Search Results - "Penzien, Johann"

Sepiapterin reductase deficiency: A Treatable Mimic of Cerebral Palsy by 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

“…Objective: Sepiapterin reductase deficiency (SRD) is an under‐recognized levodopa‐responsive disorder. We describe clinical, biochemical, and molecular…”
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Mutations in the Sepiapterin Reductase Gene Cause a Novel Tetrahydrobiopterin-Dependent Monoamine-Neurotransmitter Deficiency without Hyperphenylalaninemia by Bonafé, Luisa, Thöny, Beat, Penzien, Johann M., Czarnecki, Barbara, Blau, Nenad

“…Classic tetrahydrobiopterin (BH 4) deficiencies are characterized by hyperphenylalaninemia and deficiency of monoamine neurotransmitters. In this article, we…”
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B4GALT1-Congenital Disorders of Glycosylation Presents as a Non-Neurologic Glycosylation Disorder with Hepatointestinal Involvement by Guillard, Maïlys, Morava, Eva, MD, PhD, de Ruijter, Jorg, Roscioli, Tony, MD, PhD, Penzien, Johann, MD, PhD, van den Heuvel, Lambert, PhD, Willemsen, Michel A., MD, PhD, de Brouwer, Arjan, PhD, Bodamer, Olaf A., MD, PhD, Wevers, Ron A., PhD, Lefeber, Dirk J., PhD

“…The clinical phenotype of congenital disorders of glycosylation is heterogeneous, mostly including a severe neurological involvement and multisystem disease…”
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Sepiapterin Reductase Deficiency: Clinical Presentation and Evaluation of Long-Term Therapy by Echenne, Bernard, Roubertie, Agathe, Assmann, Birgit, Lutz, Thomas, Penzien, Johann M., Thöny, Beat, Blau, Nenad, Hoffmann, Georg F.

“…Sepiapterin reductase deficiency has recently been recognized as a treatable, inborn error of pterin metabolism. This investigation is the first long-term…”
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Detection of Sepiapterin in CSF of Patients with Sepiapterin Reductase Deficiency by Zorzi, Giovanna, Redweik, Udo, Trippe, Heike, Penzien, Johann M., Thöny, Beat, Blau, Nenad

“…Sepiapterin reductase (SR) deficiency was recently described in patients with a severe biogenic amine deficiency presenting without hyperphenylalaninemia and…”
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SLC13A5 is the second gene associated with Kohlschütter-Tönz syndrome by Schossig, Anna, Bloch-Zupan, Agnès, Lussi, Adrian, Wolf, Nicole I, Raskin, Salmo, Cohen, Monika, Giuliano, Fabienne, Jurgens, Julie, Krabichler, Birgit, Koolen, David A, de Macena Sobreira, Nara Lygia, Maurer, Elisabeth, Muller-Bolla, Michèle, Penzien, Johann, Zschocke, Johannes, Kapferer-Seebacher, Ines

“…Kohlschütter-Tönz syndrome (KTZS) is a rare autosomal-recessive disease characterised by epileptic encephalopathy, intellectual disability and amelogenesis…”
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Natalizumab therapy for highly active pediatric multiple sclerosis by Kornek, Barbara, Aboul-Enein, Fahmy, Rostasy, Kevin, Milos, Ruxandra-Iulia, Steiner, Irene, Penzien, Johann, Hellwig, Kerstin, Pitarokoili, Kalliopi, Storm van's Gravesande, Karin, Karenfort, Michael, Blaschek, Astrid, Meyer, Andreas, Seidl, Rainer, Debelic, Diana, Vass, Karl, Prayer, Daniela, Kristoferitsch, Wolfgang, Bayas, Antonios

“…Given the high frequency of failure of first-line therapies, there is an urgent need for second-line treatment strategies for pediatric patients with multiple…”
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Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders by Jurgens, Julie A., Barry, Brenda J., Chan, Wai-Man, MacKinnon, Sarah, Matos Ruiz, Paola M., England, Eleina M., Pais, Lynn, Groopman, Emily, Russell, Kathryn A., Di Gioia, Silvio Alessandro, Lee, Arthur S., Shaaban, Sherin, Bekele, Sarah, Toffoloni, Melissa, Foster, Emma E., Berube, Lindsay, Rivera-Quiles, Cristina, Mensching, Fiona M., Sanchis-Juan, Alba, Fu, Jack M., Wong, Isaac, Zhao, Xuefang, Wilson, Michael W., Lek, Monkol, Abarca-Barriga, Hugo, Al-Haddad, Christiane, Chacon-Camacho, Oscar Francisco, Chang, Lan, Christiansen, Stephen P., Ciccarelli, Maria Laura, Cordonnier, Monique, Cox, Gerald F., Curry, Cynthia J., Lee Dahm, Thomas, David, Karen L., De Berardinis, Teresa, Demer, Joseph L., Drack, Arlene V., Eggenberger, Eric, Elder, James E., Elliott, Alexandra T., Epley, K. David, Feldman, Hagit Baris, Ferreira, Carlos R., Gerth-Kahlert, Christina, Halliday, Dorothy J., Hanisch, Frank, Hay, Eleanor, Holder, Christopher, Iannaccone, Alessandro, Isenberg, Sherwin J., Kahana, Alon, Kazlas, Melanie, Kerr, Natalie C., Ko, Melissa W., Koc, Feray, Larsen, Dorte Ancher, Lay-Son, Guillermo, Ledoux, Danielle M., Levin, Alex V., Levy, Richard L., Mackey, David A., Mantagos, Iason S., Marti, Candice, Menezes, Manoj P., Mikail, Claudia N., Miller, Kathryn Bisceglia, Miyana, Kaori, Mullineaux, Lisa, Nishimura, Julie K., Noble, A. Gwendolyn, Pavone, Piero, Phalen, James A., Poduri, Annapurna, Polo, Claudia R., Prasov, Lev, Ramos, Feliciano J., Ramos-Caceres, Maria, Robb, Richard M., Rossillion, Béatrice, Smith, Lois E.H., Sorkin, Jeffrey A., Soul, Janet S., Stalker, Heather J., Stasheff, Steven F., Strassberg, Sonya, Thomas, Ioan Talfryn, VanderVeen, Deborah K., Vincent, Andrea L., Wabbels, Bettina, Wong, Agnes M.F., Wu, Carolyn, Yeung, Alison, Young, Terri L., Zwaan, Johan, Brand, Harrison, Talkowski, Michael E., MacArthur, Daniel G., Robson, Caroline D., Engle, Elizabeth C.

“…To identify genetic etiologies and genotype/phenotype associations for unsolved ocular congenital cranial dysinnervation disorders (oCCDDs). We coupled…”
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Evaluation of the 2010 McDonald multiple sclerosis criteria in children with a clinically isolated syndrome by Kornek, Barbara, Schmitl, Beate, Vass, Karl, Zehetmayer, Sonja, Pritsch, Martin, Penzien, Johann, Karenfort, Michael, Blaschek, Astrid, Seidl, Rainer, Prayer, Daniela, Rostasy, Kevin

“…Background: Magnetic resonance imaging diagnostic criteria for paediatric multiple sclerosis have been established on the basis of brain imaging findings…”
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Effects of Levetiracetam and Sulthiame on EEG in benign epilepsy with centrotemporal spikes: A randomized controlled trial by Tacke, Moritz, Borggraefe, Ingo, Gerstl, Lucia, Heinen, Florian, Vill, Katharina, Bonfert, Michaela, Bast, Thomas, Neubauer, Bernd Axel, Baumeister, Friedrich, Baethmann, Martina, Bentele, Karl, Blank, Christian, Blank, Harald M., Bode, Harald, Bosch, Friedrich, Brandl, Ulrich, Brockmann, Knut, Dahlem, Peter, Ernst, Jan-Peter, Feldmann, Evemarie, Fiedler, Andreas, Gerigk, Michael, Heß, Soeren, Hikel, Christiane, Hoffmann, Hans-Georg, Kieslich, Matthias, Klepper, Joerg, Kluger, Gerhard, Koch, Hartmut, Koch, Walter, Korinthenberg, Rudolf, Krois, Ilona, Kühne, Hermann, Kurlemann, Gerhard, Mandl, Michaela, Mause, Ulrike, Navratil, Peter, Opp, Joachim, Penzien, Johann, Prietsch, Viola, Quattländer, Axel, Rating, Dietz, Schara, Ulrike, Shamdeen, Mohammed G., Sprinz, Andreas, Wendker-Magrabi, Hildegard, Stephani, Ulrich, Muhle, Hiltrud, Straßburg, Hans-Michael, Töpke, Bärbel, Trollmann, Regina, Tuschen-Hofstätter, Elisabeth, Waltz, Stephan, Weber, Gabriele, Wien, Frank U., Wolff, Markus, Polster, Tilman, Freitag, Hedwig, Sönmez, Ötzcam, Reinhardt, Klaus, Traus, Marion, Hoovey, Zeecam

