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Number of items: 41.

Ismail, Hesham M; Krishnamoorthy, Navaneethakrishnan; Al-Dewik, Nader; Zayed, Hatem; Mohamed, Nura A; Giacomo, Valeria Di; Gupta, Sapna; Häberle, Johannes; Thöny, Beat; Blom, Henk J; Kruger, Waren D; Ben-Omran, Tawfeg; Nasrallah, Gheyath K (2018). In silico and in vivo models for Qatari-specific classical homocystinuria as basis for development of novel therapies. Human Mutation, 40(2):230-240.

Floriou-Servou, Amalia; von Ziegler, Lukas; Stalder, Luzia; Sturman, Oliver; Privitera, Mattia; Rassi, Anahita; Cremonesi, Alessio; Thöny, Beat; Bohacek, Johannes (2018). Distinct Proteomic, Transcriptomic, and Epigenetic Stress Responses in Dorsal and Ventral Hippocampus. Biological Psychiatry, 84(7):531-541.

Villiger, Lukas; Grisch-Chan, Hiu Man; Lindsay, Helen; Ringnalda, Femke; Pogliano, Chiara B; Allegri, Gabriella; Fingerhut, Ralph; Häberle, Johannes; Matos, Joao; Robinson, Mark D; Thöny, Beat; Schwank, Gerald (2018). Treatment of a metabolic liver disease by in vivo genome base editing in adult mice. Nature Medicine, 24(10):1519-1525.

Fernández-Lainez, Cynthia; Ibarra-González, Isabel; Alcántara-Ortigoza, Miguel Ángel; Fernández-Hernández, Liliana; Enríquez-Flores, Sergio; González-Del Ángel, Ariadna; Blau, Nenad; Thöny, Beat; Guillén-López, Sara; Belmont-Martínez, Leticia; Ruiz-García, Matilde; Vela-Amieva, Marcela (2018). Mutational spectrum of PTS gene and in silico pathological assessment of a novel variant in Mexico. Brain & Development, 40(7):530-536.

Scherer, Tanja; Allegri, Gabriella; Sarkissian, Christineh N; Ying, Ming; Grisch-Chan, Hiu Man; Rassi, Anahita; Winn, Shelley R; Harding, Cary O; Martinez, Aurora; Thöny, Beat (2018). Tetrahydrobiopterin treatment reduces brain L-Phe but only partially improves serotonin in hyperphenylalaninemic ENU1/2 mice. Journal of Inherited Metabolic Disease, 41(4):709-718.

Winn, Shelley R; Scherer, Tanja; Thöny, Beat; Ying, Ming; Martinez, Aurora; Weber, Sydney; Raber, Jacob; Harding, Cary O (2018). Blood phenylalanine reduction corrects CNS dopamine and serotonin deficiencies and partially improves behavioral performance in adult phenylketonuric mice. Molecular Genetics and Metabolism, 123(1):6-20.

Blau, Nenad; Martinez, Aurora; Hoffmann, Georg F; Thöny, Beat (2018). DNAJC12 deficiency: A new strategy in the diagnosis of hyperphenylalaninemias. Molecular Genetics and Metabolism, 123(1):1-5.

Soria, Leandro R; Allegri, Gabriella; Melck, Dominique; Pastore, Nunzia; Annunziata, Patrizia; Paris, Debora; Polishchuk, Elena; Nusco, Edoardo; Thöny, Beat; Motta, Andrea; Häberle, Johannes; Ballabio, Andrea; Brunetti-Pierri, Nicola (2018). Enhancement of hepatic autophagy increases ureagenesis and protects against hyperammonemia. Proceedings of the National Academy of Sciences of the United States of America, 115(2):391-396.

van Spronsen, Francjan J; Himmelreich, Nastassja; Rüfenacht, Véronique; Shen, Nan; Vliet, Danique van; Al-Owain, Mohammed; Ramzan, Khushnooda; Alkhalifi, Salwa M; Lunsing, Roelineke J; Heiner-Fokkema, Rebecca M; Rassi, Anahita; Gemperle-Britschgi, Corinne; Hoffmann, Georg F; Blau, Nenad; Thöny, Beat (2018). Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia: from attention deficit to severe dystonia and intellectual disability. Journal of Medical Genetics, 55(4):249-253.

