検索結果 - Ingo Kurth

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  1. 1
    Membrane-shaping disorders: a common pathway in axon degeneration

    Membrane-shaping disorders: a common pathway in axon degeneration 著者: Christian A. Hübner, Ingo Kurth

    出版事項 2014
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  2. 2
    A disease causing ATLASTIN 3 mutation affects multiple endoplasmic reticulum-related pathways

    A disease causing ATLASTIN 3 mutation affects multiple endoplasmic reticulum-related pathways 著者: Laura Behrendt, Ingo Kurth, Christoph Kaether

    出版事項 2019
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    Artigo
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  3. 3
    Hereditary Neuropathies

    Hereditary Neuropathies 著者: Katja Eggermann, Burkhard Gess, Martin Häusler, Joachim Weis, Andreas Hahn, Ingo Kurth

    出版事項 2018
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  4. 4
    The phenotype of congenital insensitivity to pain due to the NaV1.9 variant p.L811P

    The phenotype of congenital insensitivity to pain due to the NaV1.9 variant p.L811P 著者: C. Geoffrey Woods, Mohamed O E Babiker, Iain Horrocks, John Tolmie, Ingo Kurth

    出版事項 2014
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  5. 5
    Mice with a Targeted Disruption of the Cl<sup>−</sup>/HCO<sub>3</sub><sup>−</sup> Exchanger AE3 Display a Reduced Seizure Threshold

    Mice with a Targeted Disruption of the Cl<sup>−</sup>/HCO<sub>3</sub><sup>−</sup> Exchanger AE3 Display a Reduced Seizure Threshold 著者: Moritz Hentschke, Martin Wiemann, Suna Hentschke, Ingo Kurth, Irm Hermans‐Borgmeyer, Thomas Seidenbecher, Thomas J. Jentsch, Andreas Gal, Christian A. Hübner

    出版事項 2005
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  6. 6
    Genetic abnormalities in bicuspid aortic valve root phenotype: preliminary results†

    Genetic abnormalities in bicuspid aortic valve root phenotype: preliminary results† 著者: Evaldas Girdauskas, Lisa Geist, Kushtrim Disha, Iliaz Kazakbaev, T. M. Sequeira Gross, Solveig Schulz, Martin Ungelenk, Thomas Kuntze, Hermann Reichenspurner, Ingo Kurth

    出版事項 2017
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  7. 7
    Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly

    Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly 著者: Eva Klopocki, Christian M. Kähler, Nicola Foulds, Hitesh Shah, Benjamin Joseph, Hermann Vogel, Sabine Lüttgen, R. Bald, Regina Besoke, Karsten R. Held, Stefan Mundlos, Ingo Kurth

    出版事項 2012
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  8. 8
    Renal intercalated cells are rather energized by a proton than a sodium pump

    Renal intercalated cells are rather energized by a proton than a sodium pump 著者: Régine Chambrey, Ingo Kurth, János Peti‐Peterdi, Pascal Houillier, Jeffrey M. Purkerson, F. Leviel, Moritz Hentschke, Anselm A. Zdebik, George J. Schwartz, Christian A. Hübner, Dominique Eladari

    出版事項 2013
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  9. 9
    Diagnosing small fiber neuropathy in clinical practice: a deep phenotyping study

    Diagnosing small fiber neuropathy in clinical practice: a deep phenotyping study 著者: Nadine Egenolf, Caren Meyer zu Altenschildesche, Luisa Kreß, Katja Eggermann, Barbara Namer, Franziska Gross, Alexander Klitsch, Tobias Malzacher, Daniel Kampik, Rayaz A. Malik, Ingo Kurth, Claudia Sommer, Nurcan Üçeyler

    出版事項 2021
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  10. 10
    Mice with targeted <i>Slc4a10</i> gene disruption have small brain ventricles and show reduced neuronal excitability

    Mice with targeted <i>Slc4a10</i> gene disruption have small brain ventricles and show reduced neuronal excitability 著者: Stefan Jacobs, Eva Ruusuvuori, Sampsa T. Sipilä, Aleksi Haapanen, Helle Hasager Damkier, Ingo Kurth, Moritz Hentschke, Michaela Schweizer, York Rudhard, Linda M. Laatikainen, Jaana Tyynelä, Jeppe Prætorius, Juha Voipio, Christian A. Hübner

    出版事項 2007
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  11. 11
    Mutations in the Heme Exporter FLVCR1 Cause Sensory Neurodegeneration with Loss of Pain Perception

    Mutations in the Heme Exporter FLVCR1 Cause Sensory Neurodegeneration with Loss of Pain Perception 著者: Deborah Chiabrando, Marco Castori, Maja Di Rocco, Martin Ungelenk, Sebastian Gießelmann, M. Di Capua, Annalisa Madeo, Paola Grammatico, Sophie Bartsch, Christian A. Hübner, Fiorella Altruda, Lorenzo Silengo, Emanuela Tolosano, Ingo Kurth

    出版事項 2016
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  12. 12
    Homozygous NMNAT2 mutation in sisters with polyneuropathy and erythromelalgia

    Homozygous NMNAT2 mutation in sisters with polyneuropathy and erythromelalgia 著者: Peter Huppke, Eike Wegener, Jonathan Gilley, Carlo Alberto Angeletti, Ingo Kurth, Joost P.H. Drenth, Christine Stadelmann, Alonso Barrantes‐Freer, Wolfgang Brück, Hölger Thiele, Peter Nürnberg, Jutta Gärtner, Giuseppe Orsomando, Michael P. Coleman

    出版事項 2019
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  13. 13
    Cold-aggravated pain in humans caused by a hyperactive NaV1.9 channel mutant

