Header

UZH-Logo

Maintenance Infos

Browse by Creators

Navigate back| Up a level
Export as
Number of items: 43.

Hackenberg, Annette; Boltshauser, Eugen; Gerth-Kahlert, Christina; Stahr, Nikolai; Azzarello-Burri, Silvia; Plecko, Barbara (2017). Horizontal gaze palsy in two brothers with compound heterozygous ROBO3 gene mutations. Neuropediatrics, 48(01):57-58.

Hamilton, Eline M C; Bertini, Enrico; Kalaydjieva, Luba; Morar, Bharti; Dojčáková, Dana; Liu, Judy; Vanderver, Adeline; Curiel, Julian; Persoon, Claudia M; Diodato, Daria; Pinelli, Lorenzo; van der Meij, Nathalie L; Plecko, Barbara; Blaser, Susan; Wolf, Nicole I; Waisfisz, Quinten; Abbink, Truus E M; van der Knaap, Marjo S; Recessive H-ABC Research Group (2017). UFM1 founder mutation in the Roma population causes recessive variant of H-ABC. Neurology, 89(17):1821-1828.

Winkler, Alice; Tölle, Sandra; Natalucci, Giancarlo; Plecko, Barbara; Wisser, Josef (2017). Prognostic features and long-term outcome in patients with isolated fetal ventriculomegaly. Fetal Diagnosis and Therapy:Epub ahead of print.

Skrabl-Baumgartner, Andrea; Plecko, Barbara; Schmidt, Wolfgang M; König, Nadja; Hershfield, Michael; Gruber-Sedlmayr, Ursula; Lee-Kirsch, Min Ae (2017). Autoimmune phenotype with type I interferon signature in two brothers with ADA2 deficiency carrying a novel CECR1 mutation. Pediatric Rheumatology, 15(1):67.

Haberlandt, E; Ensslen, M; Gruber-Sedlmayr, U; Plecko, Barbara; Brunner-Krainz, M; Schimmel, M; Schubert-Bast, S; Neirich, U; Philippi, H; Kurleman, G; Tardieu, M; Wohlrab, G; Borggraefe, I; Rostásy, K (2017). Epileptic phenotypes, electroclinical features and clinical characteristics in 17 children with anti-NMDAR encephalitis. European Journal of Paediatric Neurology, 21(3):457-464.

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.

Plecko, Barbara (2017). A message to the readers of neuropediatrics. Neuropediatrics, 48(1):1-2.

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.

Lauber, Matthias; Plecko, Barbara; Pfiffner, Miriam; Nuoffer, Jean-Marc; Häberle, Johannes (2017). The effect of S-adenosylmethionine on self-mutilation in a patient with Lesch-Nyhan disease. In: Morava, E; Baumgartner, M; Patterson, M; Rahman, S; Zschocke, J; Peters, V. JIMD Reports, Volume 32. Berlin, Heidelberg: Springer, 51-57.

Strzelczyk, Adam; Zschebek, Gerda; Bauer, Sebastian; Baumgartner, Christoph; Grond, Martin; Hermsen, Anke; Kieslich, Matthias; Krämer, Günter; Kurlemann, Gerhard; May, Theodor W; Mayer, Thomas; Neubauer, Bernd A; Pfäfflin, Margarete; Plecko, Barbara; Ryvlin, Philippe; Schubert-Bast, Susanne; Stefan, Hermann; Trinka, Eugen; Knake, Susanne; Seifart, Carola; Rosenow, Felix (2016). Predictors of and attitudes toward counseling about SUDEP and other epilepsy risk factors among Austrian, German, and Swiss neurologists and neuropediatricians. Epilepsia, 57(4):612-620.

Bartuzi, Paulina; Billadeau, Daniel D; Favier, Robert; Rong, Shunxing; Dekker, Daphne; Fedoseienko, Alina; Fieten, Hille; Wijers, Melinde; Levels, Johannes H; Huijkman, Nicolette; Kloosterhuis, Niels; van der Molen, Henk; Brufau, Gemma; Groen, Albert K; Elliott, Alison M; Kuivenhoven, Jan Albert; Plecko, Barbara; Grangl, Gernot; McGaughran, Julie; Horton, Jay D; Burstein, Ezra; Hofker, Marten H; van de Sluis, Bart (2016). CCC- and WASH-mediated endosomal sorting of LDLR is required for normal clearance of circulating LDL. Nature Communications, 7:10961.