Gallego-Villar, L; Hannibal, L; Häberle, Johannes; Thöny, Beat; Ben-Omran, T; Nasrallah, G K; Dewik, Al-N; Kruger, W D; Blom, H J (2017). Cysteamine revisited: repair of arginine to cysteine mutations. Journal of Inherited Metabolic Disease, 40(4):555-567.

Grisch-Chan, Hiu Man; Schlegel, Andrea; Scherer, Tanja; Allegri, Gabriella; Heidelberger, Raphael; Tsikrika, Panagiota; Schmeer, Marco; Schleef, Martin; Harding, Cary O; Häberle, Johannes; Thöny, Beat (2017). Low-dose gene therapy for murine PKU using episomal naked DNA vectors expressing PAH from Its endogenous liver promoter. Molecular Therapy - Nucleic Acids, 7:339-349.

Anikster, Yair; Haack, Tobias B; Vilboux, Thierry; Pode-Shakked, Ben; Thöny, Beat; Shen, Nan; Guarani, Virginia; Meissner, Thomas; Mayatepek, Ertan; Trefz, Friedrich K; Marek-Yagel, Dina; Martinez, Aurora; Huttlin, Edward L; Paulo, Joao A; Berutti, Riccardo; Benoist, Jean-François; Imbard, Apolline; Dorboz, Imen; Heimer, Gali; Landau, Yuval; Ziv-Strasser, Limor; Malicdan, May Christine V; Gemperle-Britschgi, Corinne; Cremer, Kirsten; Engels, Hartmut; Meili, David; Keller, Irene; Bruggmann, Rémy; Strom, Tim M; Meitinger, Thomas; Mullikin, James C; Schwartz, Gerard; Ben-Zeev, Bruria; Gahl, William A; Harper, J Wade; Blau, Nenad; Hoffmann, Georg F; Prokisch, Holger; Opladen, Thomas; Schiff, Manuel (2017). Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability. American Journal of Human Genetics, 100(2):257-266.

Allegri, Gabriella; Deplazes, Sereina; Grisch-Chan, Hiu Man; Mathis, Déborah; Fingerhut, Ralph; Häberle, Johannes; Thöny, Beat (2017). A simple dried blood spot-method for in vivo measurement of ureagenesis by gas chromatography–mass spectrometry using stable isotopes. Clinica Chimica Acta, 464:236-243.

Khatami, Shohreh; Dehnabeh, Soghra Rouhi; Zeinali, Sirous; Thöny, Beat; Alaei, Mohammadreza; Salehpour, Shadab; Setoodeh, Aria; Rohani, Farzaneh; Hajivalizadeh, Fatemeh; Samavat, Ashraf (2017). Four years of diagnostic challenges with tetrahydrobiopterin deficiencies in Iranian patients. In: Morava, E; Baumgartner, M; Patterson, M; Rahman, S; Zschocke, J; Peters, V. JIMD Reports, Volume 32. Berlin, Heidelberg: Springer, 1-8.

Kojima, Karin; Anzai, Rie; Ohba, Chihiro; Goto, Tomohide; Miyauchi, Akihiko; Thöny, Beat; Saitsu, Hirotomo; Matsumoto, Naomichi; Osaka, Hitoshi; Yamagata, Takanori (2016). A female case of aromatic l-amino acid decarboxylase deficiency responsive to MAO-B inhibition. Brain & Development, 38(10):959-963.

Delmelle, Françoise; Thöny, Beat; Clapuyt, Philippe; Blau, Nenad; Nassogne, Marie-Cécile (2016). Neurological improvement following intravenous high-dose folinic acid for cerebral folate transporter deficiency caused by FOLR-1 mutation. European Journal of Paediatric Neurology, 20(5):709-713.

Elsayed, Solaf M; Thöny, Beat (2016). BH4 deficiency with unusual presentations: Challenges and lessons. Egyptian Journal of Medical Human Genetics, 17(3):241-242.

Korner, Germaine; Scherer, Tanja; Adamsen, Dea; Rebuffat, Alexander; Crabtree, Mark; Rassi, Anahita; Scavelli, Rossana; Homma, Daigo; Ledermann, Birgit; Konrad, Daniel; Ichinose, Hiroshi; Wolfrum, Christian; Horsch, Marion; Rathkolb, Birgit; Klingenspor, Martin; Beckers, Johannes; Wolf, Eckhard; Gailus-Durner, Valérie; Fuchs, Helmut; Hrabě de Angelis, Martin; Blau, Nenad; Rozman, Jan; Thöny, Beat (2016). Mildly compromised tetrahydrobiopterin cofactor biosynthesis due to Pts variants leads to unusual body fat distribution and abdominal obesity in mice. Journal of Inherited Metabolic Disease, 39(2):309-319.

