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Driedger, Jan Henje [Author]; Bast, Thomas [Author]; Janzarik, Wibke Gesine [Author]; Syrbe, Steffen [Author]The phenotypic spectrum of PRRT2-associated paroxysmal neurologic disorders in childhoodView onlineSchließen
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Published in: Biomedicines ; 8, 11 (2020), 456
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Syrbe, Steffen [Author]; Mütze, Ulrike [Author]; Hoffmann, Georg F. [Author]; Korenke, Christoph [Author]Delineating SPTAN1 associated phenotypes : from isolated epilepsy to encephalopathy with progressive brain atrophyView onlineClose
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Published in: Brain ; 140(2017), 9, Seite 2322-2336
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Schröter, Julian [Author]; Deininger, Luca [Author]; Lupse, Blaz [Author]; Richter, Petra [Author]; Syrbe, Steffen [Author]; Mikut, Ralf [Author]; Jung-Klawitter, Sabine [Author]A large and diverse brain organoid dataset of 1,400 cross-laboratory images of 64 trackable brain organoidsView onlineSchließen
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Published in: Scientific Data, 11 (1), 514 ; ISSN: 2052-4463
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Schröter, Julian [Author]; Driedger, Jan Henje [Author]; Garbade, Sven [Author]; Hoffmann, Georg F. [Author]; Kölker, Stefan [Author]; Ries, Markus [Author]; Syrbe, Steffen [Author]Cross-sectional quantitative analysis of the natural history of TUBA1A and TUBB2B tubulinopathiesView onlineSchließen
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Published in: Genetics in medicine ; 23(2021), 3, Seite 516-523
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Schröter, Julian [Author]; Syring, Hanna [Author]; Göhring, Gudrun [Author]; Kölker, Stefan [Author]; Opladen, Thomas [Author]; Hoffmann, Georg F. [Author]; Syrbe, Steffen [Author]; Jung-Klawitter, Sabine [Author]Generation of an induced pluripotent stem cell line (DHMCi008-A) from an individual with TUBA1A tubulinopathyView onlineSchließen
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Published in: Stem cell research ; 62(2022), Artikel-ID 102818, Seite 1-4
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Mütze, Ulrike [Author]; Bürger, Friederike [Author]; Hoffmann, Jessica [Author]; Tegetmeyer, Helmut [Author]; Heichel, Jens [Author]; Nickel, Petra [Author]; Lemke, Johannes [Author]; Syrbe, Steffen [Author]; Beblo, Skadi [Author]Multigene panel next generation sequencing in a patient with cherry red macular spot : Identification of two novel mutations in NEU1 gene causing sialidosis type I associated with mild to unspecific biochemical and enzymatic findingsView onlineClose
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Published in: Molecular genetics and metabolism reports ; 10(2017), Seite 1-4
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Mütze, Ulrike [Author]; Bürger, Friederike [Author]; Hoffmann, Jessica [Author]; Tegetmeyer, Helmut [Author]; Heichel, Jens [Author]; Nickel, Petra [Author]; Lemke, Johannes [Author]; Syrbe, Steffen [Author]; Beblo, Skadi [Author]Multigene panel next generation sequencing in a patient with cherry red macular spot : identification of two novelmutations in NEU1 gene causing sialidosis type I associated with mild to unspecific biochemical and enzymatic findingsView onlineClose
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Published in: Molecular genetics and metabolism reports ; 10(2017), 1-4
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Hofmann, Christoph [Author]; Syrbe, Steffen [Author]; Hebe, Joachim [Author]; Kreft, Jannis [Author]; Stark, Sebastian [Author]; Milde, Till [Author]; Völkers, Mirko [Author]; Hoffmann, Georg F. [Author]; Gorenflo, Matthias [Author]; Kovacevic, Alexander [Author]Long-term use of everolimus for refractory arrhythmia in a child with tuberous sclerosis complexView onlineSchließen
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Published in: American journal of medical genetics ; 194(2024), 5, Artikel-ID e63508, Seite 1-6
