Cerebral Angiopathies as a Cause of Ischemic Stroke in Children: Differential Diagnosis and Treatment Options

door Steiger, Hans-Jakob, Hänggi, Daniel, Assmann, Birgit, Turowski, Bernd
Gepubliceerd in 2010

Succinic Semialdehyde Dehydrogenase Deficiency: In Vitro and In Silico Characterization of a Novel Pathogenic Missense Variant and Analysis of the Mutational Spectrum of ALDH5A1

door Brennenstuhl, Heiko, Didiasova, Miroslava, Assmann, Birgit, Bertoldi, Mariarita, Molla, Gianluca, Jung-Klawitter, Sabine, Kuseyri Hübschmann, Oya, Schröter, Julian, Opladen, Thomas, Tikkanen, Ritva
Gepubliceerd in Int J Mol Sci (2020)

Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency

door Wassenberg, Tessa, Molero-Luis, Marta, Jeltsch, Kathrin, Hoffmann, Georg F., Assmann, Birgit, Blau, Nenad, Garcia-Cazorla, Angeles, Artuch, Rafael, Pons, Roser, Pearson, Toni S., Leuzzi, Vincenco, Mastrangelo, Mario, Pearl, Phillip L., Lee, Wang Tso, Kurian, Manju A., Heales, Simon, Flint, Lisa, Verbeek, Marcel, Willemsen, Michèl, Opladen, Thomas
Gepubliceerd in Orphanet J Rare Dis (2017)

Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study

door Kurian, Manju A, Li, Yan, Zhen, Juan, Meyer, Esther, Hai, Nebula, Christen, Hans-Jürgen, Hoffmann, Georg F, Jardine, Philip, von Moers, Arpad, Mordekar, Santosh R, O'Callaghan, Finbar, Wassmer, Evangeline, Wraige, Elizabeth, Dietrich, Christa, Lewis, Timothy, Hyland, Keith, Heales, Simon JR, Sanger, Terence, Gissen, Paul, Assmann, Birgit E, Reith, Maarten EA, Maher, Eamonn R
Gepubliceerd in 2010

Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus Recommendations

door 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
Gepubliceerd in JIMD Rep (2014)

Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH(4)) deficiencies

door Opladen, Thomas, López-Laso, Eduardo, Cortès-Saladelafont, Elisenda, Pearson, Toni S., Sivri, H. Serap, Yildiz, Yilmaz, Assmann, Birgit, Kurian, Manju A., Leuzzi, Vincenzo, Heales, Simon, Pope, Simon, Porta, Francesco, García-Cazorla, Angeles, Honzík, Tomáš, Pons, Roser, Regal, Luc, Goez, Helly, Artuch, Rafael, Hoffmann, Georg F., Horvath, Gabriella, Thöny, Beat, Scholl-Bürgi, Sabine, Burlina, Alberto, Verbeek, Marcel M., Mastrangelo, Mario, Friedman, Jennifer, Wassenberg, Tessa, Jeltsch, Kathrin, Kulhánek, Jan, Kuseyri Hübschmann, Oya
Gepubliceerd in Orphanet J Rare Dis (2020)

Correction to: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies

door Opladen, Thomas, López-Laso, Eduardo, Cortès-Saladelafont, Elisenda, Pearson, Toni S., Sivri, H. Serap, Yildiz, Yilmaz, Assmann, Birgit, Kurian, Manju A., Leuzzi, Vincenzo, Heales, Simon, Pope, Simon, Porta, Francesco, García-Cazorla, Angeles, Honzík, Tomáš, Pons, Roser, Regal, Luc, Goez, Helly, Artuch, Rafael, Hoffmann, Georg F., Horvath, Gabriella, Thöny, Beat, Scholl-Bürgi, Sabine, Burlina, Alberto, Verbeek, Marcel M., Mastrangelo, Mario, Friedman, Jennifer, Wassenberg, Tessa, Jeltsch, Kathrin, Kulhánek, Jan, Kuseyri Hübschmann, Oya
Gepubliceerd in Orphanet J Rare Dis (2020)

Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy

door Colin, Estelle, Daniel, Jens, Ziegler, Alban, Wakim, Jamal, Scrivo, Aurora, Haack, Tobias B., Khiati, Salim, Denommé, Anne-Sophie, Amati-Bonneau, Patrizia, Charif, Majida, Procaccio, Vincent, Reynier, Pascal, Aleck, Kyrieckos A., Botto, Lorenzo D., Herper, Claudia Lena, Kaiser, Charlotte Sophia, Nabbout, Rima, N’Guyen, Sylvie, Mora-Lorca, José Antonio, Assmann, Birgit, Christ, Stine, Meitinger, Thomas, Strom, Tim M., Prokisch, Holger, Miranda-Vizuete, Antonio, Hoffmann, Georg F., Lenaers, Guy, Bomont, Pascale, Liebau, Eva, Bonneau, Dominique
Gepubliceerd in Am J Hum Genet (2016)

Monogenic variants in dystonia: an exome-wide sequencing study

door Zech, Michael, Jech, Robert, Boesch, Sylvia, Škorvánek, Matej, Weber, Sandrina, Wagner, Matias, Zhao, Chen, Jochim, Angela, Necpál, Ján, Dincer, Yasemin, Vill, Katharina, Distelmaier, Felix, Stoklosa, Malgorzata, Krenn, Martin, Grunwald, Stephan, Bock-Bierbaum, Tobias, Fečíková, Anna, Havránková, Petra, Roth, Jan, Příhodová, Iva, Adamovičová, Miriam, Ulmanová, Olga, Bechyně, Karel, Danhofer, Pavlína, Veselý, Branislav, Haň, Vladimír, Pavelekova, Petra, Gdovinová, Zuzana, Mantel, Tobias, Meindl, Tobias, Sitzberger, Alexandra, Schröder, Sebastian, Blaschek, Astrid, Roser, Timo, Bonfert, Michaela V., Haberlandt, Edda, Plecko, Barbara, Leineweber, Birgit, Berweck, Steffen, Herberhold, Thomas, Langguth, Berthold, Švantnerová, Jana, Minár, Michal, Ramos-Rivera, Gonzalo Alonso, Wojcik, Monica H., Pajusalu, Sander, Õunap, Katrin, Schatz, Ulrich A., Pölsler, Laura, Milenkovic, Ivan, Laccone, Franco, Pilshofer, Veronika, Colombo, Roberto, Patzer, Steffi, Iuso, Arcangela, Vera, Julia, Troncoso, Monica, Fang, Fang, Prokisch, Holger, Wilbert, Friederike, Eckenweiler, Matthias, Graf, Elisabeth, Westphal, Dominik S., Riedhammer, Korbinian M., Brunet, Theresa, Alhaddad, Bader, Berutti, Riccardo, Strom, Tim M., Hecht, Martin, Baumann, Matthias, Wolf, Marc, Telegrafi, Aida, Person, Richard E., Millan Zamora, Francisca, Henderson, Lindsay B., Weise, David, Musacchio, Thomas, Volkmann, Jens, Szuto, Anna, Becker, Jessica, Cremer, Kirsten, Sycha, Thomas, Zimprich, Fritz, Kraus, Verena, Makowski, Christine, Gonzalez-Alegre, Pedro, Bardakjian, Tanya M., Ozelius, Laurie J., Vetro, Annalisa, Guerrini, Renzo, Maier, Esther, Borggraefe, Ingo, Kuster, Alice, Wortmann, Saskia B., Hackenberg, Annette, Steinfeld, Robert, Assmann, Birgit, Staufner, Christian, Opladen, Thomas, Růžička, Evžen, Cohn, Ronald D., Dyment, David, Chung, Wendy K., Engels, Hartmut, Ceballos-Baumann, Andres, Ploski, Rafal, Daumke, Oliver, Haslinger, Bernhard, Mall, Volker, Oexle, Konrad, Winkelmann, Juliane
Gepubliceerd in Lancet Neurol (2020)