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Number of items: 18.

Vuilleumier, Pascal Henri; Fritsche, Raphael; Schliessbach, Jürg; Schmitt, Bernhard; Arendt-Nielsen, Lars; Zeilhofer, Hanns Ulrich; Curatolo, Michele (2018). Mutations affecting glycinergic neurotransmission in hyperekplexia increase pain sensitivity. Brain : a journal of neurology, 141(1):63-71.

Bölsterli Heinzle, Bigna Katrin; Bast, Thomas; Critelli, Hanne; Huber, Reto; Schmitt, Bernhard (2017). Erratum: Age-Dependency of Location of Epileptic Foci in "Continuous Spike-and-Waves during Sleep": A Parallel to the Posterior-Anterior Trajectory of Slow Wave Activity. Neuropediatrics, 48(5):401.

Plecko, Barbara; Zweier, Markus; Begemann, Anaïs; Mathis, Deborah; Schmitt, Bernhard; Striano, Pasquale; Baethmann, Martina; Vari, Maria Stella; Beccaria, Francesca; Zara, Federico; Crowther, Lisa M; Joset, Pascal; Sticht, Heinrich; Papuc, Sorina Mihaela; Rauch, Anita (2017). Confirmation of mutations in PROSC as a novel cause of vitamin B6 -dependent epilepsy. Journal of Medical Genetics, 54(12):809-814.

O'Callaghan, Finbar J K; Edwards, Stuart W; Alber, Fabienne Dietrich; Hancock, Eleanor; Johnson, Anthony L; Kennedy, Colin R; Likeman, Marcus; Lux, Andrew L; Mackay, Mark; Mallick, Andrew A; Newton, Richard W; Nolan, Melinda; Pressler, Ronit; Rating, Dietz; Schmitt, Bernhard; Verity, Christopher M; Osborne, John P (2017). Safety and effectiveness of hormonal treatment versus hormonal treatment with vigabatrin for infantile spasms (ICISS): a randomised, multicentre, open-label trial. Lancet Neurology, 16(1):33-42.

Heinzle, Bigna Katrin Bölsterli; Bast, Thomas; Critelli, Hanne; Huber, Reto; Schmitt, Bernhard (2016). Age-Dependency of Location of Epileptic Foci in "Continuous Spike-and-Waves during Sleep": A Parallel to the Posterior-Anterior Trajectory of Slow Wave Activity. Neuropediatrics, 48(01):036-041.

Tibussek, Daniel; Klepper, Jörg; Korinthenberg, Rudolf; Kurlemann, Gerhard; Rating, Dietz; Wohlrab, Gabriele; Wolff, Markus; Schmitt, Bernhard (2016). Treatment of infantile spasms: report of the interdisciplinary guideline committee coordinated by the german-speaking Society for Neuropediatrics. Neuropediatrics, 47(3):139-150.

Schmitt, Bernhard (2016). BNS-Epilepsie und West-Syndrom. Epileptologie, 33(2):112-116.

Abela, Lucia; Simmons, Luke; Steindl, Katharina; Schmitt, Bernhard; Mastrangelo, Massimo; Joset, Pascal; Papuc, Mihaela; Sticht, Heinrich; Baumer, Alessandra; Crowther, Lisa M; Mathis, Déborah; Rauch, Anita; Plecko, Barbara (2016). N(8)-acetylspermidine as a potential plasma biomarker for Snyder-Robinson syndrome identified by clinical metabolomics. Journal of Inherited Metabolic Disease, 39(1):131-137.

Schmitt, Bernhard (2015). Sleep and epilepsy syndromes. Neuropediatrics, 46(3):171-180.

Fattinger, Sara; Schmitt, Bernhard; Bölsterli Heinzle, Bigna K; Critelli, Hanne; Jenni, Oskar G; Huber, Reto (2015). Impaired slow wave sleep downscaling in patients with infantile spasms. European Journal of Paediatric Neurology, 19(2):134-142.

Schmitt, Bernhard (2014). Corpus callosum alterations in pyridoxine-dependent epilepsy: a mirror image of an ongoing disease? Developmental Medicine and Child Neurology, 56(11):1039-1040.

Sudarsanam, Annapurna; Singh, Harry; Wilcken, Bridget; Stormon, Michael; Arbuckle, Susan; Schmitt, Bernhard; Clayton, Peter; Earl, John; Webster, Richard (2014). Cirrhosis associated with pyridoxal 5'-phosphate treatment of pyridoxamine 5'-phosphate oxidase deficiency. In: Zschocke, Johannes; Gibson, K Michael; Brown, Garry; Morava, Eva; Peters, Verena. JIMD Reports. Berlin Heidelberg: Springer, 67-70.

Hackenberg, Annette; Baumer, Alessandra; Sticht, Heinrich; Schmitt, Bernhard; Kroell-Seger, Judith; Wille, David; Joset, Pascal; Papuc, Sorina; Rauch, Anita; Plecko, Barbara (2014). Infantile epileptic encephalopathy, transient choreoathetotic movements, and hypersomnia due to a De Novo missense mutation in the SCN2A gene. Neuropediatrics, 45(4):261-264.

Bölsterli Heinzle, Bigna K; Fattinger, Sara; Kurth, Salomé; Lebourgeois, Monique K; Ringli, Maya; Bast, Thomas; Critelli, Hanne; Schmitt, Bernhard; Huber, Reto (2014). Spike wave location and density disturb sleep slow waves in patients with CSWS (continuous spike waves during sleep). Epilepsia, 55(4):584-591.

Toelle, Sandra P; Wille, David; Schmitt, Bernhard; Scheer, Ianina; Thöny, Beat; Plecko, Barbara (2014). Sensory stimulus-sensitive drop attacks and basal ganglia calcification: New findings in a patient with FOLR1 deficiency. Epileptic Disorders, 16(1):88-92.

Fattinger, Sara; Jenni, Oskar G; Schmitt, Bernhard; Achermann, Peter; Huber, Reto (2014). Overnight changes in the slope of sleep slow waves during infancy. Sleep, 37(2):245-53.

Haeberle, Johannes; Shahbeck, Noora; Ibrahim, Khalid; Schmitt, Bernhard; Scheer, Ianina; O'Gorman, Ruth; Chaudhry, Farrukh A; Ben-Omran, Tawfeg (2012). Glutamine supplementation in a child with inherited GS deficiency improves the clinical status and partially corrects the peripheral and central amino acid imbalance. Orphanet Journal of Rare Diseases, 7:48.

Wohlrab, Gabriele; et al; Hehr, Ute; Schmitt, Bernhard; Boltshauser, Eugen (2005). Familial West syndrome and dystonia caused by an Aristaless related homeobox gene mutation. European Journal of Pediatrics, 164(5):326-328.

This list was generated on Thu Nov 15 11:15:35 2018 CET.