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Number of items: 16.

Papuc, Sorina M; Abela, Lucia; Steindl, Katharina; Begemann, Anaïs; Simmons, Thomas L; Schmitt, Bernhard; Zweier, Markus; Oneda, Beatrice; Socher, Eileen; Crowther, Lisa M; Wohlrab, Gabriele; Gogoll, Laura; Poms, Martin; Seiler, Michelle; Papik, Michael; Baldinger, Rosa; Baumer, Alessandra; Asadollahi, Reza; Kroell-Seger, Judith; Schmid, Regula; Iff, Tobias; Schmitt-Mechelke, Thomas; Otten, Karoline; Hackenberg, Annette; Addor, Marie-Claude; Klein, Andrea; Azzarello-Burri, Silvia; Sticht, Heinrich; Joset, Pascal; Plecko, Barbara; Rauch, Anita (2019). The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study. European Journal of Human Genetics, 27(3):408-421.

Muñoz, M; Acheson, Austin G; Auerbach, M; Besser, M; Habler, O; Kehlet, H; Liumbruno, G M; Lasocki, S; Meybohm, P; Rao Baikady, R; Richards, T; Shander, A; So-Osman, C; Spahn, Donat R; Klein, Andrea (2017). International consensus statement on the peri-operative management of anaemia and iron deficiency. Anaesthesia, 72(2):233-247.

Abela, Lucia; Spiegel, Ronen; Crowther, Lisa M; Klein, Andrea; Steindl, Katharina; Papuc, Sorina Mihaela; Joset, Pascal; Zehavi, Yoav; Rauch, Anita; Plecko, Barbara; Simmons, Thomas Luke (2017). Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency. PLoS ONE, 12(5):e0176363.

Micalizzi, Alessia; Poretti, Andrea; Romani, Marta; Ginevrino, Monia; Mazza, Tommaso; Aiello, Chiara; Zanni, Ginevra; Baumgartner, Bastian; Borgatti, Renato; Brockmann, Knut; Camacho, Ana; Cantalupo, Gaetano; Haeusler, Martin; Hikel, Christiane; Klein, Andrea; Mandrile, Giorgia; Mercuri, Eugenio; Rating, Dietz; Romaniello, Romina; Santorelli, Filippo Maria; Schimmel, Mareike; Spaccini, Luigina; Teber, Serap; von Moers, Arpad; Wente, Sarah; Ziegler, Andreas; Zonta, Andrea; Bertini, Enrico; Boltshauser, Eugen; Valente, Enza Maria (2016). Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome). European Journal of Human Genetics, 24(9):1262-1267.

Giarrana, Miriam L; Joset, Pascal; Sticht, Heinrich; Robb, Stephanie; Steindl, Katharina; Rauch, Anita; Klein, Andrea (2015). A severe congenital myasthenic syndrome with "dropped head" caused by novel MUSK mutations. Muscle & Nerve, 52(4):668-673.

Bonati, Ulrike; Hafner, Patricia; Schädelin, Sabine; Schmid, Maurice; Naduvilekoot Devasia, Arjith; Schroeder, Jonas; Zuesli, Stephanie; Pohlman, Urs; Neuhaus, Cornelia; Klein, Andrea; Sinnreich, Michael; Haas, Tanja; Gloor, Monika; Bieri, Oliver; Fischmann, Arne; Fischer, Dirk (2015). Quantitative muscle MRI: A powerful surrogate outcome measure in Duchenne muscular dystrophy. Neuromuscular Disorders : NMD, 25(9):679-685.

Klein, Andrea; Robb, Stephanie; Rushing, Elisabeth; Liu, Wei-Wei; Belaya, Kasiaryna; Beeson, David (2015). Congenital Myasthenic Syndrome caused by mutations in DPAGT. Neuromuscular Disorders : NMD, 25(3):253-256.

Klein, Andrea. Congenital myopathies: a contemporary diagnostic approach. 2015, University of Zurich, Faculty of Medicine.

Rushing, Elisabeth; Kellenberger, Christian; Kana, Veronika; Klein, Andrea (2014). Muscle magnetic resonance imaging of the lower limbs: Valuable diagnostic tool in the investigation of childhood neuromuscular disorders. Neuropediatrics, 45(5):278-288.

Martin, Florence; Kana, Veronika; Mori, Andrea Capone; Fischer, Dirk; Parkin, Nicolas; Boltshauser, Eugen; Rushing, Elisabeth Jane; Klein, Andrea (2014). Neurofibromatosis type 1 (NF1) with an unusually severe phenotype due to digeny for NF1 and ryanodine receptor 1 associated myopathy. European Journal of Pediatrics, 173(12):1691-1694.

Klein, Andrea; Pitt, Matthew C; McHugh, John C; Niks, Erik H; Sewry, Caroline A; Phadke, Rahul; Feng, Lucy; Manzur, Adnan Y; Tirupathi, Sandya; Devile, Catherine; Jayawant, Sandeep; Finlayson, Sarah; Palace, Jacqueline; Muntoni, Francesco; Beeson, David; Robb, Stephanie A (2013). DOK7 congenital myasthenic syndrome in childhood: early diagnostic clues in 23 children. Neuromuscular Disorders : NMD, 23(11):883-891.

Fischmann, Arne; Hafner, Patricia; Gloor, Monika; Schmid, Maurice; Klein, Andrea; Pohlman, Urs; Waltz, Tanja; Gonzalez, Rocio; Haas, Tanja; Bieri, Oliver; Fischer, Dirk (2013). Quantitative MRI and loss of free ambulation in Duchenne muscular dystrophy. Journal of Neurology, 260(4):969-974.

Burke, Georgina; Hiscock, Andrew; Klein, Andrea; Niks, Erik H; Main, Marion; Manzur, Adnan Y; Ng, Joanne; de Vile, Catherine; Muntoni, Francesco; Beeson, David; Robb, Stephanie (2013). Salbutamol benefits children with congenital myasthenic syndrome due to DOK7 mutations. Neuromuscular Disorders : NMD, 23(2):170-175.

Klein, Andrea; Lillis, Suzanne; Munteanu, Iulia; Scoto, Mariacristina; Zhou, Haiyan; Quinlivan, Ros; Straub, Volker; Manzur, Adnan Y; Roper, Helen; Jeannet, Pierre-Yves; Rakowicz, Wojtek; Jones, David Hilton; Jensen, Uffe Birk; Wraige, Elizabeth; Trump, Natalie; Schara, Ulrike; Lochmuller, Hanns; Sarkozy, Anna; Kingston, Helen; Norwood, Fiona; Damian, Maxwell; Kirschner, Janbernd; Longman, Cheryl; Roberts, Mark; Auer-Grumbach, Michaela; Hughes, Imelda; Bushby, Kate; Sewry, Caroline; Robb, Stephanie; Abbs, Stephen; Jungbluth, Heinz; Muntoni, Francesco (2012). Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies. Human Mutation, 33(6):981-988.

Klein, Andrea; Schmitt, Bernhard; Boltshauser, Eugen (2007). Long-term outcome of ten children with opsoclonus-myoclonus syndrome. European Journal of Pediatrics, 166(4):359-363.

Klein, Andrea; Balmer, Bettina; Brehmer, Ulrike; Huisman, Thierry A G M; Boltshauser, Eugen (2006). Facial nerve palsy—an unusual complication after evacuation of a subdural haematoma or hygroma in children. Child's Nervous System, 22(6):562-566.

This list was generated on Thu Jun 20 09:05:38 2019 CEST.