Winn, Shelley R; Scherer, Tanja; Thöny, Beat; Harding, Cary O (2016). High dose sapropterin dihydrochloride therapy improves monoamine neurotransmitter turnover in murine phenylketonuria (PKU). Molecular Genetics and Metabolism, 117(1):5-11.

Gemperle-Britschgi, Corinne; Iorgulescu, Daniela; Mager, Monica Alina; Anton-Paduraru, Dana; Vulturar, Romana; Thöny, Beat (2016). A novel common large genomic deletion and two new missense mutations identified in the Romanian phenylketonuria population. Gene, 576(1):182-188.

Phenylketonuria and BH4 Deficiencies. Edited by: Blau, Nenad; Burlina, Alberto B; Burton, Barbara K; Levy, Harvey L; Longo, Nicola; MacDonald, Anita; Martinez, Aurora; van Spronsen, Francjan J; Thöny, Beat (2016). Bremen: UNI-MED Verlag AG.

Korner, Germaine; Noain, Daniela; Ying, Ming; Hole, Magnus; Flydal, Marte I; Scherer, Tanja; Allegri, Gabriella; Rassi, Anahita; Fingerhut, Ralph; Becu-Villalobos, Damasia; Pillai, Samyuktha; Wueest, Stephan; Konrad, Daniel; Lauber-Biason, Anna; Baumann, Christian R; Bindoff, Laurence A; Martinez, Aurora; Thöny, Beat (2015). Brain catecholamine depletion and motor impairment in a Th knock-in mouse with type B tyrosine hydroxylase deficiency. Brain, 138(10):2948-2963.

Rivera-Barahona, Ana; Sánchez-Alcudia, Rocío; Viecelli, Hiu Man; Rüfenacht, Veronique; Pérez, Belén; Ugarte, Magdalena; Häberle, Johannes; Thöny, Beat; Desviat, Lourdes Ruiz (2015). Functional characterization of the spf/ash splicing variation in OTC deficiency of mice and man. PLoS ONE, 10(4):e0122966.

Stoller, Fabienne; Schlegel, Andrea; Viecelli, Hiu Man; Rüfenacht, Véronique; Cesarovic, Nikola; Viecelli, Claudio; Deplazes, Sereina; Bettschart-Wolfensberger, Regula; Hurter, Karin; Schmierer, Philipp A; Sidler, Xaver; Kron, Philipp; Dutkowski, Philipp; Graf, Rolf; Thöny, Beat; Häberle, Johannes (2015). Hepatocyte transfection in small pigs after weaning by hydrodynamic intraportal injection of naked DNA/minicircle vectors. Human Gene Therapy. Methods, 26(5):181-192.

Viecelli, Hiu Man; Harbottle, Richard P; Wong, Suet Ping; Schlegel, Andrea; Chuah, Marinee K; Van den Driessche, Thierry; Harding, Cary O; Thöny, Beat (2014). Treatment of phenylketonuria using minicircle-based naked-DNA gene transfer to murine liver. Hepatology, 60(3):1035-1043.

Thöny, Beat; Ding, Zhaobing; Rebuffat, Alexandre; Viecelli, Hiu Man (2014). Phenotypic reversion of fair hair upon gene therapy of the phenylketonuria mice. Human Gene Therapy, 25(7):573-574.

Nair, Nisha; Rincon, Melvin Y; Evens, Hanneke; Sarcar, Shilpita; Dastidar, Sumitava; Samara-Kuko, Emira; Ghandeharian, Omid; Man Viecelli, Hiu; Thöny, Beat; De Bleser, Pieter; Van den Driessche, Thierry; Chuah, Marinee K (2014). Computationally designed liver-specific transcriptional modules and hyperactive factor IX improve hepatic gene therapy. Blood, 123(20):3195-3199.

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.

Thöny, Beat (2014). Genmarker. Der Informierte Arzt, 02:26-27.

Gallego-Villar, Lorena; Viecelli, Hiu Man; Pérez, Belén; Harding, Cary O; Ugarte, Magdalena; Thöny, Beat; Desviat, Lourdes R (2014). A sensitive assay system to test antisense oligonucleotides for splice suppression therapy in the mouse liver. Molecular Therapy - Nucleic Acids, 3:e193.