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Petrik, Stephan [Author]; San Antonio-Arce, Victoria [Author]; Steinhoff, Bernhard J. [Author]; Syrbe, Steffen [Author]; Bast, Thomas [Author]; Scheiwe, Christian [Author]; Brandt, Armin [Author]; Beck, Jürgen [Author]; Schulze-Bonhage, Andreas [Author]Epilepsy surgery: late seizure recurrence after initial complete seizure freedomView onlineSchließen
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Published in: Epilepsia ; 62, 5 (2021), 1092-1104
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Brennenstuhl, Heiko [Author]; Kohlmüller, Dirk [Author]; Gramer, Gwendolyn [Author]; Garbade, Sven [Author]; Syrbe, Steffen [Author]; Feyh, Patrik [Author]; Kölker, Stefan [Author]; Okun, Jürgen G. [Author]; Hoffmann, Georg F. [Author]; Opladen, Thomas [Author]High throughput newborn screening for aromatic ʟ-amino-acid decarboxylase deficiency by analysis of concentrations of 3-O-methyldopa from dried blood spotsView onlineSchließen
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Published in: Journal of inherited metabolic disease ; 43(2020), 3, Seite 602-610
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Saffari, Afshin [Author]; Brösse, Ines [Author]; Tilburg, Cornelis M. van [Author]; Hoffmann, Georg F. [Author]; Kölker, Stefan [Author]; Witt, Olaf [Author]; Milde, Till [Author]; Ziegler, Andreas [Author]; Syrbe, Steffen [Author]Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age : a multicenter retrospective studyView onlineClose
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You can manage bookmarks using lists, please log in to your user account for this.London: BioMed Central, 2019 ; Heidelberg: Universitätsbibliothek Heidelberg, 2019
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Saffari, Afshin [Author]; Brösse, Ines [Author]; Tilburg, Cornelis M. van [Author]; Hoffmann, Georg F. [Author]; Kölker, Stefan [Author]; Witt, Olaf [Author]; Milde, Till [Author]; Ziegler, Andreas [Author]; Syrbe, Steffen [Author]Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age - a multicenter retrospective studyView onlineSchließen
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Published in: Orphanet journal of rare diseases ; 14(2019), Artikel-ID 96, Seite 1-13
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Semino, Francesca [Author]; Schröter, Julian [Author]; Willemsen, Marjolein H. [Author]; Bast, Thomas [Author]; Biskup, Saskia [Author]; Beck-Woedl, Stefanie [Author]; Brennenstuhl, Heiko [Author]; Schaaf, Christian P. [Author]; Kölker, Stefan [Author]; Hoffmann, Georg F. [Author]; Haack, Tobias B. [Author]; Syrbe, Steffen [Author]Further evidence for de novo variants in SYNCRIP as the cause of a neurodevelopmental disorderView onlineSchließen
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Published in: Human mutation ; 42(2021), 9, Seite 1094-1100
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Schröter, Julian [Author]; Popp, Bernt [Author]; Brennenstuhl, Heiko [Author]; Driedger, Jan Henje [Author]; Jestaedt, Leonie [Author]; Arélin, Maria [Author]; Gräfe, Daniel [Author]; Neuser, Sonja Anna [Author]; Parker, Michael [Author]; Lemke, Johannes [Author]; Hoffmann, Georg F. [Author]; Kölker, Stefan [Author]; Harting, Inga [Author]; Syrbe, Steffen [Author]Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsiesView onlineSchließen
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Published in: European journal of human genetics ; 30(2022), 3, Seite 298-306
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Bayat, Allan [Author]; Pendziwiat, Manuela [Author]; Obersztyn, Ewa [Author]; Goldenberg, Paula [Author]; Zacher, Pia [Author]; Driedger, Jan Henje [Author]; Syrbe, Steffen [Author]; Begtrup, Amber [Author]; Borovikov, Artem [Author]; Sharkov, Artem [Author]; Karasińska, Aneta [Author]; Giżewska, Maria [Author]; Mitchell, Wendy [Author]; Morava-Kozicz, Eva [Author]; Møller, Rikke S. [Author]; Rubboli, Guido [Author]Deep-Phenotyping the Less Severe Spectrum of PIGT Deficiency and Linking the Gene to Myoclonic Atonic SeizuresView onlineSchließen
