Browsing Universitätsbibliographie by Author "Gburek-Augustat, Janina"

Now showing items 1-9 of 9

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)
Comparative Analysis of Cerebral Magnetic Resonance Imaging Changes in Nontreated Infantile, Juvenile and Adult Patients with Niemann-Pick Disease Type C

Gburek-Augustat, Janina; Groeschel, Samuel; Kern, Jan; Beck-Woedl, Stefanie; Just, Jennifer; Harzer, Klaus; Stampfer, Miriam; Kraegeloh-Mann, Ingeborg (2020)
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)
Epilepsy is not a mandatory feature of STXBP1 associated ataxia-tremor-retardation syndrome

Gburek-Augustat, Janina; Beck-Woedl, Stefanie; Tzschach, Andreas; Bauer, Peter; Schoening, Martin; Riess, Angelika (2016)
Intravenous levetiracetam in clinical practice - Results from an independent registry

Lang, N.; Esser, W.; Evers, S.; Kellinghaus, C.; Nguento, A.; Schlegel, U.; Gaida, B.; Gburek-Augustat, J.; Altenmueller, D. M.; Burghaus, L.; Hoffmann, F.; Fiedler, B.; Bast, T.; Rehfeld, T.; Happe, S.; Seitz, R. J.; Boor, R.; Stephani, U. (2015)
Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism

Daoud, Hussein; Tetreault, Martine; Gibson, William; Guerrero, Kether; Cohen, Ana; Gburek-Augustat, Janina; Synofzik, Matthis; Brais, Bernard; Stevens, Cathy A.; Sanchez-Carpintero, Rocio; Goizet, Cyril; Naidu, Sakkubai; Vanderver, Adeline; Bernard, Genevieve (2013)
Oligoclonal bands predict multiple sclerosis in children with optic neuritis

Heussinger, Nicole; Kontopantelis, Evangelos; Gburek-Augustat, Janina; Jenke, Andreas; Vollrath, Gesa; Korinthenberg, Rudolf; Hofstetter, Peter; Meyer, Sascha; Brecht, Isabel; Kornek, Barbara; Herkenrath, Peter; Schimmel, Mareike; Wenner, Kirsten; Haeusler, Martin; Lutz, Soeren; Karenfort, Michael; Blaschek, Astrid; Smitka, Martin; Karch, Stephanie; Piepkorn, Martin; Rostasy, Kevin; Luecke, Thomas; Weber, Peter; Trollmann, Regina; Klepper, Joerg; Haeussler, Martin; Hofmann, Regina; Weissert, Robert; Merkenschlager, Andreas; Buttmann, Mathias (2015)
Phenotype and frequency of STUB1 mutations: next-generation screenings in Caucasian ataxia and spastic paraplegia cohorts

Synofzik, Matthis; Schuele, Rebecca; Schulze, Martin; Gburek-Augustat, Janina; Schweizer, Roland; Schirmacher, Anja; Kraegeloh-Mann, Ingeborg; Gonzalez, Michael; Young, Peter; Zuechner, Stephan; Schoels, Ludger; Bauer, Peter (2014)
Pitfalls in Genetic Diagnostics: Why Phenotyping is Essential

Gburek-Augustat, Janina; Schoene-Bake, Jan-Christoph; Bueltmann, Eva; Haack, Tobias; Buchert, Rebecca; Synofzik, Matthis; Biskup, Saskia; Feuerhake, Friedrich; Sorge, Ina; Hartmann, Hans (2021)

Now showing items 1-9 of 9

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