Neubauer, Bernd; Plecko, Barbara; Boltshauser, Eugen (2016). A message to the readers of neuropediatrics. Neuropediatrics, 47(1):1-2.

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.

Mathis, Déborah; Abela, Lucia; Albersen, Monique; Bürer, Céline; Crowther, Lisa; Beese, Karin; Hartmann, Hans; Bok, Levinus A; Struys, Eduard; Papuc, Sorina M; Rauch, Anita; Hersberger, Martin; Verhoeven-Duif, Nanda M; Plecko, Barbara (2016). The value of plasma vitamin B6 profiles in early onset epileptic encephalopathies. Journal of Inherited Metabolic Disease, 39(5):733-741.

Plecko, Barbara; Abela, Lucia (2016). Vitamin B6-abhängige Epilepsien – ein Update. Epileptologie, 33(2):102-109.

Mefford, Heather C; Zemel, Matthew; Geraghty, Eileen; Cook, Joseph; Clayton, Peter T; Paul, Karl; Plecko, Barbara; Mills, Philippa B; Nordli, Douglas R; Gospe, Sidney M (2015). Intragenic deletions of ALDH7A1 in pyridoxine-dependent epilepsy caused by Alu-Alu recombination. Neurology, 85(9):756-762.

Campistol, Jaume; Plecko, Barbara (2015). Treatable newborn and infant seizures due to inborn errors of metabolism. Epileptic Disorders, 17(3):229-242.

Plecko, Barbara (2015). Honorary Award of the German-Speaking Child Neurology Society - Gesellschaft für Neuropädiatrie - 2015. Neuropediatrics, 46(4):233.

Kolanczyk, Mateusz; Krawitz, Peter; Hecht, Jochen; Hupalowska, Anna; Miaczynska, Marta; Marschner, Katrin; Schlack, Claire; Emmerich, Denise; Kobus, Karolina; Kornak, Uwe; Robinson, Peter N; Plecko, Barbara; Grangl, Gernot; Uhrig, Sabine; Mundlos, Stefan; Horn, Denise (2015). Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome. European Journal of Human Genetics, 23(5):720.

Vodopiutz, Julia; Schmook, Maria T; Konstantopoulou, Vassiliki; Plecko, Barbara; Greber-Platzer, Susanne; Creus, Marc; Seidl, Rainer; Janecke, Andreas R (2015). MED20 mutation associated with infantile basal ganglia degeneration and brain atrophy. European Journal of Pediatrics, 174(1):113-118.

Karall, Daniela; Brunner-Krainz, Michaela; Kogelnig, Katharina; Konstantopoulou, Vassiliki; Maier, Esther M; Möslinger, Dorothea; Plecko, Barbara; Sperl, Wolfgang; Volkmar, Barbara; Scholl-Bürgi, Sabine (2015). Clinical outcome, biochemical and therapeutic follow-up in 14 Austrian patients with Long-Chain 3-Hydroxy Acyl CoA Dehydrogenase Deficiency (LCHADD). Orphanet Journal of Rare Diseases, 10(21):online.

Ahting, Uwe; Mayr, Johannes A; Vanlander, Arnaud V; Hardy, Steven A; Santra, Saikat; Makowski, Christine; Alston, Charlotte L; Zimmermann, Franz A; Abela, Lucia; Plecko, Barbara; Rohrbach, Marianne; Spranger, Stephanie; Seneca, Sara; Rolinski, Boris; Hagendorff, Angela; Hempel, Maja; Sperl, Wolfgang; Meitinger, Thomas; Smet, Joél; Taylor, Robert W; Van Coster, Rudy; Freisinger, Peter; Prokisch, Holger; Haack, Tobias B (2015). Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency. Frontiers in Genetics:6:123.

van Karnebeek, Clara D M; Stockler-Ipsiroglu, Sylvia; Jaggumantri, Sravan; Assmann, Birgit; Baxter, Peter; Buhas, Daniela; Bok, Levinus A; Cheng, Barbara; Coughlin, Curtis R; Das, Anibh M; Giezen, Alette; Al-Hertani, Wahla; Ho, Gloria; Meyer, Uta; Mills, Philippa; Plecko, Barbara; Struys, Eduard; Ueda, Keiko; Albersen, Monique; Verhoeven, Nanda; Gospe, Sidney M; Gallagher, Renata C; Van Hove, Johan K L; Hartmann, Hans (2015). Lysine-restricted diet as adjunct therapy for pyridoxine-dependent epilepsy: The PDE consortium consensus recommendations. In: Zschocke, Johannes; Gibson, K Michael; Brown, Garry; Morava, Eva; Peters, Verena. JIMD Reports. Berlin Heidelberg: Springer, 47-57.

