Tyrosine hydroxylase deficiency—Clinical insights and a novel deletion in TH gene in an Indian patient

por Bijarnia‐Mahay, Sunita, Jain, Vivek, Thöny, Beat
Publicado 2020

Oxidative Stress, Folate Receptor Autoimmunity, and CSF Findings in Severe Infantile Autism

por Ramaekers, Vincent T., Sequeira, Jeffrey M., Thöny, Beat, Quadros, Edward V.
Publicado 2020

Influence of Early Stress on Social Abilities and Serotonergic Functions across Generations in Mice

por Franklin, Tamara B., Linder, Natacha, Russig, Holger, Thöny, Beat, Mansuy, Isabelle M.
Publicado 2011

A Sensitive Assay System To Test Antisense Oligonucleotides for Splice Suppression Therapy in the Mouse Liver

por Gallego-Villar, Lorena, Viecelli, Hiu Man, Pérez, Belén, Harding, Cary O, Ugarte, Magdalena, Thöny, Beat, Desviat, Lourdes R
Publicado 2014

Improvement of DNA Vector Delivery of DOTAP Lipoplexes by Short-Chain Aminolipids

por Buck, Jonas, Mueller, Dennis, Mettal, Ute, Ackermann, Miriam, Grisch-Chan, Hiu Man, Thöny, Beat, Zumbuehl, Andreas, Huwyler, Jörg, Witzigmann, Dominik
Publicado 2020

Functional Characterization of the spf/ash Splicing Variation in OTC Deficiency of Mice and Man

por Rivera-Barahona, Ana, Sánchez-Alcudia, Rocío, Viecelli, Hiu Man, Rüfenacht, Veronique, Pérez, Belén, Ugarte, Magdalena, Häberle, Johannes, Thöny, Beat, Desviat, Lourdes Ruiz
Publicado 2015

Correction: Functional Characterization of the spf/ash Splicing Variation in OTC Deficiency of Mice and Man

por Rivera-Barahona, Ana, Sánchez-Alcudia, Rocío, Viecelli, Hiu Man, Rüfenacht, Veronique, Pérez, Belén, Ugarte, Magdalena, Häberle, Johannes, Thöny, Beat, Desviat, Lourdes Ruiz
Publicado 2015

Sapropterin dihydrochloride therapy in dihydropteridine reductase deficiency: Insight from the first case with molecular diagnosis in Brazil

por Lourenço, Charles Marques, Dovidio, Janaina, Lopes, Isabela F., Silva, Laís C., Almeida, Marcela, Vagnini, Laura, Fonseca, Jacqueline, Carneiro, Zumira A., Thöny, Beat
Publicado 2021

Low-Dose Gene Therapy for Murine PKU Using Episomal Naked DNA Vectors Expressing PAH from Its Endogenous Liver Promoter

por 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
Publicado 2017

Development of Covalent Chitosan-Polyethylenimine Derivatives as Gene Delivery Vehicle: Synthesis, Characterization, and Evaluation

por Nicolle, Laura, Casper, Jens, Willimann, Melanie, Journot, Céline M. A., Detampel, Pascal, Einfalt, Tomaž, Grisch-Chan, Hiu Man, Thöny, Beat, Gerber-Lemaire, Sandrine, Huwyler, Jörg
Publicado 2021

Tetrahydrobiopterin deficiencies: Lesson from clinical experience

por Bozaci, Ayse Ergul, Er, Esra, Yazici, Havva, Canda, Ebru, Kalkan Uçar, Sema, Güvenc Saka, Merve, Eraslan, Cenk, Onay, Hüseyin, Habif, Sara, Thöny, Beat, Coker, Mahmut
Publicado 2021

Antisense Oligonucleotide Rescue of Deep-Intronic Variants Activating Pseudoexons in the 6-Pyruvoyl-Tetrahydropterin Synthase Gene

por Martínez-Pizarro, Ainhoa, Leal, Fátima, Holm, Lise Lolle, Doktor, Thomas K., Petersen, Ulrika S.S., Bueno, María, Thöny, Beat, Pérez, Belén, Andresen, Brage S., Desviat, Lourdes R.
Publicado 2022

The Pah-R261Q mouse reveals oxidative stress associated with amyloid-like hepatic aggregation of mutant phenylalanine hydroxylase

por Aubi, Oscar, Prestegård, Karina S., Jung-KC, Kunwar, Shi, Tie-Jun Sten, Ying, Ming, Grindheim, Ann Kari, Scherer, Tanja, Ulvik, Arve, McCann, Adrian, Spriet, Endy, Thöny, Beat, Martinez, Aurora
Publicado 2021

Autism spectrum disorder associated with low serotonin in CSF and mutations in the SLC29A4 plasma membrane monoamine transporter (PMAT) gene

por 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
Publicado 2014

Intrabiliary infusion of naked DNA vectors targets periportal hepatocytes in mice

por Deplazes, Sereina, Schlegel, Andrea, Song, Zhuolun, Allegri, Gabriella, Rimann, Nicole, Scherer, Tanja, Willimann, Melanie, Opitz, Lennart, Cunningham, Sharon C., Alexander, Ian E., Kipar, Anja, Häberle, Johannes, Thöny, Beat, Grisch-Chan, Hiu Man
Publicado 2022

Delivery of non-viral naked DNA vectors to liver in small weaned pigs by hydrodynamic retrograde intrabiliary injection

por Chan, Tatjana, Grisch-Chan, Hiu Man, Schmierer, Philipp, Subotic, Ulrike, Rimann, Nicole, Scherer, Tanja, Hetzel, Udo, Bozza, Matthias, Harbottle, Richard, Williams, James A., Steblaj, Barbara, Ringer, Simone K., Häberle, Johannes, Sidler, Xaver, Thöny, Beat
Publicado 2022

In vivo cytidine base editing of hepatocytes without detectable off-target mutations in RNA and DNA

por Villiger, Lukas, Rothgangl, Tanja, Witzigmann, Dominik, Oka, Rurika, Lin, Paulo J.C., Qi, Weihong, Janjuha, Sharan, Berk, Christian, Ringnalda, Femke, Beattie, Mitchell B., Stoffel, Markus, Thöny, Beat, Hall, Jonathan, Rehrauer, Hubert, van Boxtel, Ruben, Tam, Ying K., Schwank, Gerald
Publicado 2021

Development of a porcine model of phenylketonuria with a humanized R408W mutation for gene editing

por Kaiser, Robert A., Carlson, Daniel F., Allen, Kari L., Webster, Dennis A., VanLith, Caitlin J., Nicolas, Clara T., Hillin, Lori G., Yu, Yue, Kaiser, Catherine W., Wahoff, William R., Hickey, Raymond D., Watson, Adrienne L., Winn, Shelley R., Thöny, Beat, Kern, Douglas R., Harding, Cary O., Lillegard, Joseph B.
Publicado 2021

Correction of a urea cycle defect after ex vivo gene editing of human hepatocytes

por Zabulica, Mihaela, Srinivasan, Raghuraman C., Akcakaya, Pinar, Allegri, Gabriella, Bestas, Burcu, Firth, Mike, Hammarstedt, Christina, Jakobsson, Tomas, Jakobsson, Towe, Ellis, Ewa, Jorns, Carl, Makris, Georgios, Scherer, Tanja, Rimann, Nicole, van Zuydam, Natalie R., Gramignoli, Roberto, Forslöw, Anna, Engberg, Susanna, Maresca, Marcello, Rooyackers, Olav, Thöny, Beat, Häberle, Johannes, Rosen, Barry, Strom, Stephen C.
Publicado 2021

Novel cerebrospinal fluid biomarkers of glucose transporter type 1 deficiency syndrome: Implications beyond the brain's energy deficit

por Peters, Tessa M. A., Merx, Jona, Kooijman, Pieter C., Noga, Marek, de Boer, Siebolt, van Gemert, Loes A., Salden, Guido, Engelke, Udo F. H., Lefeber, Dirk J., van Outersterp, Rianne E., Berden, Giel, Boltje, Thomas J., Artuch, Rafael, Pías‐Peleteiro, Leticia, García‐Cazorla, Ángeles, Barić, Ivo, Thöny, Beat, Oomens, Jos, Martens, Jonathan, Wevers, Ron A., Verbeek, Marcel M., Coene, Karlien L. M., Willemsen, Michèl A. A. P.
Publicado 2022