Αποτελέσματα αναζήτησης - Birgit Assmann

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  1. 1
    Inherited Disorders of Neurotransmitters: Classification and Practical Approaches for Diagnosis and Treatment

    Inherited Disorders of Neurotransmitters: Classification and Practical Approaches for Diagnosis and Treatment από Heiko Brennenstuhl, Sabine Jung‐Klawitter, Birgit Assmann, Thomas Opladen

    Έκδοση 2018
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Revisão
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    Αποθηκεύτηκε σε:
  2. 2
    Early-onset phenotype of bi-allelic <i>GRN</i> mutations

    Early-onset phenotype of bi-allelic <i>GRN</i> mutations από Caroline Neuray, Tipu Sultan, Javeira Raza Alvi, Marcondes C. França, Birgit Assmann, Matias Wagner, Laura Canafoglia, Silvana Franceschetti, Giacomina Rossi, Isabel Santana, Carmo Macário, Maria Rosário Almeida, Mahesh Kamate, Sumit Parikh, Houda Zghal Elloumi, David Murphy, Stéphanie Efthymiou, Reza Maroofian, Henry Houlden

    Έκδοση 2020
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Carta
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  3. 3
    Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency

    Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency από Tessa Wassenberg, Marta Molero‐Luis, Kathrin Jeltsch, Georg F. Hoffmann, Birgit Assmann, Nenad Blau, Ángeles García‐Cazorla, Rafael Artuch, Roser Pons, Toni S. Pearson, Vincenco Leuzzi, Mario Mastrangelo, Phillip L. Pearl, Wang‐Tso Lee, Manju A. Kurian, Simon Heales, Lisa Flint, Marcel M. Verbeek, Michèl A.A.P. Willemsen, Thomas Opladen

    Έκδοση 2017
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Revisão
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  4. 4
    Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study

    Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study από Manju A. Kurian, Yan Li, Juan Zhen, Esther Meyer, Nebula A. Hai, H.‐J. Christen, Georg F. Hoffmann, Philip Jardine, Arpad von Moers, Santosh Mordekar, Finbar O’Callaghan, Evangeline Wassmer, Elizabeth Wraige, Christa Dietrich, Timothy Lewis, Keith Hyland, Simon Heales, Terence D. Sanger, Paul Gissen, Birgit Assmann, Maarten E. A. Reith, Eamonn R. Maher

    Έκδοση 2010
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  5. 5
    The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency

    The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency από Natalia Juliá‐Palacios, Oya Kuseyri Hübschmann, Mireia Olivella, Roser Pons, Gabriella Horváth, Thomas Lücke, Cheuk Wing Fung, Suet‐Na Wong, Elisenda Cortès‐Saladelafont, M. Mar Rovira‐Remisa, Yılmaz Yıldız, Saadet Mercimek‐Andrews, Birgit Assmann, Galina Stevanović, Filippo Manti, Heiko Brennenstuhl, Sabine Jung‐Klawitter, Kathrin Jeltsch, Serap Sivri, Sven F. Garbade, Àngels García‐Cazorla, Thomas Opladen

    Έκδοση 2024
    Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  6. 6
    Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patients

    Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patients από André B. P. Kuilenburg, Doreen Dobritzsch, Judith Meijer, Rutger Meinsma, Jean‐François Benoist, Birgit Assmann, Susanne Schubert‐Bast, Georg F. Hoffmann, Marinus Durán, Maaike C. de Vries, G Kurlemann, François Eyskens, Lawrence Greed, Jörn Oliver Sass, Karl Otfried Schwab, A Sewell, John H. Walter, Andreas Hahn, Lida Zoetekouw, Antònia Ribes, Suzanne Lind, Raoul C. M. Hennekam

    Έκδοση 2010
    Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  7. 7
    Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus Recommendations

    Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus Recommendations από Clara van Karnebeek, Sylvia Stöckler‐Ipsiroglu, Sravan Jaggumantri, Birgit Assmann, Peter Baxter, Daniela Buhaş, Levinus A. Bok, Barbara Cheng, Curtis R. Coughlin, Anibh M. Das, Alette Giezen, Walla Al‐Hertani, Gloria Y.F. Ho, Uta Meyer, Philippa B. Mills, Barbara Plecko, Eduard A. Struys, Keiko Ueda, Monique Albersen, Nanda M. Verhoeven, Sídney M. Gospe, Renata C. Gallagher, Johan K. L. Van Hove, Hans Hartmann

    Έκδοση 2014
    Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  8. 8
    Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies

    Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies από Thomas Opladen, Eduardo López‐Laso, Elisenda Cortès‐Saladelafont, Toni S. Pearson, Serap Sivri, Yılmaz Yıldız, Birgit Assmann, Manju A. Kurian, Vincenzo Leuzzi, Simon Heales, Simon Pope, Francesco Porta, Ángeles García‐Cazorla, Tomáš Honzík, Roser Pons, Luc Régal, Helly Goez, Rafael Artuch, Georg F. Hoffmann, Gabriella Horváth, Beat Thöny, Sabine Scholl‐Bürgi, Alberto Burlina, Marcel M. Verbeek, Mario Mastrangelo, Jennifer Friedman, Tessa Wassenberg, Kathrin Jeltsch, Jan Kulhánek, Oya Kuseyri Hübschmann

    Έκδοση 2020
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Revisão
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  9. 9
    Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy

    Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy από Estelle Colin, Jens Daniel, Alban Ziegler, Jamal Wakim, Aurora Scrivo, Tobias B. Haack, Salim Khiati, Anne‐Sophie Denommé‐Pichon, Patrizia Amati‐Bonneau, Majida Charif, Vincent Procaccio, Pascal Reynier, Kyrieckos A. Aleck, Lorenzo D. Botto, Claudia Lena Herper, Charlotte Sophia Kaiser, Rima Nabbout, Sylvie N’Guyen, José Antonio Mora-Lorca, Birgit Assmann, Stine Christ, Thomas Meitinger, Tim M. Strom, Holger Prokisch, Antonio Miranda‐Vizuete, Georg F. Hoffmann, Guy Lenaers, Pascale Bomont, Eva Liebau, Dominique Bonneau, Emmanuelle Génin, Dominique Campion, Jean‐François Dartigues, Jean‐François Deleuze, Jean‐Charles Lambert, Richard Redon, Thomas Ludwig, Benjamin Grenier‐Boley, Sébastien Letort, Pierre Lindenbaum, Vincent Meyer, Olivier Quenez, Christian Dina, Céline Bellenguez, Camille Charbonnier -Le Clézio, Joanna Giemza, Stéphanie Chatel, Claude Férec, Hervé Le Marec, Luc Letenneur, Gaël Nicolas, Karen Rouault, Delphine Bacq, Anne Boland, Doris Lechner

    Έκδοση 2016
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  10. 10
    Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia

    Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia από Michael Zech, Ivana Dzinovic, Matěj Škorvánek, Philip Harrer, Ján Necpál, Robert Kopajtich, Volker Kittke, Erik Tilch, Chen Zhao, Eugenia Tsoma, Ugo Sorrentino, Elisabetta Indelicato, A. Stehr, Alice Saparov, Lucia Abela, Miriam Adamovičová, Alexandra Afenjar, Birgit Assmann, Janette Baloghová, Matthias Baumann, Riccardo Berutti, Zuzana Brežná, Melanie Brugger, Theresa Brunet, Benjamin Cogné, Isabel Colangelo, Erin Conboy, Ertan Mayatepek, Matthias Eckenweiler, Barbara Garavaglia, Arie Geerlof, Elisabeth Graf, Annette Hackenberg, Denisa Harvanová, Bernhard Haslinger, Petra Havránková, Georg F. Hoffmann, Wibke G. Janzarik, Boris Keren, Miriam Kolníková, Konstantinos Kolokotronis, Zuzana Košutzká, Anne Koy, Martin Krenn, Magdalena Krygier, Katarína Kušíková, Oliver Maier, Thomas Meitinger, Christian Mertes, Ivan Milenković, Edoardo Monfrini, André Mourão, Thomas Musacchio, Mathilde Nizon, Miriam Ostrožovičová, Martin Pavlov, Iva Příhodová, Irena Rektorová, Luigi Romito, Barbora Rybanska, Ariane Sadr‐Nabavi, Susanne Schwenger, Ali Shoeibi, Alexandra Sitzberger, Dmitrii Smirnov, Jana Svantnerova, Raushana Tautanova, Sandra P. Toelle, Olga Ulmanová, Francesco Vetrini, Katharina Vill, Matias Wagner, David Weise, Giovanna Zorzi, Alessio Di Fonzo, Konrad Oexle, Steffen Berweck, Volker Mall, Sylvia Boesch, Barbara Schormair, Holger Prokisch, Robert Jech, H. Mann

    Έκδοση 2025
    Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  11. 11
    Monogenic variants in dystonia: an exome-wide sequencing study

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

    Έκδοση 2020
    Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:

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