檢索結果 - Christine Makowski

  • Showing 1 - 11 results of 11
Refine Results
  1. 1
    Spectrum of combined respiratory chain defects

    Spectrum of combined respiratory chain defects 由 Johannes A. Mayr, Tobias B. Haack, Peter Freisinger, Daniela Karall, Christine Makowski, Johannes Koch, René G. Feichtinger, Franz Zimmermann, Boris Rolinski, Uwe Ahting, Thomas Meitinger, Holger Prokisch, Wolfgang Sperl

    出版 2015
    獲取全文
    Revisão
    加到收藏夾
    Saved in:
  2. 2
    Impaired riboflavin transport due to missense mutations in <i>SLC52A2</i> causes Brown‐Vialetto‐Van Laere syndrome

    Impaired riboflavin transport due to missense mutations in <i>SLC52A2</i> causes Brown‐Vialetto‐Van Laere syndrome 由 Tobias B. Haack, Christine Makowski, Yoshiaki Yao, Elisabeth Graf, Maja Hempel, Thomas Wieland, Ulrike Tauer, Uwe Ahting, Johannes A. Mayr, Peter Freisinger, Hiroki‎ Yoshimatsu, Ken‐ichi Inui, Tim M. Strom, Thomas Meitinger, Atsushi Yonezawa, Holger Prokisch

    出版 2012
    獲取全文
    Artigo
    加到收藏夾
    Saved in:
  3. 3
    A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy

    A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy 由 Cas Simons, David A. Dyment, Stephen J. Bent, Joanna Crawford, Marc D’Hooghe, Alfried Kohlschütter, Sunita Venkateswaran, Guy Helman, Bwee Tien Poll‐The, Christine Makowski, Yoko Ito, Kristin D. Kernohan, Taila Hartley, Quinten Waisfisz, Ryan J. Taft, Marjo S. van der Knaap, Nicole I. Wolf

    出版 2017
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  4. 4
    Combined Respiratory Chain Deficiency and <i>UQCC2</i> Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies

    Combined Respiratory Chain Deficiency and <i>UQCC2</i> Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies 由 René G. Feichtinger, Michaela Brunner‐Krainz, Bader Alhaddad, Saskia B. Wortmann, Réka Kovács-Nagy, Tatjana Stojaković, Wolfgang Erwa, Bernhard Resch, Werner Windischhofer, Sarah Verheyen, Sabine Uhrig, Christian Windpassinger, Felix Sternberg, Christine Makowski, Tim M. Strom, Thomas Meitinger, Holger Prokisch, Wolfgang Sperl, Tobias B. Haack, Johannes A. Mayr

    出版 2017
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  5. 5
    Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency

    Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency 由 Uwe Ahting, Johannes A. Mayr, Arnaud Vanlander, Steven Hardy, Saikat Santra, Christine Makowski, Charlotte L. Alston, Franz Zimmermann, Lucia Abela, Barbara Plecko, Marianne Rohrbach, Stephanie Spranger, Sara Seneca, Boris Rolinski, Angela Hagendorff, Maja Hempel, Wolfgang Sperl, Thomas Meitinger, Joél Smet, Robert W. Taylor, Rudy Van Coster, Peter Freisinger, Holger Prokisch, Tobias B. Haack

    出版 2015
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  6. 6
    Effectiveness of antiepileptic therapy in patients with PCDH19 mutations

    Effectiveness of antiepileptic therapy in patients with PCDH19 mutations 由 J Lotte, Thomas Bast, Peter Borusiak, Antonietta Coppola, J. Helen Cross, Petia Dimova, András Fogarasi, Irene Graneß, Renzo Guerrini, Helle Hjalgrim, Reinhard Keimer, Christian Korff, Gerhard Kurlemann, Steffen Leiz, M Linder-Lucht, Tobias Loddenkemper, Christine Makowski, Christian Mühe, Joost Nicolai, Marina Nikanorova, Simona Pellacani, Sunny Philip, Susanne Ruf, Ivan Sánchez Fernández, Kurt Schlachter, Pasquale Striano, Biayna Sukhudyan, Deyana Valcheva, R. Jeroen Vermeulen, Tanja Weisbrod, Bernd Wilken, Philipp Wolf, Gerhard Kluger

    出版 2016
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  7. 7
    <i>De novo</i> variants in neurodevelopmental disorders—experiences from a tertiary care center