“…•EEG data from a randomized controlled trial in children with BECTS.•No significant differences between Sulthiame or Levetiracetam.•Persistent EEG pathologies…”
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Neutralization of a negative charge in the S1–S2 region of the KV7.2 (KCNQ2) channel affects voltage‐dependent activation in neonatal epilepsy by Wuttke, Thomas V., Penzien, Johann, Fauler, Michael, Seebohm, Guiscard, Lehmann‐Horn, Frank, Lerche, Holger, Jurkat‐Rott, Karin

“…The voltage‐gated potassium channels KV7.2 and KV7.3 (genes KCNQ2 and KCNQ3) constitute a major component of the M‐current controlling the firing rate in many…”
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Neutralization of a negative charge in the S1–S2 region of the K V 7.2 (KCNQ2) channel affects voltage‐dependent activation in neonatal epilepsy by Wuttke, Thomas V., Penzien, Johann, Fauler, Michael, Seebohm, Guiscard, Lehmann‐Horn, Frank, Lerche, Holger, Jurkat‐Rott, Karin

“…The voltage‐gated potassium channels K V 7.2 and K V 7.3 (genes KCNQ2 and KCNQ3 ) constitute a major component of the M‐current controlling the firing rate in…”
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Neutralization of a negative charge in the S1–S2 region of the KV7.2 (KCNQ2) channel affects voltage-dependent activation in neonatal epilepsy by Thomas V. Wuttke, Johann Penzien, Michael Fauler, Guiscard Seebohm, Frank Lehmann-Horn, Holger Lerche, Karin Jurkat-Rott

“…The voltage-gated potassium channels K V 7.2 and K V 7.3 (genes KCNQ2 and KCNQ3 ) constitute a major component of the M-current controlling the firing rate in…”
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4G/5G promoter polymorphism in the plasminogen-activator-inhibitor-1 gene in children with systemic meningococcaemia by GEISHOFER, Gotho, BINDER, Alexander, ZENZ, Werner, MÜLLER, Martin, ZÖHRER, Bettina, RESCH, Bernhard, MÜLLER, Wilhelm, FABER, Jörg, FINN, Adam, ENDLER, Georg, MANNHALTER, Christine

“…Meningococcal disease may present as sepsis, meningitis or a combination of both. Impaired fibrinolysis and massive elevation of the plasminogen activator…”
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Cranial MRI changes may precede symptoms in Hallervorden-Spatz syndrome by Hayflick, Susan J., Penzien, Johann M., Michl, Wolfgang, Sharif, Uzma M., Rosman, N.Paul, Wheeler, Patricia G.

“…Two families are presented in which siblings of children affected with Hallervorden-Spatz syndrome exhibited characteristic cranial magnetic resonance imaging…”
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Characterization of four arylsulfatase A missense mutations G86D, Y201C, D255H, and E312D causing metachromatic leukodystrophy by Hermann, Stefanie, Schestag, Frank, Polten, Andreas, Kafert, Sabine, Penzien, Johann, Zlotogora, Joel, Baumann, Nicole, Gieselmann, Volkmar

“…Metachromatic leukodystrophy is a lysosomal storage disease caused by the deficiency of arylsulfatase A. Here we describe a hitherto unknown arylsulfatase A…”
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Does migraine-related stroke occur in childhood? by Rossi, L N, Penzien, J M, Deonna, T, Goutières, F, Vassella, F

“…This report concerns seven children who had at least one episode of infarct, possibly during an attack of migraine. They fulfilled the following criteria:…”
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