Plecko, Barbara; Abela, L; Maddalon, C (2015). Vitaminabhängige Stoffwechselstörungen. Schweizer Zeitschrift für Ernährungsmedizin (SZE):28-33.

Abela, Lucia; Plecko, Barbara; Palla, Antonella; Burda, Patricie; Nuoffer, Jean-Marc; Ballhausen, Diana; Rohrbach, Marianne (2014). Early co-occurrence of a neurologic-psychiatric disease pattern in Niemann-Pick type C disease: a retrospective Swiss cohort study. Orphanet Journal of Rare Diseases, 9:176.

Schwinger, Wolfgang; Sovinz, Petra; Benesch, Martin; Lackner, Herwig; Seidel, Markus; Strenger, Volker; Sperl, Daniela; Raicht, Andrea; Brunner-Krainz, Michaela; Paschke, Eduard; Plecko, Barbara; Urban, Christian (2014). Unrelated CD3/CD19-depleted peripheral stem cell transplantation for Hurler syndrome. Pediatric Hematology and Oncology, 31(8):723-730.

Asadollahi, Reza; Oneda, Beatrice; Joset, Pascal; Azzarello-Burri, Silvia; Bartholdi, Deborah; Steindl, Katharina; Vincent, Marie; Cobilanschi, Joana; Sticht, Heinrich; Baldinger, Rosa; Reissmann, Regina; Sudholt, Irene; Thiel, Christian T; Ekici, Arif B; Reis, André; Bijlsma, Emilia K; Andrieux, Joris; Dieux, Anne; FitzPatrick, David; Ritter, Susanne; Baumer, Alessandra; Latal, Beatrice; Plecko, Barbara; Jenni, Oskar G; Rauch, Anita (2014). The clinical significance of small copy number variants in neurodevelopmental disorders. Journal of Medical Genetics, 51(10):677-688.

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.

Dulac, Olivier; Plecko, Barbara; Gataullina, Svetlana; Wolf, Nicole I (2014). Occasional seizures, epilepsy, and inborn errors of metabolism. Lancet Neurology, 13(7):727-739.

Thorwarth, Anne; Schnittert-Hübener, Sarah; Schrumpf, Pamela; Müller, Ines; Jyrch, Sabine; Dame, Christof; Biebermann, Heike; Kleinau, Gunnar; Katchanov, Juri; Schuelke, Markus; Ebert, Grit; Steininger, Anne; Bönnemann, Carsten; Brockmann, Knut; Christen, Hans-Jürgen; Crock, Patricia; deZegher, Francis; Griese, Matthias; Hewitt, Jacqueline; Ivarsson, Sten; Hübner, Christoph; Kapelari, Klaus; Plecko, Barbara; Rating, Dietz; Stoeva, Iva; Ropers, Hans-Hilger; Grüters, Annette; Ullmann, Reinhard; Krude, Heiko (2014). Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum. Journal of Medical Genetics, 51(6):375-387.

Plecko, Barbara; Paul, Karl; Mills, Philippa; Clayton, Peter; Paschke, Eduard; Maier, Oliver; Hasselmann, Oswald; Schmiedel, Gudrun; Kanz, Simone; Connolly, Mary; Wolf, Nicole; Struys, Eduard; Stockler, Sylvia; Abela, Lucia; Hofer, Doris (2014). Pyridoxine responsiveness in novel mutations of the PNPO gene. Neurology, 82(16):1425-1433.

Plecko, Barbara (2014). Peter-Emil-Becker-Price 2013. Neuropediatrics, 45(2):69.

Haack, Tobias B; Gorza, Matteo; Danhauser, Katharina; Mayr, Johannes A; Haberberger, Birgit; Wieland, Thomas; Kremer, Laura; Strecker, Valentina; Graf, Elisabeth; Memari, Yasin; Ahting, Uwe; Kopajtich, Robert; Wortmann, Saskia B; Rodenburg, Richard J; Kotzaeridou, Urania; Hoffmann, Georg F; Sperl, Wolfgang; Wittig, Ilka; Wilichowski, Ekkehard; Schottmann, Gudrun; Schuelke, Markus; Plecko, Barbara; Stephani, Ulrich; Strom, Tim M; Meitinger, Thomas; Prokisch, Holger; Freisinger, Peter (2014). Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening. Molecular Genetics and Metabolism, 111(3):342-352.