    Cold-aggravated pain in humans caused by a hyperactive NaV1.9 channel mutant 著者: Enrico Leipold, Andrea Hanson‐Kahn, M. Suzanne Frick, Ping Gong, Jonathan A. Bernstein, Martin Voigt, István Katona, R. Oliver Goral, Janine Altmüller, Peter Nürnberg, Joachim Weis, Christian A. Hübner, Stefan H. Heinemann, Ingo Kurth

    出版事項 2015
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  14. 14
    Exome Sequencing Identifies a REEP1 Mutation Involved in Distal Hereditary Motor Neuropathy Type V

    Exome Sequencing Identifies a REEP1 Mutation Involved in Distal Hereditary Motor Neuropathy Type V 著者: Christian Beetz, Thomas R. Pieber, Nicole Hertel, Maria Schabhüttl, Carina Fischer, Slave Trajanoski, Elisabeth Graf, Silke Keiner, Ingo Kurth, Thomas Wieland, Rita-Eva Varga, Vincent Timmerman, Mary M. Reilly, Tim M. Strom, Michaela Auer‐Grumbach

    出版事項 2012
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    Artigo
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  15. 15
    DEGS1-associated aberrant sphingolipid metabolism impairs nervous system function in humans

    DEGS1-associated aberrant sphingolipid metabolism impairs nervous system function in humans 著者: Gergely Karsai, Florian Kraft, Natja Haag, GC Korenke, Benjamin Hänisch, Alaa Othman, Saranya Suriyanarayanan, R. Steiner, Cordula Knopp, Michael Mull, Markus Bergmann, J. M. Schröder, Joachim Weis, Miriam Elbracht, Matthias Begemann, Thorsten Hornemann, Ingo Kurth

    出版事項 2019
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  16. 16
    Mutations in CHD7, Encoding a Chromatin-Remodeling Protein, Cause Idiopathic Hypogonadotropic Hypogonadism and Kallmann Syndrome

    Mutations in CHD7, Encoding a Chromatin-Remodeling Protein, Cause Idiopathic Hypogonadotropic Hypogonadism and Kallmann Syndrome 著者: Hyung‐Goo Kim, Ingo Kurth, Fei Lan, Irene Meliciani, Wolfgang Wenzel, Soo Hyun Eom, Gil Bu Kang, Georg Rosenberger, Mustafa Tekin, Metin Özata, David Bick, Richard J. Sherins, Steven L. Walker, Yang Shi, James F. Gusella, Lawrence C. Layman

    出版事項 2008
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  17. 17
    Pain relief in a neuropathy patient by lacosamide: Proof of principle of clinical translation from patient-specific iPS cell-derived nociceptors

    Pain relief in a neuropathy patient by lacosamide: Proof of principle of clinical translation from patient-specific iPS cell-derived nociceptors 著者: Barbara Namer, Diana Schmidt, Esther Eberhardt, Michele Maroni, Eva Dorfmeister, Inge Petter Kleggetveit, Luisa Kaluza, Jannis Meents, Aaron C. Gerlach, Zhixin Lin, Andreas Winterpacht, Elena Dragicevic, Zacharias Kohl, J. Schüttler, Ingo Kurth, Torhild Warncke, Ellen Jørum, Beate Winner, Angelika Lampert

    出版事項 2018
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  18. 18
    Functional connectivity signatures of NMDAR dysfunction in schizophrenia—integrating findings from imaging genetics and pharmaco-fMRI

    Functional connectivity signatures of NMDAR dysfunction in schizophrenia—integrating findings from imaging genetics and pharmaco-fMRI 著者: Arnim Johannes Gaebler, Nilüfer Fakour, Felix Stöhr, Jana Zweerings, Arezoo Taebi, Mariia Suslova, Juergen Dukart, Joerg F. Hipp, Bhim M. Adhikari, Peter Kochunov, Suresh Muthukumaraswamy, Anna Forsyth, Thomas Eggermann, Florian Kraft, Ingo Kurth, Michael Paulzen, Gerhard Gründer, Frank Schneider, Klaus Mathiak

    出版事項 2023
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    Artigo
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  19. 19
    <i>CLCN7</i> and <i>TCIRG1</i> Mutations Differentially Affect Bone Matrix Mineralization in Osteopetrotic Individuals

    <i>CLCN7</i> and <i>TCIRG1</i> Mutations Differentially Affect Bone Matrix Mineralization in Osteopetrotic Individuals 著者: Florian Barvencik, Ingo Kurth, Till Koehne, Tobias Stauber, Jozef Zustin, Konstantinos Tsiakas, Carmen Ludwig, Frank Timo Beil, Jan M. Pestka, Michael Hahn, René Santer, Chayarop Supanchart, Uwe Kornak, Andrea Del Fattore, Thomas J. Jentsch, Anna Teti, Ansgar Schulz, Thorsten Schinke, Michael Amling

    出版事項 2013
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    Artigo
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  20. 20
    In Vivo Evidence for Lysosome Depletion and Impaired Autophagic Clearance in Hereditary Spastic Paraplegia Type SPG11

    In Vivo Evidence for Lysosome Depletion and Impaired Autophagic Clearance in Hereditary Spastic Paraplegia Type SPG11 著者: Rita-Eva Varga, Mukhran Khundadze, Markus Daμμe, Sándor Nietzsche, Birgit Hoffmann, Tobias Stauber, Nicole Koch, J. Christopher Hennings, Patricia Franzka, Antje K. Huebner, Michael M. Kessels, Christoph Biskup, Thomas J. Jentsch, Britta Qualmann, Thomas Braulke, Ingo Kurth, Christian Beetz, Christian A. Hübner

    出版事項 2015
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