Adamsen, Dea; Ramaekers, Vincent; Ho, Horace TB; Britschgi, Corinne; Rüfenacht, Véronique; Meili, David; Bobrowski, Elise; Philippe, Paule; Nava, Caroline; Van Maldergem, Lionel; Bruggmann, Rémy; Walitza, Susanne; Wang, Joanne; Grünblatt, Edna; Thöny, Beat (2014). Autism spectrum disorder associated with low serotonin in CSF and mutations in the SLC29A4 plasma membrane monoamine transporter (PMAT) gene. Molecular Autism, 5:43.

Viecelli, Hiu Man; Thöny, Beat (2014). Challenges of experimental gene therapy for urea cycle disorders. Journal of Pediatric Biochemistry, 4(1):65-73.

Heintz, Caroline; Troxler, Heinz; Martinez, Aurora; Thöny, Beat; Blau, Nenad (2012). Quantification of phenylalanine hydroxylase activity by isotope-dilution liquid chromatography-electrospray ionization tandem mass spectrometry. Molecular Genetics and Metabolism, 105(4):559-665.

Friedman, Jennifer; Roze, Emmanuel; Abdenur, Jose E; Chang, Richard; Gasperini, Serena; Saletti, Veronica; Wali, Gurusidheshwar M; Eiroa, Hernan; Neville, Brian; Felice, Alex; Parascandalo, Ray; Zafeiriou, Dimitrios I; Arrabal-Fernandez, Luisa; Dill, Patricia; Eichler, Florian S; Echenne, Bernard; Gutierrez-Solana, Luis G; Hoffmann, Georg F; Hyland, Keith; Kusmierska, Katarzyna; Tijssen, Marina A J; Lutz, Thomas; Mazzuca, Michel; Penzien, Johann; Poll-The, Bwee Tien; Sykut-Cegielska, Jolanta; Szymanska, Krystyna; Thöny, Beat; Blau, Nenad (2012). Sepiapterin reductase deficiency: A treatable mimic of cerebral palsy. Annals of Neurology, 71(4):520-530.

Sarkissian, Christineh N; Ying, Ming; Scherer, Tanja; Thöny, Beat; Martinez, Aurora (2012). The mechanism of BH4-responsive hyperphenylalaninemia—As it occurs in the ENU1/2 genetic mouse model. Human Mutation, 33(10):1464-1473.

Opladen, Thomas; Abu Seda, Bettina; Rassi, Anahita; Thöny, Beat; Hoffmann, Georg F; Blau, Nenad (2011). Erratum to: Diagnosis of tetrahydrobiopterin deficiency using filter paper blood spots: further development of the method and 5 years experience. Journal of Inherited Metabolic Disease, 34(3):843.

Harding, Cary O; Thöny, Beat (2011). Update on the development of gene therapy for PKU. National PKU News, 22(3):2-5.

Opladen, Thomas; Zurflüh, Marcel; Kern, Ilse; Kierat, Lucja; Thöny, Beat; Blau, Nenad (2005). Severe mucitis after sublingual administration of tetrahydrobiopterin in a patient with tetrahydrobiopterin-responsive phenylketonuria. European Journal of Pediatrics, 164(6):395-396.

Kluge, Claudia; Leimbacher, Walter; Heizmann, Claus W; Blau, Nenad; Thöny, Beat (1996). Isolation of 6-Pyruvoyl-tetrahydropterin Synthase cDNAs from Human Brain. Pteridines, 7(3):91-93.

Köster, Sandra; Thöny, Beat; Macheroux, Peter; Curtius, Hans-Christoph; Heizmann, Claus W; Ghisla, Sandro (1995). Characterization of Human Pterin-4a-carbinolamine Dehydratase/Dimerization Cofactor of Hepatocyte Nuclear Factor-1α, and of the Cys81-mutant Involved in Hyperphenylalanincemia. Pteridines, 6(3):123-125.

Blau, Nenad; Thöny, Beat; Heizmann, Claus W; Dhondt, Jean-Louis (1993). Tetrahydrobiopterin Deficiency: From Phenotype to Genotype. Pteridines, 4(1):1-10.

This list was generated on Sun Jun 16 00:36:14 2019 CEST.