Výsledky vyhledávání - Ingo Kurth
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Hereditary Neuropathies Autor Katja Eggermann, Burkhard Gess, Martin Häusler, Joachim Weis, Andreas Hahn, Ingo Kurth
Vydáno 2018Revisão -
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Mice with a Targeted Disruption of the Cl<sup>−</sup>/HCO<sub>3</sub><sup>−</sup> Exchanger AE3 Display a Reduced Seizure Threshold Autor Moritz Hentschke, Martin Wiemann, Suna Hentschke, Ingo Kurth, Irm Hermans‐Borgmeyer, Thomas Seidenbecher, Thomas J. Jentsch, Andreas Gal, Christian A. Hübner
Vydáno 2005Artigo -
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Genetic abnormalities in bicuspid aortic valve root phenotype: preliminary results† Autor Evaldas Girdauskas, Lisa Geist, Kushtrim Disha, Iliaz Kazakbaev, T. M. Sequeira Gross, Solveig Schulz, Martin Ungelenk, Thomas Kuntze, Hermann Reichenspurner, Ingo Kurth
Vydáno 2017Artigo -
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Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly Autor 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
Vydáno 2012Artigo -
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Renal intercalated cells are rather energized by a proton than a sodium pump Autor 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
Vydáno 2013Artigo -
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Diagnosing small fiber neuropathy in clinical practice: a deep phenotyping study Autor 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
Vydáno 2021Artigo -
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Mice with targeted <i>Slc4a10</i> gene disruption have small brain ventricles and show reduced neuronal excitability Autor 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
Vydáno 2007Artigo -
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Mutations in the Heme Exporter FLVCR1 Cause Sensory Neurodegeneration with Loss of Pain Perception Autor 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
Vydáno 2016Artigo -
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Homozygous NMNAT2 mutation in sisters with polyneuropathy and erythromelalgia Autor 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
Vydáno 2019Artigo -
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Cold-aggravated pain in humans caused by a hyperactive NaV1.9 channel mutant Autor 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
Vydáno 2015Artigo -
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Exome Sequencing Identifies a REEP1 Mutation Involved in Distal Hereditary Motor Neuropathy Type V Autor 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
Vydáno 2012Artigo -
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DEGS1-associated aberrant sphingolipid metabolism impairs nervous system function in humans Autor 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
Vydáno 2019Artigo -
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Mutations in CHD7, Encoding a Chromatin-Remodeling Protein, Cause Idiopathic Hypogonadotropic Hypogonadism and Kallmann Syndrome Autor 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
Vydáno 2008Artigo -
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Pain relief in a neuropathy patient by lacosamide: Proof of principle of clinical translation from patient-specific iPS cell-derived nociceptors Autor 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
Vydáno 2018Artigo -
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Functional connectivity signatures of NMDAR dysfunction in schizophrenia—integrating findings from imaging genetics and pharmaco-fMRI Autor 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
Vydáno 2023Artigo -
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<i>CLCN7</i> and <i>TCIRG1</i> Mutations Differentially Affect Bone Matrix Mineralization in Osteopetrotic Individuals Autor 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
Vydáno 2013Artigo -
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In Vivo Evidence for Lysosome Depletion and Impaired Autophagic Clearance in Hereditary Spastic Paraplegia Type SPG11 Autor 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
Vydáno 2015Artigo
Vyhledávací nástroje:
Související témata
Biology
Genetics
Gene
Medicine
Neuroscience
Internal medicine
Cell biology
Phenotype
Endocrinology
Pathology
Mutation
Biochemistry
Disease
Chemistry
Receptor
Axon
Hereditary spastic paraplegia
Anatomy
Missense mutation
Organic chemistry
Psychology
Sensory system
Sodium
Cell
Coronavirus disease 2019 (COVID-19)
Endoplasmic reticulum
Enzyme
Genetic testing
Infectious disease (medical specialty)
Intracellular