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.

Porri, Stephanie; Fluss, Joel; Plecko, Barbara; Paschke, Eduard; Korff, Christian M; Kern, Ilse (2014). Positive outcome following early diagnosis and treatment of pyridoxal-5'-phosphate oxidase deficiency: a case report. Neuropediatrics, 45(1):64-68.

Rüegger, Corinne M; Lindner, Martin; Ballhausen, Diana; Baumgartner, Matthias R; Beblo, Skadi; Das, Anibh; Gautschi, Matthias; Glahn, Esther M; Grünert, Sarah C; Hennermann, Julia; Hochuli, Michel; Huemer, Martina; Karall, Daniela; Kölker, Stefan; Lachmann, Robin H; Lotz-Havla, Amelie; Möslinger, Dorothea; Nuoffer, Jean-Marc; Plecko, Barbara; Rutsch, Frank; Santer, René; Spiekerkoetter, Ute; Staufner, Christian; Stricker, Tamar; Wijburg, Frits A; Williams, Monique; Burgard, Peter; Häberle, Johannes (2014). Cross-sectional observational study of 208 patients with non-classical urea cycle disorders. Journal of Inherited Metabolic Disease, 37(1):21-30.

Mills, Philippa B; Camuzeaux, Stephane S M; Footitt, Emma J; Mills, Kevin A; Gissen, Paul; Fisher, Laura; Das, Krishna B; Varadkar, Sophia M; Zuberi, Sameer; McWilliam, Robert; Stödberg, Tommy; Plecko, Barbara; Baumgartner, Matthias R; Maier, Oliver; Calvert, Sophie; Riney, Kate; Wolf, Nicole I; Livingston, John H; Bala, Pronab; Morel, Chantal F; Feillet, François; Raimondi, Francesco; Del Giudice, Ennio; Chong, W Kling; Pitt, Matthew; Clayton, Peter T (2014). Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome. Brain, 137(5):1350-1360.

Abela, Lucia; Toelle, Sandra P; Hackenberg, Annette; Scheer, Ianina; Güngör, Tayfun; Plecko, Barbara (2013). Fatal outcome of rhino-orbital-cerebral mucormycosis due to bilateral internal carotid occlusion in a child after hematopoietic stem cell transplantation. The Pediatric infectious disease journal, 32(10):1149-1150.

Plecko, Barbara (2013). Peter-Emil-Becker-Price 2012. Neuropediatrics, 44(2):59.

Sterl, Elisabeth; Paul, Karl; Paschke, Eduard; Zschocke, Johannes; Brunner-Krainz, Michaela; Windisch, Eva; Konstantopoulou, Vassiliki; Möslinger, Dorothea; Karall, Daniela; Scholl-Bürgi, Sabine; Sperl, Wolfgang; Lagler, Florian; Plecko, Barbara (2013). Prevalence of tetrahydrobiopterine (BH4)-responsive alleles among Austrian patients with PAH deficiency: comprehensive results from molecular analysis in 147 patients. Journal of Inherited Metabolic Disease, 36(1):7-13.

Plecko, Barbara (2013). Pyridoxine and pyridoxalphosphate-dependent epilepsies. In: Biller, José; Ferro, José M. Neurologic Aspects of Systemic Disease Part III. Burlington: Elsevier, 1811-1817.

Haack, Tobias B; Haberberger, Birgit; Frisch, Eva-Maria; et al; Plecko, Barbara (2012). Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. Journal of Medical Genetics, 49(4):277-283.

Fischer, Carina; Trajanoski, Slave; Papić, Lea; Windpassinger, Christian; Bernert, Günther; Freilinger, Michael; Schabhüttl, Maria; Arslan-Kirchner, Mine; Javaher-Haghighi, Poupak; Plecko, Barbara; Senderek, Jan; Rauscher, Christian; Löscher, Wolfgang N; Pieber, Thomas R; Janecke, Andreas R; Auer-Grumbach, Michaela (2012). SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease. Journal of Neurology, 259(3):515-523.

This list was generated on Mon May 21 13:48:10 2018 CEST.