felix; Pagliarini, David J.; Puccio, Helene; Synofzik, Matthis (2020)
  • Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans
    Collier, Jack J.; Guissart, Claire; Olahova, Monika; Sasorith, Souphatta; Piron-Prunier, Florence; Suomi, Fumi; Zhang, David; Martinez-Lopez, Nuria; Leboucq, Nicolas; Bahr, Angela; Azzarello-Burri, Silvia; Reich, Selina; Schoels, Ludger; Polvikoski, Tuomo M.; Meyer, Pierre; Larrieu, Lise; Schaefer, Andrew M.; Alsaif, Hessa S.; Alyamani, Suad; Zuchner, Stephan; Barbosa, Ines A.; Deshpande, Charu; Pyle, Angela; Rauch, Anita; Synofzik, Matthis; Alkuraya, Fowzan S.; Rivier, Francois; Ryten, Mina; McFarland, Robert; Delahodde, Agnes; McWilliams, Thomas G.; Koenig, Michel; Taylor, Robert W. (2021)
  • Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease
    Traschutz, Andreas; Cortese, Andrea; Reich, Selina; Dominik, Natalia; Faber, Jennifer; Jacobi, Heike; Hartmann, Annette M.; Rujescu, Dan; Montaut, Solveig; Echaniz-Laguna, Andoni; Erer, Sevda; Schutz, Valerie Cornelia; Tarnutzer, Alexander A.; Sturm, Marc; Haack, Tobias B.; Vaucamps-Diedhiou, Nadege; Puccio, Helene; Schols, Ludger; Klockgether, Thomas; van de Warrenburg, Bart P.; Paucar, Martin; Timmann, Dagmar; Hilgers, Ralf-Dieter; Gazulla, Jose; Strupp, Michael; Moris, German; Filla, Alessandro; Houlden, Henry; Anheim, Mathieu; Infante, Jon; Basak, A. Nazli; Synofzik, Matthis (2021)
  • Prominent Oncogenic Roles of EVI1 in Breast Carcinoma
    Wang, Hui; Schaefer, Thorsten; Konantz, Martina; Braun, Martin; Varga, Zsuzsanna; Paczulla, Anna M.; Reich, Selina; Jacob, Francis; Perner, Sven; Moch, Holger; Fehm, Tanja N.; Kanz, Lothar; Schulze-Osthoff, Klaus; Lengerke, Claudia (2017)
  • Repeat expansions nested within tandem CNVs: a unique structural change in GLS exemplifies the diagnostic challenges of non-coding pathogenic variation
    Fazal, Sarah; Danzi, Matt C.; van Kuilenburg, Andre B. P.; Reich, Selina; Traschutz, Andreas; Bender, Benjamin; Leen, Rene; Toro, Camilo; Usdin, Karen; Hayward, Bruce; Adams, David R.; van Karnebeek, Clara D. M.; Ferreira, Carlos R.; D'Sousa, Precilla; Tekin, Mustafa; Zuchner, Stephan; Synofzik, Matthis (2023)
  • SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family
    Roeben, Benjamin; Schuele, Rebecca; Ruf, Susanne; Bender, Benjamin; Alhaddad, Bader; Benkert, Tanja; Meitinger, Thomas; Reich, Selina; Boehringer, Judith; Langhans, Claus-Dieter; Vaz, Frederic M.; Wortmann, Saskia B.; Marquardt, Thorsten; Haack, Tobias B.; Kraegeloh-Mann, Ingeborg; Schoels, Ludger; Synofzik, Matthis (2018)
  • Stratifying the Presymptomatic Phase of Genetic Frontotemporal Dementia by Serum NfL and pNfH: A Longitudinal Multicentre Study
    Wilke, Carlo; Reich, Selina; van Swieten, John C.; Borroni, Barbara; Sanchez-Valle, Raquel; Moreno, Fermin; Laforce, Robert; Graff, Caroline; Galimberti, Daniela; Rowe, James B.; Masellis, Mario; Tartaglia, Maria C.; Finger, Elizabeth; Vandenberghe, Rik; de Mendonca, Alexandre; Tagliavini, Fabrizio; Santana, Isabel; Ducharme, Simon; Butler, Chris R.; Gerhard, Alexander; Levin, Johannes; Danek, Adrian; Otto, Markus; Frisoni, Giovanni; Ghidoni, Roberta; Sorbi, Sandro; Bocchetta, Martina; Todd, Emily; Kuhle, Jens; Barro, Christian; Rohrer, Jonathan D.; Synofzik, Matthis (2022)
  • STUB1/CHIP mutations cause Gordon Holmes syndrome as part of a widespread multisystemic neurodegeneration: evidence from four novel mutations
    Hayer, Stefanie Nicole; Deconinck, Tine; Bender, Benjamin; Smets, Katrien; Zuechner, Stephan; Reich, Selina; Schoels, Ludger; Schuele, Rebecca; De Jonghe, Peter; Baets, Jonathan; Synofzik, Matthis (2017)
  • The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias
    Traschuetz, Andreas; Reich, Selina; Adarmes, Astrid D.; Anheim, Mathieu; Ashrafi, Mahmoud Reza; Baets, Jonathan; Basak, A. Nazli; Bertini, Enrico; Brais, Bernard; Gagnon, Cynthia; Gburek-Augustat, Janina; Hanagasi, Hasmet A.; Heinzmann, Anna; Horvath, Rita; de Jonghe, Peter; Kamm, Christoph; Klivenyi, Peter; Klopstock, Thomas; Minnerop, Martina; Muenchau, Alexander; Renaud, Mathilde; Roxburgh, Richard H.; Santorelli, Filippo M.; Schirinzi, Tommaso; Sival, Deborah A.; Timmann, Dagmar; Vielhaber, Stefan; Wallner, Michael; van de Warrenburg, Bart P.; Zanni, Ginevra; Zuchner, Stephan; Klockgether, Thomas; Schuele, Rebecca; Schols, Ludger; Synofzik, Matthis (2021)
  • Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia
    Fard, Mohammad Ali Farazi; Rebelo, Adriana P.; Buglo, Elena; Nemati, Hamid; Dastsooz, Hassan; Gehweiler, Ina; Reich, Selina; Reichbauer, Jennifer; Quintans, Beatriz; Ordonez-Ugalde, Andres; Cortese, Andrea; Courel, Steve; Abreu, Lisa; Powell, Eric; Danzi, Matt; Martuscelli, Nicole B.; Bis-Brewer, Dana M.; Tao, Feifei; Zarei, Fariba; Habibzadeh, Parham; Yavarian, Majid; Modarresi, Farzaneh; Silawi, Mohammad; Tabatabaei, Zahra; Yousefi, Masoume; Farpour, Hamid Reza; Kessler, Christoph; Mangold, Elisabeth; Kobeleva, Xenia; Mueller, Amelie J.; Haack, Tobias B.; Tarnopolsky, Mark; Gan-Or, Ziv; Rouleau, Guy A.; Synofzik, Matthis; Sobrido, Maria-Jesus; Jordanova, Albena; Schule, Rebecca; Zuchner, Stephan; Faghihi, Mohammad Ali (2019)