    <i>De novo</i> variants in neurodevelopmental disorders—experiences from a tertiary care center 由 Theresa Brunet, Robert Jech, Melanie Brugger, Reka Kovacs, Bader Alhaddad, Gloria Leszinski, Korbinian M. Riedhammer, Dominik S. Westphal, Isabella Mahle, Katharina Mayerhanser, Matěj Škorvánek, Sandrina Weber, Elisabeth Graf, Riccardo Berutti, Ján Necpál, Petra Havránková, Petra Pavelekova, Maja Hempel, Urania Kotzaeridou, Georg F. Hoffmann, Steffen Leiz, Christine Makowski, Timo Roser, A. Sebastian Schroeder, Robert Steinfeld, Gertrud Strobl‐Wildemann, Julia Hoefele, Ingo Borggraefe, Felix Distelmaier, Tim M. Strom, Juliane Winkelmann, Thomas Meitinger, Michael Zech, Matias Wagner

    出版 2021
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  8. 8
    Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy

    Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy 由 Katharina Danhauser, Bader Alhaddad, Christine Makowski, Dorota Piekutowska‐Abramczuk, Steffen Syrbe, Natalia Gomez‐Ospina, Melanie A. Manning, Anna Kostera‐Pruszczyk, Claudia Krahn-Peper, Riccardo Berutti, Réka Kovács-Nagy, Mirjana Gušić, Elisabeth Graf, Lucia Laugwitz, Michaela Röblitz, Andreas Wroblewski, Hans Hartmann, Anibh M. Das, Eva Bültmann, Fang Fang, Manting Xu, Ulrich A. Schatz, Daniela Karall, Herta Zellner, Edda Haberlandt, René G. Feichtinger, Johannes A. Mayr, Thomas Meitinger, Holger Prokisch, Tim M. Strom, Rafał Płoski, Georg F. Hoffmann, Maciej Pronicki, Penelope E. Bonnen, Susanne Morlot, Tobias B. Haack

    出版 2018
    獲取全文
    Artigo
    加到收藏夾
    Saved in:
  9. 9
    Neurologic phenotypes associated with <i>COL4A1</i> / <i>2</i> mutations

    Neurologic phenotypes associated with <i>COL4A1</i> / <i>2</i> mutations 由 Sara Zagaglia, C. Selch, Jelena Radić Nišević, Davide Mei, Zuzanna Michalak, Laura Hernandez‐Hernandez, S. Krithika, Aikaterini Vezyroglou, Sophia Varadkar, Alexander Pepler, Saskia Biskup, Miguel Leão, Jutta Gärtner, Andreas Merkenschlager, Michaela Jaksch, Rikke S. Møller, Elena Gardella, Britta Schlott Kristiansen, Lars Kjærsgaard Hansen, Maria Stella Vari, Katherine L. Helbig, Sonal Desai, Constance Smith‐Hicks, Naomi Hino‐Fukuyo, Tiina Talvik, Rael Laugesaar, Pilvi Ilves, Katrin Õunap, Ingrid Körber, Till Hartlieb, Manfred Kudernatsch, Peter Winkler, Mareike Schimmel, A Hasse, Markus Knuf, Jan Heinemeyer, Christine Makowski, Sondhya Ghedia, Gopinath M. Subramanian, Pasquale Striano, Rhys H. Thomas, Caroline Micallef, Maria Thom, David J. Werring, Gerhard Kluger, J. Helen Cross, Renzo Guerrini, Simona Balestrini, Sanjay M. Sisodiya

    出版 2018
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  10. 10
    Clinical implementation of RNA sequencing for Mendelian disease diagnostics

    Clinical implementation of RNA sequencing for Mendelian disease diagnostics 由 Vicente A. Yépez, Mirjana Gušić, Robert Kopajtich, Christian Mertes, Nicholas H. Smith, Charlotte L. Alston, Rui Ban, Skadi Beblo, Riccardo Berutti, Holger Blessing, Elżbieta Ciara, Felix Distelmaier, Peter Freisinger, Johannes Häberle, Susan J. Hayflick, Maja Hempel, Yulia S. Itkis, Yoshihito Kishita, Thomas Klopstock, Tatiana Krylova, Costanza Lamperti, Dominic Lenz, Christine Makowski, Signe Mosegaard, Michaela Müller, Gerard Muñoz-Pujol, Agnieszka Nadel, Akira Ohtake, Yasushi Okazaki, Elena Procopio, Thomas Schwarzmayr, Joél Smet, Christian Staufner, Sarah L. Stenton, Tim M. Strom, Caterina Terrile, Frederic Tort, Rudy Van Coster, Arnaud Vanlander, Matias Wagner, Manting Xu, Fang Fang, Daniele Ghezzi, Johannes A. Mayr, Dorota Piekutowska‐Abramczuk, Antònia Ribes, Agnès Rötig, Robert W. Taylor, Saskia B. Wortmann, Kei Murayama, Thomas Meitinger, Julien Gagneur, Holger Prokisch

    出版 2022
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  11. 11
    Monogenic variants in dystonia: an exome-wide sequencing study

    Monogenic variants in dystonia: an exome-wide sequencing study 由 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

    出版 2020
    獲取全文
    Artigo
    加到收藏夾
    Saved in:

檢索工具: