De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy
Tran Mau-Them, F., Guibaud, L., Duplomb, L., Keren, B., Lindstrom, K., Marey, I., Mochel, F., van den Boogaard, M. J., Oegema, R., Nava, C., Masurel, A., Jouan, T., Jansen, F. E., Au, M., Chen, Agnes H., Cho, M., Duffourd, Y., Lozier, E., Konovalov, F., Sharkov, A., Korostelev, S., Urteaga, B., Dickson, P., Vera, M., Martínez-Agosto, Julián A., Begemann, A., Zweier, M., Schmitt-Mechelke, T., Rauch, A., Philippe, C., van Gassen, K., Nelson, S., Graham, J. M., Friedman, J., Faivre, L., Lin, H. J., Thauvin-Robinet, C., Vitobello, A.
Published in Genetics in medicine (01.04.2019)
Published in Genetics in medicine (01.04.2019)
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Journal Article
Quality of life after paediatric ischaemic stroke
Kornfeld, Salome, Studer, Martina, Winkelbeiner, Stephanie, Regényi, Mária, Boltshauser, Eugen, Steinlin, Maja, Mori, A Capone, Datta, A, Fluss, J, Hackenberg, A, Keller, E, Maier, O, Marcoz, J‐P, Poloni, C, Ramelli, G‐P, Schmid, R, Schmitt‐Mechelke, T
Published in Developmental medicine and child neurology (01.01.2017)
Published in Developmental medicine and child neurology (01.01.2017)
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Journal Article
Prediction of ROP Treatment and Evaluation of Screening Criteria in VLBW Infants–a Population Based Analysis
Gerull, Roland, Brauer, Viviane, Bassler, Dirk, Laubscher, Bernard, Pfister, Riccardo E, Nelle, Mathias, Müller, Beatrice, Roth-Kleiner, Matthias, Gerth-Kahlert, Christina, Adams, Mark
Published in Pediatric research (01.11.2018)
Published in Pediatric research (01.11.2018)
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Journal Article
P11. Quality of Life after pediatric ischemic stroke: Five year follow-up of swiss children
Kornfeld, S, Winkelbeiner, S, Studer, M, Boltshauser, E, Capone Mori, A, Datta, A, Fluss, J, Mercati, D, Hackenberg, A, Keller, E, Maier, O, Marcoz, J.P, Ramelli, G.P, Poloni, C, Schmid, R, Schmitt-Mechelke, T, Wehrli, E, Heinks, T, Steinlin, M
Published in Clinical neurophysiology (01.10.2014)
Published in Clinical neurophysiology (01.10.2014)
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Journal Article
The first three years of the Swiss Neuropaediatric Stroke Registry (SNPSR): a population-based study of incidence, symptoms and risk factors
Steinlin, M, Pfister, I, Pavlovic, J, Everts, R, Boltshauser, E, Capone Mori, A, Gubser Mercati, D, Hänggeli, C-A, Keller, E, Luetschg, J, Marcoz, J, Ramelli, G-P, Roulet Perez, E, Schmitt-Mechelke, T, Weissert, M
Published in Neuropediatrics (01.04.2005)
Published in Neuropediatrics (01.04.2005)
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Journal Article
Leukoencephalopathy with ataxia, hypodontia, and hypomyelination
Wolf, N I, Harting, I, Boltshauser, E, Wiegand, G, Koch, M J, Schmitt-Mechelke, T, Martin, E, Zschocke, J, Uhlenberg, B, Hoffmann, G F, Weber, L, Ebinger, F, Rating, D
Published in Neurology (26.04.2005)
Published in Neurology (26.04.2005)
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Journal Article
Neuropsychological problems after paediatric stroke: two year follow-up of Swiss children
Pavlovic, J, Kaufmann, F, Boltshauser, E, Capone Mori, A, Gubser Mercati, D, Haenggeli, C-A, Keller, E, Lütschg, J, Marcoz, J-P, Ramelli, G-P, Roulet Perez, E, Schmitt-Mechelke, T, Weissert, M, Steinlin, M
Published in Neuropediatrics (01.02.2006)
Published in Neuropediatrics (01.02.2006)
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Journal Article
“Gourmand syndrome” in a child with pharmacoresistant epilepsy
Kurian, M, Schmitt-Mechelke, T, Korff, C, Delavelle, J, Landis, T, Seeck, M
Published in Epilepsy & behavior (01.08.2008)
Published in Epilepsy & behavior (01.08.2008)
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Journal Article
Dexamethasone in refractory seizures of premature infants
Boor, R, Schmitt-Mechelke, T, Stopfkuchen, H, Reitter, B
Published in Acta pædiatrica (Oslo) (01.01.1993)
Published in Acta pædiatrica (Oslo) (01.01.1993)
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Journal Article
Impact of sepsis on neurodevelopmental outcome in a Swiss National Cohort of extremely premature infants
Schlapbach, Luregn J, Aebischer, Maude, Adams, Mark, Natalucci, Giancarlo, Bonhoeffer, Jan, Latzin, Philipp, Nelle, Mathias, Bucher, Hans Ulrich, Latal, Beatrice
Published in Pediatrics (Evanston) (01.08.2011)
Published in Pediatrics (Evanston) (01.08.2011)
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Journal Article
Acquired reversible pediatric parkinsonism of unknown origin – a case series
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Conference Proceeding
Incidence of retinopathy of prematurity (ROP) and ROP treatment in Switzerland 2006–2015: a population-based analysis
Gerull, Roland, Brauer, Viviane, Bassler, Dirk, Laubscher, Bernard, Pfister, Riccardo E, Nelle, Mathias, Müller, Béatrice, Gerth-Kahlert, Christina, Adams, Mark
Published in Archives of disease in childhood. Fetal and neonatal edition (01.07.2018)
Published in Archives of disease in childhood. Fetal and neonatal edition (01.07.2018)
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Journal Article
Feasibility and Usefulness of Rapid 2 Channel EEG Monitoring for Acute CNS Disorders in the Pediatric Emergency Ward
Schmitt-Mechelke, T., Bachmann-Holzinger, I., Imahorn, P., Meier, S.
Published in Neuropediatrics (16.04.2015)
Published in Neuropediatrics (16.04.2015)
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Conference Proceeding
Old Drug, New Mutation in Neonatal Epileptic Encephalopathies
Jünemann, S., Steiner, B., Röthlisberger, B., Schmitt-Mechelke, T.
Published in Neuropediatrics (16.04.2015)
Published in Neuropediatrics (16.04.2015)
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Conference Proceeding
Health related quality of life and manual ability 5 years after neonatal ischemic stroke
Caspar-Teuscher, Miriam, Studer, Martina, Regényi, Maria, Steinlin, Maja, Grunt, Sebastian, Bigi, Sandra, Mori, Andrea Capone, Datta, Alexandre, Fluss, Joel, Hackenberg, Annette, Keller, Elmar, Maier, Oliver, Mercati, Danielle, Marcoz, Jean-Pierre, Poloni, Claudia, Ramelli, Gian-Paolo, Schmid, R., Schmitt-Mechelke, T.
Published in European journal of paediatric neurology (01.09.2019)
Published in European journal of paediatric neurology (01.09.2019)
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Journal Article
Two Cases of an Unusual Cause of Headache and Papilledema not to be Missed
Kruker, A. T., Bauder, F., Kaiser, D., Schmitt-Mechelke, T.
Published in Neuropediatrics (20.04.2016)
Published in Neuropediatrics (20.04.2016)
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Conference Proceeding