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Published in: Frontiers in Genetics ; 12 (2021), 663643
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Driedger, Jan Henje [Author]; Schröter, Julian [Author]; Jüngling, Jerome [Author]; Biskup, Saskia [Author]; Klotz, Kerstin A. [Author]; Bast, Thomas [Author]; Dietel, Tobias [Author]; Korenke, Christoph [Author]; Christoph, Sophie [Author]; Brennenstuhl, Heiko [Author]; Rubboli, Guido [Author]; Møller, Rikke S. [Author]; Lesca, Gaetan [Author]; Chaix, Yves [Author]; Kölker, Stefan [Author]; Hoffmann, Georg F. [Author]; Lemke, Johannes [Author]; Syrbe, Steffen [Author]Refining genotypes and phenotypes in KCNA2-related neurological disordersView onlineSchließen
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Published in: International journal of molecular sciences ; 22(2021), 6, Artikel-ID 2824, Seite 1-16
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Döring, Jan H. [Author]; Schröter, Julian [Author]; Jüngling, Jerome [Author]; Biskup, Saskia [Author]; Klotz, Kerstin A. [Author]; Bast, Thomas [Author]; Dietel, Tobias [Author]; Korenke, G. Christoph [Author]; Christoph, Sophie [Author]; Brennenstuhl, Heiko [Author]; Rubboli, Guido [Author]; Moller, Rikke S. [Author]; Lesca, Gaetan [Author]; Chaix, Yves [Author]; Kölker, Stefan [Author]; Hoffmann, Georg F. [Author]; Lemke, Johannes R. [Author]; Syrbe, Steffen [Author]Refining Genotypes and Phenotypes in KCNA2-Related Neurological DisordersView onlineClose
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Published in: International Journal of Molecular Sciences ; 22, (2021)
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Xian, Julie [Author]; Thalwitzer, Kim M. [Author]; McKee, Jillian [Author]; Sullivan, Katie Rose [Author]; Brimble, Elise [Author]; Fitch, Eryn [Author]; Toib, Jonathan [Author]; Kaufman, Michael C [Author]; deCampo, Danielle [Author]; Cunningham, Kristin [Author]; Pierce, Samuel R [Author]; Goss, James [Author]; Rigby, Charlene Son [Author]; Syrbe, Steffen [Author]; Boland, Mike [Author]; Prosser, Benjamin [Author]; Fitter, Nasha [Author]; Ruggiero, Sarah M [Author]; Helbig, Ingo [Author]Delineating clinical and developmental outcomes in STXBP1-related disordersView onlineSchließen
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Published in: Brain ; 146(2023), 12 vom: Dez., Seite 5182-5197
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Maltseva, Margarita [Author]; Schubert-Bast, Susanne [Author]; Zöllner, Johann Philipp [Author]; Bast, Thomas [Author]; Mayer, Thomas [Author]; von Spiczak, Sarah [Author]; Ruf, Susanne [Author]; Trollmann, Regina [Author]; Wolff, Markus [Author]; Hornemann, Frauke [Author]; Klotz, Kerstin A. [Author]; Jacobs, Julia [Author]; Kurlemann, Gerhard [Author]; Neubauer, Bernd A. [Author]; Polster, Tilman [Author]; Syrbe, Steffen [Author]; Bertsche, Astrid [Author]; Bettendorf, Ulrich [Author]; Kluger, Gerhard [Author]; Flege, Silke [Author]; Rosenow, Felix [Author]; Kay, Lara [Author]; Strzelczyk, Adam [Author]Sleep quality, anxiety, symptoms of depression, and caregiver burden among those caring for patients with Dravet syndrome : a prospective multicenter study in GermanyView onlineClose
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Published in: Orphanet journal of rare diseases ; 18(2023) vom: Apr., Artikel-ID 98, Seite 1-14
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Driedger, Jan Henje [Author]; Saffari, Afshin [Author]; Bast, Thomas [Author]; Brockmann, Knut [Author]; Ehrhardt, Laura [Author]; Fazeli, Walid [Author]; Janzarik, Wibke G. [Author]; Klabunde-Cherwon, Annick [Author]; Kluger, Gerhard [Author]; Muhle, Hiltrud [Author]; Pendziwiat, Manuela [Author]; Møller, Rikke S. [Author]; Platzer, Konrad [Author]; Santos, Joana Larupa [Author]; Schröter, Julian [Author]; Hoffmann, Georg F. [Author]; Kölker, Stefan [Author]; Syrbe, Steffen [Author]Efficacy, tolerability, and retention of antiseizure medications in PRRT2-associated infantile epilepsyView onlineSchließen
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Published in: Neurology. Genetics ; 8(2022), 5 vom: Okt., Seite 1-11