Michael Freilinger
Medical University of Vienna
38 Papers
117 Citations
Michael Freilinger is an academic researcher from Medical University of Vienna. The author has contributed to research in topics: Rett syndrome & Medicine. The author has an hindex of 20, co-authored 35 publications. Previous affiliations of Michael Freilinger include University of Vienna.
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Papers
Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene†
Barbara Plecko,K Paul,Eduard Paschke,Sylvia Stoeckler-Ipsiroglu,Eduard A. Struys,Cornelis Jakobs,Hans Hartmann,Thomas Luecke,Matteo Di Capua,Christoph Korenke,Christiane Hikel,Elke Reutershahn,Michael Freilinger,Fritz A.M. Baumeister,Friedrich Bosch,Wolfgang Erwa +15 more
TL;DR: Administration of pyridoxine in PDE may not only correct secondary PLP deficiency, but may also lead to a reduction of AASA (and P6C) as presumably toxic compounds.
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Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome
Susanne Roosing,Matan Hofree,Sehyun Kim,Eric Scott,Brett Copeland,Marta Romani,Jennifer L. Silhavy,Rasim Ozgur Rosti,Jana Schroth,Tommaso Mazza,Elide Miccinilli,Maha S. Zaki,Kathryn J. Swoboda,Joanne Milisa-Drautz,William B. Dobyns,Mohamed A Mikati,Faruk Incecik,Matloob Azam,Renato Borgatti,Romina Romaniello,Rose-Mary Boustany,Carol L. Clericuzio,Stefano D'Arrigo,Petter Strømme,Petter Strømme,Eugen Boltshauser,Franco Stanzial,M. Mirabelli-Badenier,Isabella Moroni,Enrico Bertini,Francesco Emma,Maja Steinlin,Friedhelm Hildebrandt,Colin A. Johnson,Michael Freilinger,Keith K. Vaux,Stacey Gabriel,Pedro Aza-Blanc,Susanne Heynen-Genel,Trey Ideker,Brian David Dynlacht,Ji Eun Lee,Enza Maria Valente,Joon Kim,Joseph G. Gleeson +44 more
TL;DR: A high-content genome-wide small interfering RNA screen to identify genes regulating ciliogenesis as candidates for Joubert syndrome found six families with predominantly compound heterozygous mutations in KIAA0586, an orthologue of chick Talpid3, required for ciliogenic and Sonic hedgehog signaling.
Clinical guidelines for management of bone health in Rett syndrome based on expert consensus and available evidence
Amanda Jefferson,Helen Leonard,Aris Siafarikas,Helen J Woodhead,Sue Fyfe,Leanne M Ward,Leanne M Ward,Craig F Munns,Kathleen J. Motil,Kathleen J. Motil,Daniel C. Tarquinio,Jay R. Shapiro,Torkel B. Brismar,Bruria Ben-Zeev,Anne Marie Bisgaard,Giangennaro Coppola,Carolyn Ellaway,Carolyn Ellaway,Michael Freilinger,Suzanne Geerts,Peter Humphreys,Mary Jones,Jane B. Lane,Gunilla Larsson,Meir Lotan,Alan K. Percy,Mercedes Pineda,Mercedes Pineda,Steven A. Skinner,Birgit Syhler,Sue Thompson,Batia Weiss,Batia Weiss,Ingegerd Witt Engerström,Jenny Downs,Jenny Downs +35 more
TL;DR: These evidence and consensus-based guidelines have the potential to improve bone health in those with Rett syndrome, reduce the frequency of fractures, and stimulate further research that aims to ameliorate the impacts of this serious comorbidity.
Long-term outcome and tolerability of the ketogenic diet in drug-resistant childhood epilepsy--the Austrian experience.
Anastasia Dressler,Benjamin Stöcklin,Eva Reithofer,Franz Benninger,Michael Freilinger,E. Hauser,Edith Reiter-Fink,Rainer Seidl,Petra Trimmel-Schwahofer,Martha Feucht +9 more
TL;DR: Good long-term effects of the ketogenic diet on seizure frequency, EEG and neurological development are found, despite the retrospective nature of the study and the inhomogeneous patient sample.
96
Self-Concept in Male and Female Adolescents with Congenital Heart Disease
Ulrike Salzer-Muhar,Marion Herle,Peter Floquet,Michael Freilinger,Susanne Greber-Platzer,Alfons Haller,Werner Leixnering,Manfred Marx,Elisabeth Wurst,Michael Schlemmer +9 more
TL;DR: The CHD group showed a lower speed of cognitive processing but seemed to have less state-anxiety and to possess a higher superego strength, while female adolescents with CHD presented with a reduced perceived capacity and self-esteem.
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